MODY2
MCID: MTR019
MIFTS: 55

Maturity-Onset Diabetes of the Young, Type 2 (MODY2)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 2

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 2:

Name: Maturity-Onset Diabetes of the Young, Type 2 56 52 29 6 37
Mody2 56 12 52 73
Mody Glucokinase-Related 12 52 73
Mody Type 2 12 52 73
Maturity-Onset Diabetes of the Young Type 2 12 15
Diabetes of the Young, Maturity-Onset, Type 2 39
Diabetes Mellitus Autosomal Dominant Type Ii 71
Type 2 Maturity-Onset Diabetes of the Young 52
Maturity-Onset Diabetes of the Young 2 73
Diabetes Mellitus Mody Type 2 52
Mody, Glucokinase-Related 56
Mody, Type Ii 56
Mody, Type 2 56
Mody-2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
maturity-onset diabetes of the young, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111100
OMIM 56 125851
MeSH 43 D003924
SNOMED-CT via HPO 68 263681008 609561005
UMLS 71 C0342277

Summaries for Maturity-Onset Diabetes of the Young, Type 2

OMIM : 56 MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France. (125851)

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 2, also known as mody2, is related to lipid metabolism disorder and hypoglycemia. An important gene associated with Maturity-Onset Diabetes of the Young, Type 2 is GCK (Glucokinase), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Metformin and Sitagliptin Phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and pancreas, and related phenotypes are maturity-onset diabetes of the young and Decreased free cholesterol

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the GCK gene on chromosome 7p13.

UniProtKB/Swiss-Prot : 73 Maturity-onset diabetes of the young 2: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

Related Diseases for Maturity-Onset Diabetes of the Young, Type 2

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 lipid metabolism disorder 29.5 TCF7L2 INS HNF4A
2 hypoglycemia 29.5 SLC2A2 KCNJ11 INS GCK ABCC8
3 hyperinsulinism 29.3 KCNJ11 INS HNF4A HK1 GCK ABCC8
4 gestational diabetes 29.0 TCF7L2 KCNJ11 INS HNF4A HNF1A GCK
5 glucose intolerance 28.8 TCF7L2 KCNJ11 INS HNF1A GCK ABCC8
6 monogenic diabetes 28.2 WFS1 PDX1 KCNJ11 INS HNF4A HNF1B
7 hyperglycemia 28.1 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
8 diabetes mellitus, permanent neonatal 26.7 WFS1 SLC2A2 PDX1 PAX4 NEUROD1 KLF11
9 maturity-onset diabetes of the young, type 1 26.7 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
10 maturity-onset diabetes of the young, type 3 26.6 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
11 neonatal diabetes mellitus 25.4 WFS1 TCF7L2 SLC2A2 PDX1 PAX4 NEUROD1
12 diabetes mellitus, noninsulin-dependent 25.4 WFS1 TCF7L2 SLC2A2 PDX1 PAX4 NEUROD1
13 maturity-onset diabetes of the young 25.0 WFS1 TCF7L2 SLC2A2 PDX1 PAX4 NEUROD1
14 diabetes mellitus 24.4 WFS1 TCF7L2 SLC2A2 PDX1 PAX4 NEUROD1
15 hyperinsulinemic hypoglycemia, familial, 3 11.5
16 type 1 diabetes mellitus 11 10.3 PDX1 NEUROD1
17 diabetes mellitus, insulin-dependent, 20 10.2 INS HNF1A
18 donohue syndrome 10.1 KCNJ11 INS GCK
19 hyperinsulinemic hypoglycemia, familial, 6 10.1 INS GCK ABCC8
20 cantu syndrome 10.1 KCNJ11 ABCC8
21 autoimmune disease 10.1
22 hyperinsulinemic hypoglycemia, familial, 5 10.1
23 hyperinsulinemic hypoglycemia, familial, 4 10.1
24 helix syndrome 10.1
25 celiac disease 1 10.1
26 hypothyroidism 10.1
27 thyroid gland disease 10.1
28 munchausen by proxy 10.1 KCNJ11 GCK ABCC8
29 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 GCK ABCC8
30 acanthosis nigricans 10.0
31 asphyxia neonatorum 10.0 KCNJ11 INS ABCC8
32 hyperlipoproteinemia, type v 10.0 INS HK1
33 maturity-onset diabetes of the young, type 14 10.0 PDX1 KLF11 HNF1A GCK
34 familial periodic paralysis 10.0 KCNJ11 INS
35 autosomal genetic disease 10.0 INS HNF4A GCK
36 greig cephalopolysyndactyly syndrome 10.0
37 aminoaciduria 9.9 HNF4A HNF1A
38 renal glucosuria 9.9 SLC2A2 INS HNF1B
39 fanconi-bickel syndrome 9.9 SLC2A2 INS ABCC8
40 hyperinsulinemic hypoglycemia, familial, 2 9.9 KCNJ11 INS HNF4A ABCC8
41 intracranial arteriosclerosis 9.9 TCF7L2 INS
42 cardiomyopathy, dilated, 1o 9.8 SLC2A2 KCNJ11 ABCC8
43 diabetes mellitus, ketosis-prone 9.7 PAX4 KCNJ11 INS ABCC8
44 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.6 KCNJ11 INS HNF4A HNF1B HNF1A GCK
45 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.6 WFS1 KCNJ11 INS ABCC8
46 pancreatic agenesis 9.6 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
47 carbohydrate metabolic disorder 9.5 SLC2A2 KCNJ11 INS GCK ABCC8
48 prediabetes syndrome 9.5 TCF7L2 INS HK1
49 acute insulin response 9.5 TCF7L2 KCNJ11 INS ABCC8
50 pancreatic cystadenoma 9.4 SLC2A2 PDX1 NEUROD1 INS GCK ABCC8

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 2:



Diseases related to Maturity-Onset Diabetes of the Young, Type 2

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 2

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 2:

31
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM:

56
Endo:
diabetes mellitus

Lab:
glucokinase gene defect

Misc:
early onset, mild and relatively uncomplicated course

Clinical features from OMIM:

125851

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 GCKR HNF1A HNF4A

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.22 ABCC8 BLK GCK HNF1A HNF1B INS
2 homeostasis/metabolism MP:0005376 10.22 ABCC8 GCK GCKR HK1 HNF1A HNF1B
3 growth/size/body region MP:0005378 10.18 GCK HK1 HNF1A HNF1B HNF4A INS
4 mortality/aging MP:0010768 9.93 GCK HNF1A HNF1B HNF4A INS KCNJ11
5 liver/biliary system MP:0005370 9.91 GCK HK1 HNF1A HNF1B HNF4A INS
6 muscle MP:0005369 9.5 HNF1A HNF1B INS KCNJ11 PDX1 SLC2A2
7 renal/urinary system MP:0005367 9.23 GCK HK1 HNF1A HNF1B INS NEUROD1

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 2

Drugs for Maturity-Onset Diabetes of the Young, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2 Sitagliptin Phosphate Phase 4
3 Dipeptidyl-Peptidase IV Inhibitors Phase 4
4
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
5
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
6 Hypoglycemic Agents Phase 2, Phase 3
7 Hormone Antagonists Phase 2, Phase 3
8 Hormones Phase 2, Phase 3
9 Glucagon-Like Peptide 1 Phase 2, Phase 3
10 Immunologic Factors Phase 2, Phase 3
11 Anti-Arrhythmia Agents Phase 2, Phase 3
12 Incretins Phase 2, Phase 3
13 Immunosuppressive Agents Phase 2, Phase 3
14
tannic acid Approved Phase 1 1401-55-4
15
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
16
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
17
Glucagon Approved Phase 1 16941-32-5
18 Anesthetics, Local Phase 1
19 Gastrointestinal Agents Phase 1
20 Anesthetics Phase 1
21 Central Nervous System Depressants Phase 1
22
Pancrelipase Approved, Investigational 53608-75-6
23
carbamide peroxide Approved 124-43-6
24
Zinc Approved, Investigational 7440-66-6 32051
25
Insulin glargine Approved 160337-95-1
26
Insulin lispro Approved 133107-64-9
27
Insulin aspart Approved 116094-23-6 16132418
28
Insulin detemir Approved 169148-63-4 5311023
29
gastric inhibitory polypeptide Investigational 100040-31-1
30 pancreatin
31 HIV Protease Inhibitors
32
protease inhibitors
33 Antibodies
34 Immunoglobulins
35 insulin
36 Insulin, Globin Zinc
37 Isophane Insulin, Human
38 Isophane insulin, beef
39 Insulin, Isophane

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic and Genetic Correlates of Diabetes (Non-Type 1) in Young Non-Obese Asian Indians in North India and A Study to Evaluate the Efficacy of Sitagliptin (DPP-4 Inhibitor) in a Sub-group of the Study Population Completed NCT00964184 Phase 4 Metformin
2 Phase 2 Study: A Double-blind, Randomised, Clinical Cross-over Trial to Investigate the Treatment Potential of Liraglutide Compared to Glimepiride in MODY Patients Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
3 A Novel Cross-sectional Analysis of Insulin Sensitivity Among Adolescents and Young Adults With Type 1 Diabetes, MODY2, and Normal Controls: the Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance Completed NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
4 The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family Unknown status NCT01960231
5 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Completed NCT03081676 Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
6 Postprandial Secretion of of Incretin Hormones and Incretin Effect in Patients With Maturity-onset Diabetes of the Young (MODY) Completed NCT01342939
7 Constitution of a Cohort of Families With Monogenic Diabetes to Identify Novel Causes of Non Auto-immune Diabetes Mellitus in Children and Young Adults Completed NCT02634229
8 Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2 Recruiting NCT02556840

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 2

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 2

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 2:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 2 29 GCK

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 2

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 2:

40
Testes, Liver, Pancreas, Thyroid, Pancreatic Islet

Publications for Maturity-Onset Diabetes of the Young, Type 2

Articles related to Maturity-Onset Diabetes of the Young, Type 2:

(show top 50) (show all 204)
# Title Authors PMID Year
1
Insight into the biochemical characteristics of a novel glucokinase gene mutation. 56 6
21104275 2011
2
Six novel mutations in the GCK gene in MODY patients. 56 6
17204055 2007
3
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 56 6
16965331 2006
4
Mutations in the glucokinase gene of the fetus result in reduced birth weight. 56 6
9662401 1998
5
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. 56 6
1570017 1992
6
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. 56 6
1545870 1992
7
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 61 6
20337973 2010
8
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 61 6
18399931 2008
9
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. 61 6
18248649 2008
10
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations. 61 6
18271687 2008
11
Glucokinase mutations in young children with hyperglycemia. 61 6
16444761 2006
12
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 61 6
16602010 2006
13
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 61 6
16731834 2006
14
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). 61 6
15305805 2004
15
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. 61 56
15102714 2004
16
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. 61 6
12955723 2003
17
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. 61 6
12627330 2003
18
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 61 6
12442280 2002
19
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 61 56
12050210 2002
20
Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus. 61 6
11772903 2002
21
Maturity-Onset Diabetes of the Young Overview 6
29792621 2018
22
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 6
19564454 2009
23
GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes. 6
16963153 2007
24
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. 6
14517946 2003
25
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). 6
14517956 2003
26
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 56
11575290 2001
27
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. 6
11508276 2001
28
Neonatal diabetes mellitus due to complete glucokinase deficiency. 6
11372010 2001
29
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. 6
10753050 2000
30
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online. 6
10694920 1998
31
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. 6
9049484 1997
32
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young. 6
8376578 1993
33
Linkage analysis and molecular scanning of glucokinase gene in NIDDM families. 6
8349034 1993
34
Identification of glucokinase mutations in subjects with gestational diabetes mellitus. 6
8495817 1993
35
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. 6
8433729 1993
36
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. 56
8446612 1993
37
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. 6
1303265 1992
38
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. 6
1502186 1992
39
Linkage of type 2 diabetes to the glucokinase gene. 6
1349989 1992
40
Strategies for the collection of sibling-pair data for genetic studies in type 2 (non-insulin-dependent) diabetes mellitus. 56
1955104 1991
41
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes. 61
31638168 2019
42
Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young. 61
30897270 2019
43
Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2). 61
31092478 2019
44
Using Clinical Indices to Distinguish MODY2 (GCK Mutation) and MODY3 (HNF1A Mutation) from Type 1 Diabetes in a Young Chinese Population. 61
31214998 2019
45
Birthweight correlates with later metabolic abnormalities in Chinese patients with maturity-onset diabetes of the young type 2. 61
31028668 2019
46
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. 61
30592380 2019
47
Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young Type 2. 61
31484194 2019
48
Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients. 61
30257192 2018
49
Gut Microbiota Differs in Composition and Functionality Between Children With Type 1 Diabetes and MODY2 and Healthy Control Subjects: A Case-Control Study. 61
30224347 2018
50
Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase. 61
29704611 2018

Variations for Maturity-Onset Diabetes of the Young, Type 2

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GCK NM_000162.5(GCK):c.317_333del (p.Gln106fs)deletion Pathogenic 211071 rs797045595 7:44191900-44191916 7:44152301-44152317
2 GCK NM_000162.5(GCK):c.1132G>A (p.Ala378Thr)SNV Pathogenic 16145 rs104894016 7:44185217-44185217 7:44145618-44145618
3 GCK NM_000162.5(GCK):c.629T>A (p.Met210Lys)SNV Pathogenic 16141 rs80356654 7:44189409-44189409 7:44149810-44149810
4 GCK NM_000162.5(GCK):c.793G>T (p.Glu265Ter)SNV Pathogenic 16139 rs104894011 7:44187319-44187319 7:44147720-44147720
5 GCK NM_000162.5(GCK):c.391T>C (p.Ser131Pro)SNV Pathogenic 16138 rs104894010 7:44190647-44190647 7:44151048-44151048
6 GCK GCK, IVS4DS, 15-BP DELdeletion Pathogenic 16137
7 GCK NM_000162.5(GCK):c.895G>C (p.Gly299Arg)SNV Pathogenic 16136 rs104894009 7:44186186-44186186 7:44146587-44146587
8 GCK NM_000162.5(GCK):c.781G>A (p.Gly261Arg)SNV Pathogenic 16135 rs104894008 7:44187331-44187331 7:44147732-44147732
9 GCK NM_000162.5(GCK):c.683C>T (p.Thr228Met)SNV Pathogenic 16134 rs80356655 7:44187429-44187429 7:44147830-44147830
10 GCK NM_000162.5(GCK):c.835G>T (p.Glu279Ter)SNV Pathogenic 16132 rs104894005 7:44187277-44187277 7:44147678-44147678
11 GCK NM_000162.5(GCK):c.214G>A (p.Gly72Arg)SNV Pathogenic 36209 rs193922289 7:44192019-44192019 7:44152420-44152420
12 GCK NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)SNV Pathogenic 36238 rs144723656 7:44189393-44189393 7:44149794-44149794
13 GCK NM_000162.5(GCK):c.871A>T (p.Lys291Ter)SNV Pathogenic 36263 rs193922335 7:44186210-44186210 7:44146611-44146611
14 GCK NM_000162.5(GCK):c.944T>A (p.Leu315His)SNV Pathogenic 36266 rs193922338 7:44186137-44186137 7:44146538-44146538
15 GCK NM_000162.5(GCK):c.1015G>A (p.Glu339Lys)SNV Pathogenic 39759 rs397514580 7:44186066-44186066 7:44146467-44146467
16 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met)SNV Pathogenic 129144 rs587780345 7:44189603-44189603 7:44150004-44150004
17 GCK NM_000162.5(GCK):c.112C>T (p.Gln38Ter)SNV Pathogenic 236192 rs878853246 7:44192996-44192996 7:44153397-44153397
18 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys)SNV Pathogenic 265175 rs769268803 7:44187346-44187346 7:44147747-44147747
19 GCK NM_000162.5(GCK):c.1253+2T>ASNV Pathogenic 393449 rs1057524902 7:44185094-44185094 7:44145495-44145495
20 GCK NM_000162.5(GCK):c.680-1G>ASNV Pathogenic 393452 rs1057524905 7:44187433-44187433 7:44147834-44147834
21 GCK NM_000162.5(GCK):c.184G>A (p.Val62Met)SNV Pathogenic 419624 rs1064793998 7:44192924-44192924 7:44153325-44153325
22 GCK NM_000162.5(GCK):c.571C>T (p.Arg191Trp)SNV Pathogenic 426122 rs1085307455 7:44189576-44189576 7:44149977-44149977
23 GCK NM_000162.5(GCK):c.941T>C (p.Leu314Pro)SNV Pathogenic 435305 rs1554334886 7:44186140-44186140 7:44146541-44146541
24 GCK NM_000162.5(GCK):c.775G>A (p.Ala259Thr)SNV Pathogenic 435302 rs1375656631 7:44187337-44187337 7:44147738-44147738
25 GCK NM_000162.5(GCK):c.678_679+2deldeletion Pathogenic 435308 rs1554335391 7:44189357-44189360 7:44149758-44149761
26 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser)SNV Pathogenic 435306 rs1360415315 7:44189371-44189371 7:44149772-44149772
27 GCK NM_000162.5(GCK):c.295del (p.Trp99fs)deletion Pathogenic 435304 rs1554335752 7:44191938-44191938 7:44152339-44152339
28 GCK NM_000162.5(GCK):c.45+1G>TSNV Pathogenic 619964 rs781260712 7:44228507-44228507 7:44188908-44188908
29 GCK NM_000162.5(GCK):c.148C>T (p.His50Tyr)SNV Pathogenic 631495 rs1562719705 7:44192960-44192960 7:44153361-44153361
30 GCK NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)duplication Pathogenic 802307 7:44185314-44185315 7:44145715-44145716
31 GCK NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)SNV Pathogenic 617645 rs556581174 7:44185236-44185236 7:44145637-44145637
32 GCK NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)SNV Pathogenic 802309 7:44192925-44192925 7:44153326-44153326
33 GCK NM_000162.5(GCK):c.106C>T (p.Arg36Trp)SNV Pathogenic/Likely pathogenic 431973 rs762263694 7:44193002-44193002 7:44153403-44153403
34 GCK NM_000162.5(GCK):c.661G>A (p.Glu221Lys)SNV Pathogenic/Likely pathogenic 36241 rs193922317 7:44189377-44189377 7:44149778-44149778
35 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met)SNV Pathogenic/Likely pathogenic 36243 rs148311934 7:44189362-44189362 7:44149763-44149763
36 GCK NM_000162.5(GCK):c.76C>T (p.Gln26Ter)SNV Pathogenic/Likely pathogenic 36256 rs193922329 7:44193032-44193032 7:44153433-44153433
37 GCK NM_000162.5(GCK):c.449T>C (p.Phe150Ser)SNV Pathogenic/Likely pathogenic 36218 rs193922297 7:44190589-44190589 7:44150990-44150990
38 GCK NM_000162.5(GCK):c.175C>T (p.Pro59Ser)SNV Pathogenic/Likely pathogenic 36205 rs193922287 7:44192933-44192933 7:44153334-44153334
39 GCK NM_000162.5(GCK):c.1003del (p.Val335fs)deletion Pathogenic/Likely pathogenic 36166 rs193922254 7:44186078-44186078 7:44146479-44146479
40 GCK NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)SNV Likely pathogenic 36185 rs193922269 7:44185174-44185174 7:44145575-44145575
41 GCK NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)SNV Likely pathogenic 36187 rs193922271 7:44185142-44185142 7:44145543-44145543
42 GCK NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)SNV Likely pathogenic 36188 rs193922272 7:44185109-44185109 7:44145510-44145510
43 GCK NM_000162.5(GCK):c.1332del (p.Ser445fs)deletion Likely pathogenic 36197 rs193922280 7:44184801-44184801 7:44145202-44145202
44 GCK NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)SNV Likely pathogenic 36199 rs193922282 7:44184788-44184788 7:44145189-44145189
45 GCK NM_000162.5(GCK):c.1020-1G>CSNV Likely pathogenic 36170 rs193922258 7:44185330-44185330 7:44145731-44145731
46 GCK NM_000162.5(GCK):c.103A>T (p.Arg35Ter)SNV Likely pathogenic 36171 rs193922259 7:44193005-44193005 7:44153406-44153406
47 GCK NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)SNV Likely pathogenic 36172 rs193922260 7:44185307-44185307 7:44145708-44145708
48 GCK NM_000162.5(GCK):c.107G>C (p.Arg36Pro)SNV Likely pathogenic 36173 rs193922261 7:44193001-44193001 7:44153402-44153402
49 GCK NM_000162.5(GCK):c.1114G>T (p.Glu372Ter)SNV Likely pathogenic 36174 rs193922262 7:44185235-44185235 7:44145636-44145636
50 GCK NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)SNV Likely pathogenic 36175 rs193922263 7:44185225-44185225 7:44145626-44145626

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

73 (show top 50) (show all 85)
# Symbol AA change Variation ID SNP ID
1 GCK p.Glu70Lys VAR_003693
2 GCK p.Gly80Ala VAR_003694
3 GCK p.Gly80Ser VAR_003695 rs155433576
4 GCK p.Ser131Pro VAR_003697 rs104894010
5 GCK p.Gly175Arg VAR_003698 rs587780344
6 GCK p.Val182Met VAR_003699 rs587780345
7 GCK p.Ala188Thr VAR_003700 rs751279776
8 GCK p.Val203Ala VAR_003701
9 GCK p.Glu221Lys VAR_003702 rs193922317
10 GCK p.Val226Met VAR_003703 rs148311934
11 GCK p.Gly227Cys VAR_003704
12 GCK p.Thr228Met VAR_003705 rs80356655
13 GCK p.Glu256Lys VAR_003706 rs769268803
14 GCK p.Trp257Arg VAR_003707 rs155433513
15 GCK p.Gly261Arg VAR_003708 rs104894008
16 GCK p.Glu279Gln VAR_003709 rs104894005
17 GCK p.Gly299Arg VAR_003710 rs104894009
18 GCK p.Glu300Gln VAR_003711
19 GCK p.Glu300Lys VAR_003712 rs125591188
20 GCK p.Leu309Pro VAR_003713
21 GCK p.Lys414Glu VAR_003714 rs193922272
22 GCK p.Arg36Trp VAR_010584 rs762263694
23 GCK p.Ala53Ser VAR_010585
24 GCK p.Tyr108His VAR_010586
25 GCK p.His137Arg VAR_010587
26 GCK p.Phe150Ser VAR_010588 rs193922297
27 GCK p.Thr168Pro VAR_010589
28 GCK p.Thr209Met VAR_010590
29 GCK p.Met210Thr VAR_010591 rs80356654
30 GCK p.Cys213Arg VAR_010592
31 GCK p.Ala259Thr VAR_010593 rs137565663
32 GCK p.Gly261Glu VAR_010594
33 GCK p.Ser336Leu VAR_010595
34 GCK p.Val367Met VAR_010596 rs105752109
35 GCK p.Cys382Tyr VAR_010597
36 GCK p.Ala384Thr VAR_010598 rs137662021
37 GCK p.Arg392Cys VAR_010599 rs116712413
38 GCK p.Leu164Pro VAR_012350
39 GCK p.Met210Lys VAR_012351 rs80356654
40 GCK p.Ile110Thr VAR_012352 rs133897060
41 GCK p.Ala119Asp VAR_012353 rs117665968
42 GCK p.Gly385Val VAR_012354
43 GCK p.Asp217Asn VAR_075222 rs147065275
44 GCK p.Ile225Met VAR_075223
45 GCK p.Glu248Lys VAR_075224 rs759421263
46 GCK p.Cys129Tyr VAR_078246
47 GCK p.Ala188Val VAR_078248 rs193922307
48 GCK p.Arg191Trp VAR_078249 rs108530745
49 GCK p.Met202Arg VAR_078250
50 GCK p.Gly223Ser VAR_078251

Expression for Maturity-Onset Diabetes of the Young, Type 2

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 2.

Pathways for Maturity-Onset Diabetes of the Young, Type 2

Pathways related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
2
Show member pathways
12.72 TCF7L2 SLC2A2 PDX1 KCNJ11 INS GCK
3 12.41 WFS1 PDX1 NEUROD1 INS HNF4A HNF1A
4
Show member pathways
12.29 TCF7L2 HNF4A HNF1B HNF1A
5 12.26 TCF7L2 HNF4A HNF1B HNF1A
6
Show member pathways
12.2 SLC2A2 KCNJ11 INS ABCC8
7 11.97 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1B
8
Show member pathways
11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
9
Show member pathways
11.78 SLC2A2 HK1 GCKR GCK
10
Show member pathways
11.61 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
11 11.53 SLC2A2 HK1 GCK
12 11.48 HNF4A HK1 GCK
13 11.4 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
14
Show member pathways
11.35 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF4A
15 10.81 SLC2A2 INS HK1
16 10.43 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young, Type 2

Cellular components related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.23 TCF7L2 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 TCF7L2 PDX1 PAX4 NEUROD1 INS HNF4A
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 TCF7L2 PDX1 NEUROD1 HNF4A HNF1B HNF1A
3 regulation of transcription by RNA polymerase II GO:0006357 10.07 TCF7L2 PDX1 PAX4 KLF11 HNF4A HNF1B
4 positive regulation of transcription, DNA-templated GO:0045893 10.02 PDX1 NEUROD1 HNF4A HNF1B HNF1A
5 negative regulation of transcription, DNA-templated GO:0045892 10 TCF7L2 PDX1 PAX4 KLF11 HNF4A
6 response to drug GO:0042493 9.93 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
7 carbohydrate metabolic process GO:0005975 9.89 SLC2A2 INS HK1 GCKR GCK
8 response to glucose GO:0009749 9.8 TCF7L2 PDX1 NEUROD1 HNF4A HNF1B HNF1A
9 glucose metabolic process GO:0006006 9.78 PDX1 KCNJ11 INS GCK
10 liver development GO:0001889 9.76 PDX1 HNF1B HNF1A
11 positive regulation of cell differentiation GO:0045597 9.73 PAX4 NEUROD1 INS
12 positive regulation of insulin secretion GO:0032024 9.73 TCF7L2 PDX1 GCK BLK
13 insulin secretion GO:0030073 9.71 PDX1 NEUROD1 HNF1B HNF1A
14 cellular glucose homeostasis GO:0001678 9.69 HK1 GCK ABCC8
15 endocrine pancreas development GO:0031018 9.67 PDX1 PAX4 NEUROD1 HNF1A
16 canonical glycolysis GO:0061621 9.66 HK1 GCK
17 carbohydrate phosphorylation GO:0046835 9.65 HK1 GCK
18 hindbrain development GO:0030902 9.65 NEUROD1 HNF1B
19 signal transduction involved in regulation of gene expression GO:0023019 9.65 NEUROD1 HNF4A
20 nitric oxide mediated signal transduction GO:0007263 9.64 PDX1 NEUROD1
21 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.64 WFS1 PDX1
22 negative regulation of gluconeogenesis GO:0045721 9.63 INS GCK
23 regulation of insulin secretion GO:0050796 9.63 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
24 positive regulation of glycogen biosynthetic process GO:0045725 9.62 INS GCK
25 hepatocyte differentiation GO:0070365 9.61 HNF4A HNF1B
26 glucose 6-phosphate metabolic process GO:0051156 9.59 HK1 GCK
27 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.58 HNF1B HNF1A
28 hexose metabolic process GO:0019318 9.57 HK1 GCK
29 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.56 WFS1 TCF7L2 PDX1 NEUROD1
30 detection of glucose GO:0051594 9.55 PDX1 GCK
31 regulation of pronephros size GO:0035565 9.54 HNF1B HNF1A
32 pancreas development GO:0031016 9.43 WFS1 TCF7L2 PDX1 PAX4 HNF1B HNF1A
33 glucose homeostasis GO:0042593 9.28 WFS1 TCF7L2 PDX1 NEUROD1 INS HNF4A

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.11 TCF7L2 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.88 TCF7L2 PDX1 NEUROD1 HNF4A HNF1A
3 chromatin binding GO:0003682 9.85 TCF7L2 PDX1 NEUROD1 HNF4A HNF1A
4 transcription factor binding GO:0008134 9.84 TCF7L2 PDX1 NEUROD1 HNF1A
5 DNA-binding transcription factor activity GO:0003700 9.8 TCF7L2 PDX1 NEUROD1 KLF11 HNF4A HNF1B
6 double-stranded DNA binding GO:0003690 9.7 PAX4 NEUROD1 HNF1A
7 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.55 HK1 GCK
8 transcription regulatory region DNA binding GO:0044212 9.55 TCF7L2 KLF11 HNF4A HNF1B HNF1A
9 sequence-specific DNA binding GO:0043565 9.5 TCF7L2 PDX1 PAX4 NEUROD1 HNF4A HNF1B
10 glucose binding GO:0005536 9.49 HK1 GCK
11 mannokinase activity GO:0019158 9.43 HK1 GCK
12 fructokinase activity GO:0008865 9.4 HK1 GCK
13 hexokinase activity GO:0004396 9.37 HK1 GCK
14 glucokinase activity GO:0004340 9.32 HK1 GCK
15 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 TCF7L2 PDX1 PAX4 NEUROD1 KLF11 HNF4A

Sources for Maturity-Onset Diabetes of the Young, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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