MODY2
MCID: MTR019
MIFTS: 53

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological 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 57 20 29 6 37
Mody2 57 12 20 72
Mody Glucokinase-Related 12 20 72
Mody Type 2 12 20 72
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 70
Type 2 Maturity-Onset Diabetes of the Young 20
Maturity-Onset Diabetes of the Young 2 72
Diabetes Mellitus Mody Type 2 20
Mody, Glucokinase-Related 57
Mody, Type Ii 57
Mody, Type 2 57
Mody-2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 125851
MeSH 44 D003924
SNOMED-CT via HPO 68 263681008 609561005
UMLS 70 C0342277

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

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 2, also known as mody2, is related to glucose intolerance and gestational diabetes. 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 tannic acid and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and thyroid, and related phenotypes are maturity-onset diabetes of the young and shRNA abundance <= 50%

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 : 72 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 70)
# Related Disease Score Top Affiliating Genes
1 glucose intolerance 29.9 NEUROD1 KCNJ11 INS GCK ABCC8
2 gestational diabetes 29.7 KCNJ11 INS HNF4A HNF1A GCK ABCC8
3 prediabetes syndrome 29.5 SLC2A2 INS HNF4A GCK
4 hyperinsulinism 29.4 KCNJ11 INS HNF4A HNF1A GCK ABCC8
5 diabetes mellitus, permanent neonatal, 1 29.4 PDX1 KCNJ11 INS GCK ABCC8
6 type 1 diabetes mellitus 29.3 WFS1 PDX1 PAX4 NEUROD1 INS HNF4A
7 hypoglycemia 29.1 SLC2A2 KCNJ11 INS GCK ABCC8
8 neonatal diabetes 28.6 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
9 monogenic diabetes 28.6 PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
10 hyperglycemia 28.5 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
11 type 2 diabetes mellitus 28.1 WFS1 SLC2A2 PDX1 PAX4 NEUROD1 KCNJ11
12 permanent neonatal diabetes mellitus 27.8 WFS1 SLC2A2 PDX1 PAX4 NEUROD1 KCNJ11
13 maturity-onset diabetes of the young 27.2 WFS1 SLC2A2 PDX1 PAX4 NEUROD1 KLF11
14 maturity-onset diabetes of the young, type 1 27.0 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
15 maturity-onset diabetes of the young, type 3 26.9 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
16 diabetes mellitus 26.5 WFS1 SLC2A2 PDX1 PAX4 NEUROD1 KLF11
17 maturity-onset diabetes of the young, type 4 26.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
18 hyperinsulinemic hypoglycemia, familial, 3 11.4
19 celiac disease 1 10.2
20 hypothyroidism 10.2
21 lipid metabolism disorder 10.2
22 thyroid gland disease 10.2
23 hepatic adenomas, familial 10.2 HNF4A HNF1A
24 acanthosis nigricans 10.2
25 type 1 diabetes mellitus 20 10.1 INS HNF1A
26 type 1 diabetes mellitus 11 10.1 PDX1 NEUROD1 HNF1A
27 donohue syndrome 10.1 INS GCK
28 fructose-1,6-bisphosphatase deficiency 10.1 GCK ABCC8
29 polyneuropathy due to drug 10.0 WFS1 HNF4A
30 munchausen by proxy 10.0 KCNJ11 GCK ABCC8
31 coronary artery vasospasm 10.0 KCNJ11 ABCC8
32 acute insulin response 10.0 KCNJ11 INS ABCC8
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 INS HNF4A HNF1A GCK
34 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 GCK ABCC8
35 greig cephalopolysyndactyly syndrome 10.0
36 asphyxia neonatorum 9.9 KCNJ11 INS ABCC8
37 hyperinsulinemic hypoglycemia, familial, 6 9.9 KCNJ11 GCK ABCC8
38 aminoaciduria 9.9 HNF4A HNF1A
39 wolfram syndrome 1 9.9 WFS1 KCNJ11 INS
40 factitious disorder 9.9 KCNJ11 INS GCK ABCC8
41 fanconi syndrome 9.9 SLC2A2 HNF4A HNF1A
42 autoimmune disease 9.9
43 body mass index quantitative trait locus 1 9.9
44 hyperinsulinemic hypoglycemia, familial, 5 9.9
45 hyperinsulinemic hypoglycemia, familial, 4 9.9
46 helix syndrome 9.9
47 cantu syndrome 9.9 KCNJ11 ABCC8
48 hyperinsulinemic hypoglycemia, familial, 2 9.8 KCNJ11 INS HNF4A ABCC8
49 renal glucosuria 9.8 SLC2A2 INS HNF1B HNF1A
50 diabetes mellitus, ketosis-prone 9.8 PAX4 KCNJ11 INS 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®:

57 (Updated 05-Apr-2021)
Endo:
diabetes mellitus

Lab:
glucokinase gene defect

Misc:
early onset, mild and relatively uncomplicated course

Clinical features from OMIM®:

125851 (Updated 05-Apr-2021)

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 shRNA abundance <= 50% GR00343-S 9.23 BLK CEL GCK HNF1A KCNJ11 NEUROD1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 ABCC8 BLK GCK HNF1A HNF1B HNF4A
2 homeostasis/metabolism MP:0005376 10.16 ABCC8 BLK CEL GCK GCKR HNF1A
3 growth/size/body region MP:0005378 10.13 ABCC8 CEL GCK HNF1A HNF1B HNF4A
4 liver/biliary system MP:0005370 9.81 CEL GCK GCKR HNF1A HNF1B HNF4A
5 mortality/aging MP:0010768 9.7 GCK HNF1A HNF1B HNF4A INS KCNJ11
6 renal/urinary system MP:0005367 9.17 GCK HNF1A HNF1B HNF4A 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1 1401-55-4
2
Glucagon Approved Phase 1 16941-32-5
3
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
4
Somatostatin Approved, Investigational Phase 1 38916-34-6, 51110-01-1 53481605
5 insulin Phase 1
6 Insulin, Globin Zinc Phase 1
7 Glucagon-Like Peptide 1 Phase 1
8 Hormones Phase 1
9
Pancrelipase Approved, Investigational 53608-75-6
10
Insulin aspart Approved 116094-23-6 16132418
11
Insulin detemir Approved 169148-63-4 5311023
12
Insulin glargine Approved 160337-95-1
13
Insulin lispro Approved 133107-64-9
14 pancreatin
15 Isophane insulin, beef
16 Isophane Insulin, Human
17 Hypoglycemic Agents
18 Insulin, Isophane

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family Unknown status NCT01960231
3 Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2 Unknown status 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
Liver, Pancreas, Thyroid

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 241)
# Title Authors PMID Year
1
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. 61 57 6
15102714 2004
2
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 6 57 61
12050210 2002
3
Insight into the biochemical characteristics of a novel glucokinase gene mutation. 6 57
21104275 2011
4
Six novel mutations in the GCK gene in MODY patients. 6 57
17204055 2007
5
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 57 6
16965331 2006
6
Mutations in the glucokinase gene of the fetus result in reduced birth weight. 57 6
9662401 1998
7
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. 6 57
1570017 1992
8
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. 6 57
1545870 1992
9
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. 6 61
30592380 2019
10
Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients. 6 61
30257192 2018
11
Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. 6 61
24735133 2015
12
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). 6 61
24578721 2014
13
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 6 61
20337973 2010
14
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type. 61 6
19187021 2009
15
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 61 6
18399931 2008
16
Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2). 61 6
18411240 2008
17
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. 6 61
18248649 2008
18
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. 61 6
18382660 2008
19
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 61 6
17573900 2007
20
Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. 6 61
16632067 2006
21
Glucokinase mutations in young children with hyperglycemia. 61 6
16444761 2006
22
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 61 6
16602010 2006
23
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 6 61
16731834 2006
24
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). 6 61
15305805 2004
25
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. 61 6
12955723 2003
26
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. 6 61
12627330 2003
27
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 6 61
12442280 2002
28
Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus. 6 61
11772903 2002
29
Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY). 6
29510678 2018
30
Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes. 6
30155490 2018
31
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families. 6
28170077 2017
32
Novel glucokinase gene mutation in the first Macedonian family tested for MODY. 6
28575730 2017
33
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. 6
27271189 2016
34
Adolescent non-adherence reveals a genetic cause for diabetes. 6
25494859 2015
35
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. 6
25082184 2015
36
Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young. 6
26552609 2015
37
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 6
25015100 2014
38
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. 6
25306193 2014
39
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 6
25182307 2014
40
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. 6
24430320 2014
41
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. 6
24097065 2013
42
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. 6
23771172 2013
43
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. 6
22820548 2012
44
Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. 6
23295292 2012
45
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. 6
22060211 2012
46
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. 6
21395678 2011
47
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 6
19790256 2009
48
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 6
19564454 2009
49
Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. 6
19309449 2009
50
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 6
19339519 2009

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

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

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCK GCK, IVS4DS, 15-BP DEL Deletion Pathogenic 16137 GRCh37:
GRCh38:
2 GCK NM_000162.5(GCK):c.835G>T (p.Glu279Ter) SNV Pathogenic 16132 rs104894005 GRCh37: 7:44187277-44187277
GRCh38: 7:44147678-44147678
3 GCK NM_000162.5(GCK):c.391T>C (p.Ser131Pro) SNV Pathogenic 16138 rs104894010 GRCh37: 7:44190647-44190647
GRCh38: 7:44151048-44151048
4 GCK NM_000162.5(GCK):c.793G>T (p.Glu265Ter) SNV Pathogenic 16139 rs104894011 GRCh37: 7:44187319-44187319
GRCh38: 7:44147720-44147720
5 GCK NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) SNV Pathogenic 16145 rs104894016 GRCh37: 7:44185217-44185217
GRCh38: 7:44145618-44145618
6 GCK NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) SNV Pathogenic 39759 rs397514580 GRCh37: 7:44186066-44186066
GRCh38: 7:44146467-44146467
7 GCK NM_000162.5(GCK):c.706G>A (p.Glu236Lys) SNV Pathogenic 129146 rs587780347 GRCh37: 7:44187406-44187406
GRCh38: 7:44147807-44147807
8 GCK NM_000162.5(GCK):c.629T>A (p.Met210Lys) SNV Pathogenic 16141 rs80356654 GRCh37: 7:44189409-44189409
GRCh38: 7:44149810-44149810
9 GCK NM_000162.5(GCK):c.317_333del (p.Gln106fs) Deletion Pathogenic 211071 rs797045595 GRCh37: 7:44191900-44191916
GRCh38: 7:44152301-44152317
10 GCK NM_000162.5(GCK):c.112C>T (p.Gln38Ter) SNV Pathogenic 236192 rs878853246 GRCh37: 7:44192996-44192996
GRCh38: 7:44153397-44153397
11 GCK NM_000162.5(GCK):c.941T>C (p.Leu314Pro) SNV Pathogenic 435305 rs1554334886 GRCh37: 7:44186140-44186140
GRCh38: 7:44146541-44146541
12 GCK NM_000162.5(GCK):c.678_679+2del Deletion Pathogenic 435308 rs1554335391 GRCh37: 7:44189357-44189360
GRCh38: 7:44149758-44149761
13 GCK NM_000162.5(GCK):c.775G>A (p.Ala259Thr) SNV Pathogenic 435302 rs1375656631 GRCh37: 7:44187337-44187337
GRCh38: 7:44147738-44147738
14 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic 435306 rs1360415315 GRCh37: 7:44189371-44189371
GRCh38: 7:44149772-44149772
15 GCK NM_000162.5(GCK):c.295del (p.Trp99fs) Deletion Pathogenic 435304 rs1554335752 GRCh37: 7:44191938-44191938
GRCh38: 7:44152339-44152339
16 GCK NM_000162.5(GCK):c.1253+2T>A SNV Pathogenic 393449 rs1057524902 GRCh37: 7:44185094-44185094
GRCh38: 7:44145495-44145495
17 GCK NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) SNV Pathogenic 617645 rs556581174 GRCh37: 7:44185236-44185236
GRCh38: 7:44145637-44145637
18 GCK NM_000162.5(GCK):c.148C>T (p.His50Tyr) SNV Pathogenic 631495 rs1562719705 GRCh37: 7:44192960-44192960
GRCh38: 7:44153361-44153361
19 GCK NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) Duplication Pathogenic 802307 rs1583592247 GRCh37: 7:44185314-44185315
GRCh38: 7:44145715-44145716
20 GCK NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) SNV Pathogenic 802309 rs780612692 GRCh37: 7:44192925-44192925
GRCh38: 7:44153326-44153326
21 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic 435306 rs1360415315 GRCh37: 7:44189371-44189371
GRCh38: 7:44149772-44149772
22 GCK NM_000162.5(GCK):c.1254-20_1312del Deletion Pathogenic 916047 GRCh37: 7:44184821-44184899
GRCh38: 7:44145222-44145300
23 GCK NM_000162.5(GCK):c.214G>C (p.Gly72Arg) SNV Pathogenic 976334 GRCh37: 7:44192019-44192019
GRCh38: 7:44152420-44152420
24 GCK NM_000162.5(GCK):c.895G>C (p.Gly299Arg) SNV Pathogenic 16136 rs104894009 GRCh37: 7:44186186-44186186
GRCh38: 7:44146587-44146587
25 GCK NM_000162.5(GCK):c.680-1G>A SNV Pathogenic 393452 rs1057524905 GRCh37: 7:44187433-44187433
GRCh38: 7:44147834-44147834
26 GCK NM_000162.5(GCK):c.944T>A (p.Leu315His) SNV Pathogenic 36266 rs193922338 GRCh37: 7:44186137-44186137
GRCh38: 7:44146538-44146538
27 GCK NM_000162.5(GCK):c.781G>A (p.Gly261Arg) SNV Pathogenic 16135 rs104894008 GRCh37: 7:44187331-44187331
GRCh38: 7:44147732-44147732
28 GCK NM_000162.5(GCK):c.683C>T (p.Thr228Met) SNV Pathogenic 16134 rs80356655 GRCh37: 7:44187429-44187429
GRCh38: 7:44147830-44147830
29 GCK NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) SNV Pathogenic 36238 rs144723656 GRCh37: 7:44189393-44189393
GRCh38: 7:44149794-44149794
30 GCK NM_000162.5(GCK):c.871A>T (p.Lys291Ter) SNV Pathogenic 36263 rs193922335 GRCh37: 7:44186210-44186210
GRCh38: 7:44146611-44146611
31 GCK NM_000162.5(GCK):c.571C>T (p.Arg191Trp) SNV Pathogenic 426122 rs1085307455 GRCh37: 7:44189576-44189576
GRCh38: 7:44149977-44149977
32 GCK NM_000162.5(GCK):c.184G>A (p.Val62Met) SNV Pathogenic 419624 rs1064793998 GRCh37: 7:44192924-44192924
GRCh38: 7:44153325-44153325
33 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys) SNV Pathogenic 265175 rs769268803 GRCh37: 7:44187346-44187346
GRCh38: 7:44147747-44147747
34 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met) SNV Pathogenic 36243 rs148311934 GRCh37: 7:44189362-44189362
GRCh38: 7:44149763-44149763
35 GCK NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) SNV Pathogenic 429500 rs1131691416 GRCh37: 7:44184793-44184793
GRCh38: 7:44145194-44145194
36 GCK NM_000162.5(GCK):c.106C>T (p.Arg36Trp) SNV Pathogenic 431973 rs762263694 GRCh37: 7:44193002-44193002
GRCh38: 7:44153403-44153403
37 GCK NM_000162.5(GCK):c.491T>C (p.Leu164Pro) SNV Pathogenic 997861 GRCh37: 7:44189656-44189656
GRCh38: 7:44150057-44150057
38 GCK NM_000162.5(GCK):c.214G>A (p.Gly72Arg) SNV Pathogenic 36209 rs193922289 GRCh37: 7:44192019-44192019
GRCh38: 7:44152420-44152420
39 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic 129144 rs587780345 GRCh37: 7:44189603-44189603
GRCh38: 7:44150004-44150004
40 GCK NM_000162.5(GCK):c.45+1G>T SNV Pathogenic 619964 rs781260712 GRCh37: 7:44228507-44228507
GRCh38: 7:44188908-44188908
41 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic 129144 rs587780345 GRCh37: 7:44189603-44189603
GRCh38: 7:44150004-44150004
42 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic 129144 rs587780345 GRCh37: 7:44189603-44189603
GRCh38: 7:44150004-44150004
43 GCK NM_000162.5(GCK):c.562G>A (p.Ala188Thr) SNV Pathogenic 804849 rs751279776 GRCh37: 7:44189585-44189585
GRCh38: 7:44149986-44149986
44 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met) SNV Pathogenic/Likely pathogenic 36243 rs148311934 GRCh37: 7:44189362-44189362
GRCh38: 7:44149763-44149763
45 GCK NM_000162.5(GCK):c.76C>T (p.Gln26Ter) SNV Likely pathogenic 36256 rs193922329 GRCh37: 7:44193032-44193032
GRCh38: 7:44153433-44153433
46 GCK NM_000162.5(GCK):c.787T>C (p.Ser263Pro) SNV Likely pathogenic 36258 rs193922331 GRCh37: 7:44187325-44187325
GRCh38: 7:44147726-44147726
47 GCK NM_000162.5(GCK):c.907C>T (p.Arg303Trp) SNV Likely pathogenic 36264 rs193922336 GRCh37: 7:44186174-44186174
GRCh38: 7:44146575-44146575
48 GCK NM_000162.5(GCK):c.917T>C (p.Leu306Pro) SNV Likely pathogenic 36265 rs193922337 GRCh37: 7:44186164-44186164
GRCh38: 7:44146565-44146565
49 GCK NM_000162.5(GCK):c.1003del (p.Val335fs) Deletion Likely pathogenic 36166 rs193922254 GRCh37: 7:44186078-44186078
GRCh38: 7:44146479-44146479
50 GCK NM_000162.5(GCK):c.449T>C (p.Phe150Ser) SNV Likely pathogenic 36218 rs193922297 GRCh37: 7:44190589-44190589
GRCh38: 7:44150990-44150990

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

72 (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 rs156271705
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 rs193922292
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 rs772754004
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 rs136041531

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
2
Show member pathways
12.68 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
3 12.4 WFS1 PDX1 NEUROD1 INS HNF4A HNF1A
4
Show member pathways
12.12 SLC2A2 KCNJ11 INS ABCC8
5
Show member pathways
11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
6 11.92 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1B
7
Show member pathways
11.67 SLC2A2 GCKR GCK
8
Show member pathways
11.61 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
9 11.4 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
10
Show member pathways
11.3 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF4A
11 10.71 SLC2A2 INS
12 10.38 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 chromatin GO:0000785 9.5 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.1 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.03 WFS1 PDX1 PAX4 KLF11 HNF1A
3 positive regulation of transcription, DNA-templated GO:0045893 9.99 PDX1 NEUROD1 HNF4A HNF1B HNF1A
4 response to drug GO:0042493 9.88 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
5 carbohydrate metabolic process GO:0005975 9.84 SLC2A2 INS GCKR GCK
6 response to glucose GO:0009749 9.76 PDX1 NEUROD1 HNF4A HNF1A
7 glucose metabolic process GO:0006006 9.73 PDX1 KCNJ11 INS GCK
8 liver development GO:0001889 9.72 PDX1 HNF1B HNF1A
9 positive regulation of cell differentiation GO:0045597 9.7 PAX4 NEUROD1 INS
10 positive regulation of insulin secretion GO:0032024 9.69 PDX1 GCK BLK
11 pancreas development GO:0031016 9.65 WFS1 PDX1 PAX4 HNF1B HNF1A
12 cellular glucose homeostasis GO:0001678 9.63 GCK ABCC8
13 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.62 WFS1 PDX1
14 signal transduction involved in regulation of gene expression GO:0023019 9.62 NEUROD1 HNF4A
15 insulin secretion GO:0030073 9.62 PDX1 NEUROD1 HNF1B HNF1A
16 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.61 HNF1B HNF1A
17 negative regulation of gluconeogenesis GO:0045721 9.61 INS GCK
18 nitric oxide mediated signal transduction GO:0007263 9.6 PDX1 NEUROD1
19 inorganic cation transmembrane transport GO:0098662 9.58 KCNJ11 ABCC8
20 positive regulation of glycogen biosynthetic process GO:0045725 9.58 INS GCK
21 hepatocyte differentiation GO:0070365 9.57 HNF4A HNF1B
22 endocrine pancreas development GO:0031018 9.55 PDX1 PAX4 NEUROD1 HNF1B HNF1A
23 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.54 WFS1 PDX1 NEUROD1
24 detection of glucose GO:0051594 9.49 PDX1 GCK
25 regulation of pronephros size GO:0035565 9.48 HNF1B HNF1A
26 regulation of insulin secretion GO:0050796 9.43 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
27 glucose homeostasis GO:0042593 9.23 WFS1 PDX1 NEUROD1 INS HNF4A HNF1A

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.77 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 chromatin binding GO:0003682 9.76 PDX1 NEUROD1 HNF4A HNF1A
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
4 sequence-specific DNA binding GO:0043565 9.65 PDX1 NEUROD1 HNF4A HNF1B HNF1A
5 double-stranded DNA binding GO:0003690 9.61 PAX4 NEUROD1 HNF1A
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
7 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ11 ABCC8
9 DNA-binding transcription factor activity GO:0003700 9.1 PDX1 NEUROD1 KLF11 HNF4A HNF1B HNF1A

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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