PKD2
MCID: PLY172
MIFTS: 52

Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease (PKD2)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

MalaCards integrated aliases for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

Name: Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57 72
Polycystic Kidney Disease 2 57 12 29 13 6 15
Pkd2 57 12 72
Polycystic Kidney Disease, Adult, Type Ii 57 12
Polycystic Kidney Disease, Type 2 73 70
Apkd2 57 12
Polycystic Kidney Type 2 Autosomal Dominant Disease 54
Polycystic Kidney Disease, Adult, Type Ii; Apkd2 57
Autosomal Dominant Polycystic Kidney Disease 2 72
Polycystic Kidney Disease Adult Type Ii 72
Adult Polycystic Kidney Disease Type 2 72
Kidney Disease, Polycystic, Type 2 39
Adpkd2 72
Pkd-2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
progressive disorder
patients usually present as adults
mean age of onset of end-stage renal disease is 70 years (later than in pkd1)
one family with perinatal onset resulting in perinatal death has been reported

Inheritance:
autosomal dominant


HPO:

31
polycystic kidney disease 2 with or without polycystic liver disease:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110859
OMIM® 57 613095
OMIM Phenotypic Series 57 PS173900
MedGen 41 C2751306
UMLS 70 C2751306

Summaries for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

UniProtKB/Swiss-Prot : 72 Polycystic kidney disease 2 with or without polycystic liver disease: An autosomal dominant disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end- stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy.

MalaCards based summary : Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 2, is related to liver disease and end stage renal disease. An important gene associated with Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Taste transduction. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are hypertension and facial asymmetry

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.

Wikipedia : 73 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder... more...

More information from OMIM: 613095 PS173900

Related Diseases for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Diseases in the Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease family:

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease

Diseases related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 liver disease 31.9 SEC63 PRKCSH PKHD1 PKD2 PKD1
2 end stage renal disease 31.9 PKD2 PKD1 NEK8 INVS
3 joubert syndrome 7 31.7 PKD2 ARL13B
4 kidney disease 31.6 PKHD1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L1
5 orthostatic intolerance 31.4 SEC63 PRKCSH PKHD1 PKD2 PKD1
6 polycystic liver disease 1 with or without kidney cysts 31.4 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
7 autosomal dominant polycystic kidney disease 31.4 SEC63 PRKD1 PRKCSH PKHD1 PKD2L2 PKD2L1
8 polycystic kidney disease 31.2 PRKD1 PRKCSH PKHD1 PKD2L2 PKD2L1 PKD2
9 asphyxiating thoracic dystrophy 31.2 PKD2 NEK8 KIF3A INVS IFT88 IFT20
10 caroli disease 31.1 SEC63 PRKCSH PKHD1 PKD2 PKD1 INVS
11 fundus dystrophy 31.1 PKD2 NEK8 KIF3A INVS IFT88 IFT20
12 nephronophthisis 2 31.0 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
13 polycystic liver disease 30.8 SEC63 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2
14 visceral heterotaxy 30.8 PKD2 PKD1L1 PKD1 NEK8 KIF3A KIF17
15 bardet-biedl syndrome 30.8 PKHD1 PKD2 PKD1 NEK8 KIF3A KIF17
16 nephronophthisis 30.7 PRKD1 PKHD1 PKD2 PKD1 NEK8 KIF3A
17 meckel syndrome, type 1 30.7 PKHD1 PKD2 PKD1 NEK8 KIF3A KIF17
18 primary ciliary dyskinesia 30.7 PKD2 PKD1L1 PKD1 NEK8 KIF3A KIF17
19 retinitis pigmentosa 30.6 SEC63 PKHD1 PKD2 PKD1 NEK8 KIF3A
20 joubert syndrome 1 30.6 SEC63 PRKCSH PKHD1 PKD2 PKD1L1 PKD1
21 kartagener syndrome 30.6 PKHD1 PKD2 PKD1L1 PKD1 NEK8 KIF3A
22 polycystic kidney disease 4 with or without polycystic liver disease 30.4 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
23 cystic kidney disease 30.3 SEC63 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2
24 polycystic kidney disease 1 with or without polycystic liver disease 30.1 SEC63 PRKD1 PRKCSH PKHD1 PKD2L2 PKD2L1
25 chronic kidney disease 11.1
26 hypertension, essential 11.0
27 dilated cardiomyopathy 11.0
28 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
29 mucolipidosis iv 10.8
30 autosomal genetic disease 10.8
31 prostatic cyst 10.8
32 cerebral arterial disease 10.8
33 hydrocele 10.8
34 multicystic dysplastic kidney 10.4 PKD2 PKD1
35 congenital hepatic fibrosis 10.4 PKHD1 PKD1
36 joubert syndrome 24 10.3 IFT88 ARL13B
37 bardet-biedl syndrome 6 10.3 KIF3A INVS IFT88
38 meckel syndrome, type 3 10.3 INVS IFT88 ARL13B
39 bardet-biedl syndrome 8 10.3 KIF17 IFT88 IFT20
40 nephronophthisis-like nephropathy 1 10.3 SEC63 PRKCSH
41 renal-hepatic-pancreatic dysplasia 10.3 PKHD1 NEK8 INVS
42 nephronophthisis 13 10.3 NEK8 INVS
43 infantile nephronophthisis 10.2 NEK8 INVS
44 meckel syndrome, type 6 10.2 KIF17 INVS ARL13B
45 right atrial isomerism 10.2 NEK8 INVS DAND5
46 nephronophthisis 7 10.2 NEK8 INVS
47 physical disorder 10.2 INVS IFT88 ARL13B
48 oligohydramnios 10.2 PKHD1 INVS HNF1B
49 ellis-van creveld syndrome 10.2 KIF3A INVS IFT88 ARL13B
50 nephronophthisis 15 10.2 NEK8 INVS

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:



Diseases related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Human phenotypes related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 occasional (7.5%) HP:0000822
2 facial asymmetry 31 occasional (7.5%) HP:0000324
3 midface retrusion 31 occasional (7.5%) HP:0011800
4 situs inversus totalis 31 occasional (7.5%) HP:0001696
5 hepatic cysts 31 occasional (7.5%) HP:0001407
6 polycystic kidney dysplasia 31 HP:0000113
7 recurrent urinary tract infections 31 HP:0000010
8 stage 5 chronic kidney disease 31 HP:0003774
9 elevated serum creatinine 31 HP:0003259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
renal insufficiency
polycystic kidneys
end-stage renal disease
enlarged kidneys
urinary tract infections

Cardiovascular Vascular:
hypertension (in some patients)

Abdomen:
situs inversus (in some patients)
laterality defects (in some patients)

Cardiovascular Heart:
dextrocardia (in some patients)

Laboratory Abnormalities:
increased serum creatinine

Head And Neck Face:
facial asymmetry (in some patients)
midface hypoplasia (in some patients)
craniofacial defects, subtle (in some patients)
compressed temporomandibular joints (in some patients)

Head And Neck Teeth:
abnormal tooth position (in some patients)

Abdomen Liver:
hepatic cysts (in some patients)

Clinical features from OMIM®:

613095 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 ADCY6 DAND5 IFT88 INVS KIF3A NEK8
2 homeostasis/metabolism MP:0005376 10.2 ADCY6 ARL13B HNF1B IFT20 IFT88 INVS
3 cellular MP:0005384 10.17 ARL13B HNF1B IFT20 IFT88 INVS KIF3A
4 mortality/aging MP:0010768 10.03 ARL13B DAND5 HNF1B IFT20 IFT88 INVS
5 embryo MP:0005380 10.02 ARL13B DAND5 HNF1B IFT88 INVS KIF3A
6 digestive/alimentary MP:0005381 10.01 IFT88 INVS KIF3A NEK8 PKD1 PKD1L1
7 liver/biliary system MP:0005370 9.86 HNF1B IFT88 INVS PKD1 PKD2 PKHD1
8 renal/urinary system MP:0005367 9.8 ADCY6 ARL13B HNF1B IFT20 IFT88 INVS
9 respiratory system MP:0005388 9.32 ARL13B DAND5 IFT88 INVS KIF3A NEK8

Drugs & Therapeutics for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study Completed NCT02112136

Search NIH Clinical Center for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease

Genetic Tests for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 2 29 PKD2

Anatomical Context for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

40
Kidney, Liver, Endothelial

Publications for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Articles related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. 61 57 6
9402976 1997
2
Association of PKD2 (polycystin 2) mutations with left-right laterality defects. 57 6
21719175 2011
3
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. 6 57
18635443 2008
4
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. 57 6
9949210 1999
5
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 6 57
8650545 1996
6
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). 57 61
23390131 2013
7
Mutations of the human polycystic kidney disease 2 (PKD2) gene. 61 57
11438989 2001
8
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. 54 57
10023895 1999
9
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. 61 57
9773786 1998
10
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. 6 61
9573526 1998
11
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). 6 61
9175744 1997
12
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy. 57
22114106 2012
13
The ion channel polycystin-2 is required for left-right axis determination in mice. 57
12062060 2002
14
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. 57
11156533 2001
15
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. 57
10835625 2000
16
Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. 57
10655555 2000
17
Cardiac defects and renal failure in mice with targeted mutations in Pkd2. 57
10615132 2000
18
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 6
10541293 1999
19
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. 57
10417277 1999
20
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). 57
9326320 1997
21
DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease. 57
7666395 1995
22
Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2. 57
7825585 1995
23
Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. 57
8307555 1993
24
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. 57
8298643 1993
25
A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3. 57
8261645 1993
26
Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis. 57
8340115 1993
27
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. 57
1360045 1992
28
Autosomal dominant polycystic kidney disease: new information for genetic counselling. 57
1605247 1992
29
Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family. 57
1676697 1991
30
Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. 57
1980516 1990
31
Possible locus for polycystic kidney disease on chromosome 2. 57
1974020 1990
32
Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? 57
1975629 1990
33
Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus. 57
2370053 1990
34
Linkage heterogeneity of autosomal dominant polycystic kidney disease. 57
2843768 1988
35
A second genetic locus for autosomal dominant polycystic kidney disease. 57
2898665 1988
36
[A case of Caroli's disease confirmed by pathology, atypical symptoms and images]. 61
33685088 2021
37
Optogenetic Activation of Type III Taste Cells Modulates Taste Responses. 61
32582939 2020
38
Ca2+/calmodulin-dependent regulation of polycystic kidney disease 2-like-1 by binding at C-terminal domain. 61
32395079 2020
39
Ca2+/calmodulin-dependent regulation of polycystic kidney disease 2-like-1 by binding at C-terminal domain. 61
32392919 2020
40
Blood Flow Limits Endothelial Cell Extrusion in the Zebrafish Dorsal Aorta. 61
32294443 2020
41
Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease. 61
33437386 2020
42
TRPP2 associates with STIM1 to regulate cerebral vasoconstriction and enhance high salt intake-induced hypertensive cerebrovascular spasm. 61
31541223 2019
43
The role of calmodulin in regulating calcium-permeable PKD2L1 channel activity. 61
31080352 2019
44
Physiological and Behavioral Responses to Optogenetic Stimulation of PKD2L1+ Type III Taste Cells. 61
31092545 2019
45
Author Correction: Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. 61
30914650 2019
46
Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease. 61
31160911 2019
47
Deficiency of PKD2L1 (TRPP3) Exacerbates Pathological Cardiac Hypertrophy by Augmenting NCX1-Mediated Mitochondrial Calcium Overload. 61
30089272 2018
48
Novel long-range regulatory mechanisms controlling PKD2 gene expression. 61
29986647 2018
49
Cryo-EM structure of the polycystin 2-l1 ion channel. 61
30004384 2018
50
Regulation of KLF12 by microRNA-20b and microRNA-106a in cystogenesis. 61
29475398 2018

Variations for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

ClinVar genetic disease variations for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

6 (show top 50) (show all 209)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2 NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) SNV Pathogenic 431056 rs1135401753 GRCh37: 4:88967932-88967932
GRCh38: 4:88046780-88046780
2 PKD2 NM_000297.4(PKD2):c.986del (p.Gly329fs) Deletion Pathogenic 522425 rs1553925459 GRCh37: 4:88959544-88959544
GRCh38: 4:88038392-88038392
3 PKD2 NM_000297.4(PKD2):c.1088del (p.Gly363fs) Deletion Pathogenic 522438 rs1553925467 GRCh37: 4:88959646-88959646
GRCh38: 4:88038494-88038494
4 PKD2 NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs) Indel Pathogenic 599090 rs1560620277 GRCh37: 4:88977258-88977267
GRCh38: 4:88056106-88056115
5 PKD2 NM_000297.4(PKD2):c.2503dup (p.Ser835fs) Duplication Pathogenic 599111 rs1560628245 GRCh37: 4:88989191-88989192
GRCh38: 4:88068039-88068040
6 PKD2 NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs) Indel Pathogenic 599156 rs1560608729 GRCh37: 4:88959558-88959558
GRCh38: 4:88038406-88038406
7 PKD2 NM_000297.4(PKD2):c.1320-2del Deletion Pathogenic 638001 rs1578135823 GRCh37: 4:88967792-88967792
GRCh38: 4:88046640-88046640
8 PKD2 NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter) Duplication Pathogenic 811405 rs1578144873 GRCh37: 4:88983088-88983089
GRCh38: 4:88061936-88061937
9 PKD2 NM_000297.4(PKD2):c.595+1G>C SNV Pathogenic 811939 rs1578111778 GRCh37: 4:88929481-88929481
GRCh38: 4:88008329-88008329
10 PKD2 NM_000297.4(PKD2):c.2378_2384del (p.His793fs) Deletion Pathogenic 873384 GRCh37: 4:88989067-88989073
GRCh38: 4:88067915-88067921
11 PKD2 NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) Duplication Pathogenic 873388 GRCh37: 4:88929080-88929081
GRCh38: 4:88007928-88007929
12 PKD2 NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter) SNV Pathogenic 873389 GRCh37: 4:88957406-88957406
GRCh38: 4:88036254-88036254
13 PKD2 NM_000297.4(PKD2):c.405del (p.Ala136fs) Deletion Pathogenic 873403 GRCh37: 4:88929290-88929290
GRCh38: 4:88008138-88008138
14 PKD2 NM_000297.4(PKD2):c.1857del (p.Phe619fs) Deletion Pathogenic 931416 GRCh37: 4:88977376-88977376
GRCh38: 4:88056224-88056224
15 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) Deletion Pathogenic 523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
16 PKD2 NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) Indel Pathogenic 373955 rs1057518797 GRCh37: 4:88929242-88929249
GRCh38: 4:88008090-88008097
17 PKD2 NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) SNV Pathogenic 13521 rs121918042 GRCh37: 4:88967864-88967864
GRCh38: 4:88046712-88046712
18 PKD2 NM_000297.4(PKD2):c.2159dup (p.Asn720fs) Duplication Pathogenic 13522 rs757757289 GRCh37: 4:88986558-88986559
GRCh38: 4:88065406-88065407
19 PKD2 NM_000297.4(PKD2):c.1319+1G>A SNV Pathogenic 430967 rs1131692280 GRCh37: 4:88964610-88964610
GRCh38: 4:88043458-88043458
20 PKD2 NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) SNV Pathogenic 618321 rs778235410 GRCh37: 4:88989098-88989098
GRCh38: 4:88067946-88067946
21 PKD2 NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) SNV Pathogenic 543947 rs1302726543 GRCh37: 4:88940651-88940651
GRCh38: 4:88019499-88019499
22 PKD2 NM_000297.4(PKD2):c.2019+1G>A SNV Pathogenic 477626 rs1553927080 GRCh37: 4:88979256-88979256
GRCh38: 4:88058104-88058104
23 PKD2 NM_000297.4(PKD2):c.1094+3_1094+6del Deletion Pathogenic 434014 rs1553925470 GRCh37: 4:88959654-88959657
GRCh38: 4:88038502-88038505
24 PKD2 NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) SNV Pathogenic 811568 rs1578129049 GRCh37: 4:88957403-88957403
GRCh38: 4:88036251-88036251
25 PKD2 NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) SNV Pathogenic 636770 rs1578130676 GRCh37: 4:88959640-88959640
GRCh38: 4:88038488-88038488
26 PKD2 NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) SNV Pathogenic 562248 rs1324209174 GRCh37: 4:88964539-88964539
GRCh38: 4:88043387-88043387
27 PKD2 NM_000297.4(PKD2):c.1445del (p.Phe482fs) Deletion Pathogenic 974543 GRCh37: 4:88967917-88967917
GRCh38: 4:88046765-88046765
28 PKD2 NM_000297.4(PKD2):c.2119-2A>G SNV Pathogenic 974544 GRCh37: 4:88986524-88986524
GRCh38: 4:88065372-88065372
29 PKD2 NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) SNV Pathogenic 805200 rs1276594505 GRCh37: 4:88989110-88989110
GRCh38: 4:88067958-88067958
30 PKD2 NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) SNV Pathogenic 13518 rs121918040 GRCh37: 4:88986631-88986631
GRCh38: 4:88065479-88065479
31 PKD2 NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) SNV Pathogenic 523770 rs369678636 GRCh37: 4:88995974-88995974
GRCh38: 4:88074822-88074822
32 PKD2 NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) SNV Pathogenic 448036 rs755226061 GRCh37: 4:88996055-88996055
GRCh38: 4:88074903-88074903
33 PKD2 NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) SNV Pathogenic 397507 rs200001068 GRCh37: 4:88959475-88959475
GRCh38: 4:88038323-88038323
34 PKD2 NM_000297.4(PKD2):c.2020-1_2020del Deletion Pathogenic 449307 rs1553927436 GRCh37: 4:88983056-88983057
GRCh38: 4:88061904-88061905
35 PKD2 NM_000297.4(PKD2):c.1094+1G>A SNV Pathogenic 280008 rs58606740 GRCh37: 4:88959654-88959654
GRCh38: 4:88038502-88038502
36 PKD2 NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) SNV Pathogenic 477625 rs1553926905 GRCh37: 4:88977295-88977295
GRCh38: 4:88056143-88056143
37 PKD2 NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) SNV Pathogenic 411870 rs1060503526 GRCh37: 4:88959532-88959532
GRCh38: 4:88038380-88038380
38 PKD2 NM_000297.4(PKD2):c.2524del (p.Leu842fs) Deletion Pathogenic 438702 rs1553928730 GRCh37: 4:88995964-88995964
GRCh38: 4:88074812-88074812
39 PKD2 NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) SNV Pathogenic 930405 GRCh37: 4:88973263-88973263
GRCh38: 4:88052111-88052111
40 PKD2 NM_000297.4(PKD2):c.2522+1_2522+2del Microsatellite Pathogenic 975054 GRCh37: 4:88989212-88989213
GRCh38: 4:88068060-88068061
41 PKD2 NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter) SNV Pathogenic 873381 GRCh37: 4:88967954-88967954
GRCh38: 4:88046802-88046802
42 PKD2 NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) SNV Pathogenic 562296 rs555242193 GRCh37: 4:88986959-88986959
GRCh38: 4:88065807-88065807
43 PKD2 NM_000297.4(PKD2):c.602G>A (p.Trp201Ter) SNV Pathogenic 873375 GRCh37: 4:88940616-88940616
GRCh38: 4:88019464-88019464
44 PKD2 NM_000297.4(PKD2):c.1551del (p.Ser518fs) Deletion Pathogenic 873343 GRCh37: 4:88973145-88973145
GRCh38: 4:88051993-88051993
45 PKD2 NM_000297.4(PKD2):c.2019+1_2019+5del Deletion Pathogenic 829998 rs1578142941 GRCh37: 4:88979254-88979258
GRCh38: 4:88058102-88058106
46 PKD2 NM_000297.4(PKD2):c.2844del (p.Ser949fs) Deletion Pathogenic 972675 GRCh37: 4:88996782-88996782
GRCh38: 4:88075630-88075630
47 PKD2 NM_000297.4(PKD2):c.654_655del (p.Ser219fs) Deletion Pathogenic 811885 rs1578118330 GRCh37: 4:88940666-88940667
GRCh38: 4:88019514-88019515
48 PKD2 NM_000297.4(PKD2):c.136_210delinsGCGGG (p.Leu46fs) Indel Pathogenic 811862 rs1578111209 GRCh37: 4:88929021-88929095
GRCh38: 4:88007869-88007943
49 PKD2 NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) SNV Pathogenic 811796 rs1578147448 GRCh37: 4:88986915-88986915
GRCh38: 4:88065763-88065763
50 PKD2 NM_000297.4(PKD2):c.1325del (p.Leu442fs) Deletion Pathogenic 635531 rs1578135829 GRCh37: 4:88967798-88967798
GRCh38: 4:88046646-88046646

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

72
# Symbol AA change Variation ID SNP ID
1 PKD2 p.Trp414Gly VAR_009195
2 PKD2 p.Ala356Pro VAR_011073
3 PKD2 p.Arg306Gln VAR_058822 rs990932947
4 PKD2 p.Arg322Gln VAR_058823 rs145877597
5 PKD2 p.Arg322Trp VAR_058824 rs155392545
6 PKD2 p.Arg420Gly VAR_058825
7 PKD2 p.Asp511Val VAR_058827 rs121918043
8 PKD2 p.Cys632Arg VAR_058828
9 PKD2 p.Arg807Gln VAR_058830 rs147654263
10 PKD2 p.Ala384Pro VAR_064394

Expression for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Pathways related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 PKD2 PKD1 KIF3A KIF17 IFT88 IFT20
2
Show member pathways
11.53 PKD2L1 PKD1L3 ADCY6
3
Show member pathways
11.36 PKD2 PKD1 ARL13B
4 10.54 KIF3A KIF17 IFT88 IFT20

GO Terms for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Cellular components related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.08 PKHD1 NEK8 KIF3A KIF17 INVS IFT88
2 centrosome GO:0005813 9.92 PKHD1 NEK8 KIF3A IFT88 IFT20
3 ciliary basal body GO:0036064 9.8 PKHD1 PKD2 KIF17 IFT88 IFT20
4 motile cilium GO:0031514 9.77 PKD2 PKD1 IFT88 IFT20 ARL13B
5 cell projection GO:0042995 9.77 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NEK8
6 axoneme GO:0005930 9.72 KIF3A KIF17 ARL13B
7 ciliary membrane GO:0060170 9.72 PKD2L1 PKD2 PKD1L1 PKD1 ARL13B
8 ciliary tip GO:0097542 9.69 KIF3A IFT88 IFT20
9 ciliary base GO:0097546 9.67 NEK8 IFT88 IFT20
10 calcium channel complex GO:0034704 9.63 PKD2L1 PKD1L1 PKD1
11 intraciliary transport particle B GO:0030992 9.56 IFT88 IFT20
12 cation channel complex GO:0034703 9.56 PKD2L1 PKD2 PKD1L3 PKD1
13 non-motile cilium GO:0097730 9.55 PKD2L1 PKD2 PKD1L1 IFT88 ARL13B
14 ciliary inversin compartment GO:0097543 9.48 NEK8 INVS
15 cilium GO:0005929 9.44 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NEK8
16 polycystin complex GO:0002133 9.43 PKD2 PKD1

Biological processes related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.03 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L1
2 cell projection organization GO:0030030 9.87 KIF3A KIF17 IFT88 IFT20
3 cilium assembly GO:0060271 9.83 PKHD1 KIF3A IFT88 IFT20 ARL13B
4 calcium ion transport GO:0006816 9.77 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1
5 smoothened signaling pathway GO:0007224 9.75 PKD2L1 IFT20 ARL13B
6 determination of left/right symmetry GO:0007368 9.71 PKD2 NEK8 DAND5 ARL13B
7 inner ear receptor cell stereocilium organization GO:0060122 9.65 IFT88 IFT20
8 liver development GO:0001889 9.65 SEC63 PRKCSH PKD2 PKD1 HNF1B
9 protein tetramerization GO:0051262 9.64 PKD2L1 PKD2
10 embryonic placenta development GO:0001892 9.64 PKD2 PKD1
11 inorganic cation transmembrane transport GO:0098662 9.63 PKD2L1 PKD2
12 nitrogen compound metabolic process GO:0006807 9.63 SEC63 PRKCSH PKD1
13 calcium ion transmembrane transport GO:0070588 9.63 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1
14 regulation of autophagosome assembly GO:2000785 9.62 IFT88 IFT20
15 protein heterotetramerization GO:0051290 9.62 PKD2 PKD1
16 intraciliary transport involved in cilium assembly GO:0035735 9.62 KIF3A KIF17 IFT88 IFT20
17 left/right axis specification GO:0070986 9.61 PKD1L1 ARL13B
18 placenta blood vessel development GO:0060674 9.61 PKD2 PKD1
19 genitalia development GO:0048806 9.6 PKD1 HNF1B
20 cellular response to acidic pH GO:0071468 9.59 PKD2L1 PKD1L3
21 cytoplasmic sequestering of transcription factor GO:0042994 9.58 PKD2 PKD1
22 mesonephric tubule development GO:0072164 9.56 PKD2 PKD1
23 sensory perception of sour taste GO:0050915 9.55 PKD2L1 PKD1L3
24 metanephric ascending thin limb development GO:0072218 9.54 PKD2 PKD1
25 mesonephric duct development GO:0072177 9.52 PKD2 PKD1
26 detection of nodal flow GO:0003127 9.51 PKD2 PKD1L1
27 kidney development GO:0001822 9.5 PKHD1 PKD2 PKD1L3 PKD1 IFT88 IFT20
28 cell-cell signaling by wnt GO:0198738 9.49 PKD2 PKD1
29 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.48 PKD2L1 PKD1L3
30 detection of mechanical stimulus GO:0050982 9.1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1

Molecular functions related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.61 PRKCSH PKD2 PKD1
2 cation transmembrane transporter activity GO:0008324 9.4 PKD2L1 PKD1L3
3 alpha-actinin binding GO:0051393 9.37 PKD2L1 PKD2
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.32 KIF3A KIF17
5 muscle alpha-actinin binding GO:0051371 9.26 PKD2L1 PKD2
6 cation channel activity GO:0005261 9.26 PKD2L1 PKD2 PKD1L3 PKD1
7 sour taste receptor activity GO:0033040 9.16 PKD2L1 PKD1L3
8 calcium channel activity GO:0005262 9.1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1

Sources for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

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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