PKD2 - polycystin 2, transient receptor potential cation channel Gene

Also Known as PC2; PKD4; Pc-2; APKD2; TRPP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5311

About PKD2

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:88,007,635-88,077,777 (from NCBI)

This gene has 7 transcripts (splice variants), 222 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 27.5), kidney (RPKM 19.2) and 25 other tissues.

Summary

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

PKD2 Products (5)

mRNA Protein Name
XM_011532028.3 XP_011530330.1 polycystin-2 isoform X1
NM_000297.4 NP_000288.1 polycystin-2
XM_011532030.3 XP_011530332.1 polycystin-2 isoform X3
XM_011532029.2 XP_011530331.1 polycystin-2 isoform X2
NR_156488.2
Molecular Function GO Annotation Evidence References Source
enables HLH domain binding IPI
IPI: Inferred from physical interaction
16311606 GOA
enables actinin binding IDA
IDA: Inferred from direct assay
15843396 GOA
contributes to calcium channel activity IDA
IDA: Inferred from direct assay
27214281 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
24990821 GOA
enables calcium-induced calcium release activity IDA
IDA: Inferred from direct assay
11854751 GOA
enables cytoskeletal protein binding IDA
IDA: Inferred from direct assay
10760273 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
19556541 GOA
enables monoatomic cation channel activity IMP
IMP: Inferred from mutant phenotype
29899465 GOA
enables phosphoprotein binding IPI
IPI: Inferred from physical interaction
19801576 GOA
enables potassium channel activity IDA
IDA: Inferred from direct assay
26269590 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9171830 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
9192675 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
16223735 GOA
enables transcription regulator inhibitor activity IPI
IPI: Inferred from physical interaction
16311606 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
10097141 GOA
enables voltage-gated calcium channel activity IDA
IDA: Inferred from direct assay
11252306 GOA
enables voltage-gated monoatomic cation channel activity IDA
IDA: Inferred from direct assay
11252306 GOA
enables voltage-gated monoatomic ion channel activity IDA
IDA: Inferred from direct assay
11854751 GOA
enables voltage-gated potassium channel activity IMP
IMP: Inferred from mutant phenotype
27071085 GOA
enables voltage-gated sodium channel activity IDA
IDA: Inferred from direct assay
11252306 GOA
enables voltage-gated sodium channel activity IMP
IMP: Inferred from mutant phenotype
27071085 GOA
Biological Process GO Annotation Evidence References Source
involved in Wnt signaling pathway IDA
IDA: Inferred from direct assay
27214281 GOA
involved in aorta development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in branching involved in ureteric bud morphogenesis IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
11854751 GOA
involved in calcium ion transport IDA
IDA: Inferred from direct assay
11252306 GOA
involved in cell surface receptor signaling pathway IDA
IDA: Inferred from direct assay
27214281 GOA
involved in cellular response to cAMP IMP
IMP: Inferred from mutant phenotype
26269590 GOA
involved in cellular response to fluid shear stress IMP
IMP: Inferred from mutant phenotype
19265036 GOA
involved in cellular response to hydrostatic pressure IDA
IDA: Inferred from direct assay
16025301 GOA
involved in cellular response to osmotic stress IDA
IDA: Inferred from direct assay
16025301 GOA
acts upstream of or within cilium organization IMP
IMP: Inferred from mutant phenotype
28154160 GOA
involved in determination of liver left/right asymmetry IMP
IMP: Inferred from mutant phenotype
21719175 GOA
involved in heart development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in heart looping IMP
IMP: Inferred from mutant phenotype
21719175 GOA
involved in inorganic cation transmembrane transport IMP
IMP: Inferred from mutant phenotype
29899465 GOA
involved in liver development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in mesonephric duct development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in mesonephric tubule development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric S-shaped body morphogenesis IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric ascending thin limb development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric cortex development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric cortical collecting duct development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric distal tubule development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric mesenchyme development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric part of ureteric bud development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric smooth muscle tissue development IEP
IEP: Inferred from expression pattern
11891195 GOA
acts upstream of negative regulation of G1/S transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
16311606 GOA
involved in neural tube development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IMP
IMP: Inferred from mutant phenotype
16223735 GOA
involved in positive regulation of nitric oxide biosynthetic process IMP
IMP: Inferred from mutant phenotype
19265036 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
16311606 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
9192675 GOA
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
26269590 GOA
involved in potassium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
27071085 GOA
involved in protein heterotetramerization IDA
IDA: Inferred from direct assay
30093605 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
28092368 GOA
involved in protein tetramerization IDA
IDA: Inferred from direct assay
29899465 GOA
involved in regulation of calcium ion import IDA
IDA: Inferred from direct assay
11854751 GOA
involved in regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
15001556 GOA
involved in release of sequestered calcium ion into cytosol IDA
IDA: Inferred from direct assay
11854751 GOA
involved in release of sequestered calcium ion into cytosol IMP
IMP: Inferred from mutant phenotype
19265036 GOA
involved in renal artery morphogenesis IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in sodium ion transmembrane transport IDA
IDA: Inferred from direct assay
11252306 GOA
involved in sodium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
27071085 GOA
involved in spinal cord development IEP
IEP: Inferred from expression pattern
11891195 GOA
Cellular Component GO Annotation Evidence References Source
located in basal cortex IDA
IDA: Inferred from direct assay
10770959 GOA
located in basal plasma membrane IDA
IDA: Inferred from direct assay
10770959 GOA
part of cation channel complex IDA
IDA: Inferred from direct assay
30093605 GOA
located in ciliary basal body IDA
IDA: Inferred from direct assay
15337773 GOA
located in cilium IDA
IDA: Inferred from direct assay
28154160 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
10770959 GOA
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
16311606 GOA
located in cytoplasmic side of endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
21044049 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
10760273 GOA
located in endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
16223735 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
11854751 GOA
located in extracellular exosome IDA
IDA: Inferred from direct assay
37681898 GOA
located in lamellipodium IDA
IDA: Inferred from direct assay
10760273 GOA
located in lumenal side of endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
21044049 GOA
located in membrane IDA
IDA: Inferred from direct assay
30093605 GOA
located in migrasome IDA
IDA: Inferred from direct assay
37681898 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
15123714 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15692563 GOA
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
27071085 GOA
part of polycystin complex IPI
IPI: Inferred from physical interaction
11901144 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKD2 Protein Structure

PKD_channel

PKD_channel: Polycystin cation channel (268 - 687)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 968 a.a.
Protein Preferred Names Protein Names

polycystin-2

  • autosomal dominant polycystic kidney disease type II protein

  • polycystic kidney disease 2 (autosomal dominant)

  • transient receptor potential cation channel subfamily P member 2

PKD2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
PKD2 Q13563 Trpc3 Mus musculus Q9QZC1 19812035
Intra
PKD2 Q13563 KRT40 Homo sapiens Q6A162 25416956
Intra
PKD2 Q13563 MAGEA8 Homo sapiens P43361 25416956
Intra
PKD2 Q13563 MAGEA8 Homo sapiens P43361 29892012
Intra
PKD2 Q13563 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
PKD2 Q13563 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
PKD2 Q13563 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
PKD2 Q13563 PKD1 Homo sapiens P98161
NMR
20168298
Intra
PKD2 Q13563 PKD1 Homo sapiens P98161 20168298
Intra
PKD2 Q13563 PKD1 Homo sapiens P98161 20168298
Intra
PKD2 Q13563 PKD1 Homo sapiens P98161
Y2H
20168298
Intra
PKD2 Q13563 PKD1 Homo sapiens P98161-1
GMS
30093605
Intra
PKD2 Q13563 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
PKD2 Q13563 CYSRT1 Homo sapiens A8MQ03 32296183
Cross
PKD2 Q13563 Hax1 Mus musculus O35387 10760273
Cross
PKD2 Q13563 Hax1 Mus musculus O35387
Y2H
10760273
Cross
PKD2 Q13563 Trpv4 Mus musculus Q9EPK8 25114176
Cross
PKD2 Q13563 Trpv4 Mus musculus Q9EPK8 25114176
Intra
PKD2 Q13563 HSF2BP Homo sapiens O75031 32296183
Intra
PKD2 Q13563 HSF2BP Homo sapiens O75031 32296183
Intra
PKD2 Q13563 ID2 Homo sapiens Q02363
Y2H
16311606
Intra
PKD2 Q13563 ID2 Homo sapiens Q02363 16311606
Intra
PKD2 Q13563 ID2 Homo sapiens Q02363 16311606
Intra
PKD2 Q13563 MDFI Homo sapiens Q99750 32296183
Intra
PKD2 Q13563 MDFI Homo sapiens Q99750 32296183
Intra
PKD2 Q13563 MDFI Homo sapiens Q99750 32296183
Intra
PKD2 Q13563 PLSCR1 Homo sapiens O15162 25416956
Intra
PKD2 Q13563 TRPC1 Homo sapiens P48995 25114176
Intra
PKD2 Q13563 TRPC1 Homo sapiens P48995 25114176
Intra
PKD2 Q13563 TRPC1 Homo sapiens P48995 10097141
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563
Y2H
20168298
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 20168298
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 20168298
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563
GMS
27768895
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 27768895
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 20168298
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 20168298
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 20168298
Intra
PKD2 Q13563 PKD2 Homo sapiens Q13563 28092368
Intra
PKD2 Q13563 TRPC1 Homo sapiens P48995-2 10097141
Intra
PKD2 Q13563 TRPC1 Homo sapiens P48995-2 10097141
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nephronophthisis 3
  • NPHP3

  • Nph3

  • Adolescent Nephronophthisis

  • Nephronophthisis, Type 3

Visceral Heterotaxy
  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
  • PKD3

  • Polycystic Kidney Disease, Adult, Type Iii

  • Apkd3

  • Polycystic Kidney Disease 3

  • Polycystic Kidney Disease, Type 3

  • Polycystic Kidney Disease 3 Without Polycystic Liver Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Orthostatic Intolerance
  • Mitral Valve Prolapse

  • Neurocirculatory Asthenia

  • Mitral Valve Prolapse Syndrome

  • Irritable Heart

  • Systolic Click-Murmur Syndrome

  • Soldiers Heart

  • Cardiovascular Malfunction Arising From Mental Factors

  • Cardiovascular Neurosis

  • Da Costa'S Syndrome

  • Krishaber'S Disease

  • Barlow'S Syndrome

  • Floppy Mitral Valve

  • Mitral Leaflet Syndrome

  • Myxomatous Mitral Valve Prolapse

  • Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

  • Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

  • Orthostatic Intolerance Due To Net Deficiency

  • Pots Due To Net Deficiency

  • OI

  • Intolerance, Orthostatic

  • Mitral Valve Prolapse, Familial, X-Linked

  • Ballooning Mitral Valve

  • Barlow Syndrome

  • Flail Mitral Leaflet

  • Myxomatous Mitral Valve

  • Mitral Valve Prolapse-Click Syndrome

  • Prolapsing Mitral Valve Leaflet Syndrome

  • Billowing Mitral Valve Leaflet

  • Posterior Mitral Leaflet Deformity

  • Ballooning Posterior Leaflet Syndrome

  • Blue Valve Syndrome

  • Floppy Mitral Valve Syndrome

  • Mitral Valvular Prolapse

  • Systolic Click Syndrome

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
  • Autosomal Recessive Polycystic Kidney Disease

  • Arpkd

  • Polycystic Kidney Disease, Autosomal Recessive

  • Polycystic Kidney And Hepatic Disease 1

  • Pkhd1

  • PKD4

  • Polycystic Kidney Disease 4 With Or Without Hepatic Disease

  • Polycystic Kidney Disease, Infantile, Type I

  • Polycystic Kidney Disease, Infantile Type

  • Polycystic Kidney, Autosomal Recessive

  • Pkd3, Formerly

  • Polycystic Kidney Disease 4, With Or Without Hepatic Disease

  • Arpkd/Chf

  • Ar-Pkd

  • Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

  • Infantile Polycystic Kidney Disease Type I

  • Pkd3

  • Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Parastremmatic Dwarfism
  • Parastremmatic Dysplasia

  • PSTD

  • Dwarfism, Parastremmatic

Polycystic Liver Disease
  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

End Stage Renal Disease
  • End Stage Renal Failure

  • End-Stage Kidney Disease

  • Kidney Failure, Chronic

  • Chronic Kidney Disease Stage 5

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 2

  • PKD2

  • Polycystic Kidney Disease, Adult, Type Ii

  • Apkd2

  • Polycystic Kidney Disease, Type 2

  • Adpkd2

  • Adult Polycystic Kidney Disease Type 2

  • Autosomal Dominant Polycystic Kidney Disease 2

  • Pkd-2

  • Polycystic Kidney Disease Adult Type Ii

  • Polycystic Kidney Type 2 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 2

Kartagener Syndrome
  • Kartagener'S Syndrome

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Syndactyly, Type I

  • Sd1

  • Zygodactyly

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Non-Syndromic Syndactyly

  • Symphalangism

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Caroli Disease
  • Caroli Disease Isolated

  • Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts

  • Cystic Dilatation Of The Intrahepatic Biliary Tree

  • Caroli Syndrome

  • Carolis Disease

Polycystic Liver Disease 1 With Or Without Kidney Cysts
  • Polycystic Liver Disease 1

  • PCLD1

  • Liver Disease, Polycystic, Type 1

  • Polycystic Liver Disease

  • Cyst

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Meckel Syndrome, Type 1
  • Meckel Syndrome

  • Meckel-Gruber Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Multicystic Dysplastic Kidney
  • Multicystic Renal Dysplasia

  • Multicystic Kidney Dysplasia

  • Mcdk

  • Multiple Congenital Cysts Of Kidney

  • Developmental Multicystic Kidney

Cerebral Cavernous Malformations
  • Cerebral Cavernous Malformation

  • Cavernous Malformations Of Cns And Retina

  • Cerebral Cavernous Malformation 1

  • Cavernous Angiomatous Malformations

  • Cerebral Capillary Malformations

  • CCM

  • Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

  • Familial Cavernous Angioma

  • Familial Cerebral Cavernous Malformation

  • Cerebral Cavernous Malformations 1

  • Cavernous Angioma, Familial

  • Cam

  • Cerebral Cavernous Malformations-1

  • Cavernoma

  • Cavernous Angioma

  • Central Nervous System Cavernous Hemangioma

  • Cerebral Cavernous Hemangioma

  • Familial Cavernous Hemangioma

  • Familial Cavernous Malformation

  • Familial Cerebral Cavernous Angioma

  • Intracerebral Cavernous Hemangioma

  • CCM1

  • Cavernous Hemangioma Of The Brain

  • Cerebral Cavernoma

  • Cerebral Cavernous Malformations, Type 1

  • Hemangioma, Cavernous, Central Nervous System

  • Hemangioma, Cavernous

  • Angioma, Cavernous

Situs Inversus
  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a
  • Multiple Pterygium Syndrome, Autosomal Dominant

  • CPSFS1A

  • Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

  • Autosomal Dominant Disease

  • Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

  • Cpskf1a

  • Pterygium Syndrome, Multiple

  • Autosomal Dominant

  • Arthrogryposis, Distal, Type 8, Formerly

  • Da8, Formerly

  • Autosomal Dominant Multiple Pterygium Syndrome

  • Distal Arthrogryposis Type 8

  • Arthrogryposis, Distal, Type 8

  • Da8

  • Pterygium Syndrome, Multiple, Autosomal Dominant

  • Autosomal Dominant Disorder

Autosomal Genetic Disease
  • Autosomal Hereditary Disorder

Cranioectodermal Dysplasia
  • Sensenbrenner Syndrome

  • Levin Syndrome 1

  • Ced

  • Levin Syndrome

  • Dysplasia, Cranioectodermal

Prostatic Cyst
  • Cyst Of Prostate

Asphyxiating Thoracic Dystrophy
  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy

Gout
  • Gouty Arthritis

  • Articular Gout

  • Gouty Arthropathy

  • Arthritis, Gouty

  • Arthritis Gouty

  • Idiopathic Gout

  • Idiopathic Gout, Unspecified Site

  • Gouty Bursitis

  • Uratic Arthritis

  • Gout Nos

  • Gouty

  • Gouty Diathesis

Liver Disease
  • Liver Failure

  • Liver Diseases

  • Abnormality Of The Liver

  • Liver Dysfunction

  • Disorder Of Liver

  • Hepatic Disorder

  • Hepatic Disease

  • Disease Of Bilirubin Metabolism

  • Disorder Of Bilirubin Metabolism

  • Liver Decompensation

  • Liver Function Failure

  • Hepatic Failure Nos

  • Liver Failure Nos

  • End Stage Liver Disease

  • Decompensated Liver Failure

  • Decompensation Of Liver Function

  • Hepatic Decompensation

  • Hepatic Insufficiency

  • Liver Cell Necrosis With Hepatic Failure

  • Liver Insufficiency

  • Decompensated Liver Disease

  • End Stage Liver Failure

  • Liver Necrosis With Hepatic Failure

Septal Myocardial Infarction
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases

Mucolipidosis Iv
  • Mucolipidosis Type Iv

  • ML4

  • Sialolipidosis

  • Mucolipidosis Type 4

  • Ganglioside Sialidase Deficiency

  • Mliv

  • Ml Iv

  • Berman Syndrome

  • Ganglioside Neuraminidase Deficiency

  • Ml 4

  • Mucolipidosis 4

  • Type Iv Mucolipidosis

  • Gangliosidoses

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Cerebral Arterial Disease
  • Cerebral Arterial Diseases

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PKD2 RGD RGD:1559992
Macaca mulatta PKD2 VGNC VGNC:100262
Canis familiaris PKD2 VGNC VGNC:44600
Felis catus PKD2 VGNC VGNC:68871
Bos taurus PKD2 VGNC VGNC:32935
Mus musculus PKD2 MGD MGI:1099818
Others PKD2 NCBI