1. Gene
  2. PKD2 - polycystin 2, transient receptor potential cation channel Gene

PKD2 - polycystin 2, transient receptor potential cation channel Gene

Homo sapiens

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

Gene ID: 5311 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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 Reference
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