PKD2

GENERAL INFORMATION

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Gene name

PKD2

Gene description

Polycystic kidney disease 2 (autosomal dominant)

Protein class

Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues at variable levels. Highest expression in renal tubules, urothelium, fallopian tube and in respiratory epithelia.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA015794 , CAB004544
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PKD2 (HGNC Symbol)

Synonyms

Pc-2, PC2, PKD4, TRPP2

Description

Polycystic kidney disease 2 (autosomal dominant) (HGNC Symbol)

Entrez gene 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]

Chromosome

4

Cytoband

q22.1

Chromosome location (bp)

88007668 - 88077777

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000118762 (version 78.38)

Entrez gene

5311

UniProt

Q13563 (UniProt - Evidence at protein level)

neXtProt

NX_Q13563

Antibodypedia

PKD2 antibodies


PROTEIN BROWSER

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ENST00000237596
 
ENST00000502363
 
ENST00000508588
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PKD2-001 ENSP00000237596
ENST00000237596
Q13563
Show all »
Show » Show » 968 109.7 No 7
PKD2-002 ENSP00000427131
ENST00000508588
B4DFN3
Show all »
Show » Show » 386 43.9 No 2
PKD2-005 ENSP00000425289
ENST00000502363
B4DFN3
Show all »
Show » Show » 386 43.9 No 2