Seroatlas · Human Serome Atlas

PKD2

Polycystin-2

Also known as: Pc-2, PC2, PKD2_HUMAN, PKD4, TRPP2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13563
Gene
PKD2
Ensembl
ENSG00000118762
Chromosome
4
Canonical length
968 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Endoplasmic reticulum,Plasma membrane,Cytosol
Secretome location
Secreted - unknown location
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

968 residues, UniProt reviewed canonical sequence.

>Q13563|PKD2
     1  MVNSSRVQPQ QPGDAKRPPA PRAPDPGRLM AGCAAVGASL AAPGGLCEQR GLEIEMQRIR
    61  QAAARDPPAG AAASPSPPLS SCSRQAWSRD NPGFEAEEEE EEVEGEEGGM VVEMDVEWRP
   121  GSRRSAASSA VSSVGARSRG LGGYHGAGHP SGRRRRREDQ GPPCPSPVGG GDPLHRHLPL
   181  EGQPPRVAWA ERLVRGLRGL WGTRLMEESS TNREKYLKSV LRELVTYLLF LIVLCILTYG
   241  MMSSNVYYYT RMMSQLFLDT PVSKTEKTNF KTLSSMEDFW KFTEGSLLDG LYWKMQPSNQ
   301  TEADNRSFIF YENLLLGVPR IRQLRVRNGS CSIPQDLRDE IKECYDVYSV SSEDRAPFGP
   361  RNGTAWIYTS EKDLNGSSHW GIIATYSGAG YYLDLSRTRE ETAAQVASLK KNVWLDRGTR
   421  ATFIDFSVYN ANINLFCVVR LLVEFPATGG VIPSWQFQPL KLIRYVTTFD FFLAACEIIF
   481  CFFIFYYVVE EILEIRIHKL HYFRSFWNCL DVVIVVLSVV AIGINIYRTS NVEVLLQFLE
   541  DQNTFPNFEH LAYWQIQFNN IAAVTVFFVW IKLFKFINFN RTMSQLSTTM SRCAKDLFGF
   601  AIMFFIIFLA YAQLAYLVFG TQVDDFSTFQ ECIFTQFRII LGDINFAEIE EANRVLGPIY
   661  FTTFVFFMFF ILLNMFLAII NDTYSEVKSD LAQQKAEMEL SDLIRKGYHK ALVKLKLKKN
   721  TVDDISESLR QGGGKLNFDE LRQDLKGKGH TDAEIEAIFT KYDQDGDQEL TEHEHQQMRD
   781  DLEKEREDLD LDHSSLPRPM SSRSFPRSLD DSEEDDDEDS GHSSRRRGSI SSGVSYEEFQ
   841  VLVRRVDRME HSIGSIVSKI DAVIVKLEIM ERAKLKRREV LGRLLDGVAE DERLGRDSEI
   901  HREQMERLVR EELERWESDD AASQISHGLG TPVGLNGQPR PRSSRPSSSQ STEGMEGAGG
   961  NGSSNVHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PKD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.44
Highest tissue expression
107 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 107 nTPM
  • endometrium: 57 nTPM
  • smooth muscle: 50 nTPM
  • kidney: 45 nTPM
  • ovary: 38 nTPM
  • fallopian tube: 38 nTPM

Single-cell type

  • mesothelial cells: 364 nCPM
  • renal collecting duct principal cells: 325 nCPM
  • fibro-adipogenic progenitors: 294 nCPM
  • loop of henle epithelial cells: 285 nCPM
  • oligodendrocytes: 284 nCPM
  • hematopoietic stem cells: 252 nCPM

Immune cell

  • basophil: 1.4 nTPM
  • MAIT T-cell: 0.4 nTPM
  • plasmacytoid DC: 0.4 nTPM
  • NK-cell: 0.3 nTPM
  • eosinophil: 0.2 nTPM
  • gdT-cell: 0.2 nTPM

Brain region

  • white matter: 31 nTPM
  • basal ganglia: 25 nTPM
  • thalamus: 25 nTPM
  • midbrain: 24 nTPM
  • medulla oblongata: 22 nTPM
  • cerebral cortex: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PKD2.

Disease | AllUniProt

Conditions PKD2 is implicated in, by any mechanism.

  • Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) MIM:613095

Disease | GeneticClinVar

435 pathogenic / likely-pathogenic of 1,558 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PKD2 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.5
gnomAD pLI
0
gnomAD missense Z
0.27
DepMap mean gene effect
0.1
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PKD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PKD2 as an antibody target. Whether an autoantibody or antibody against PKD2 could matter depends on whether native PKD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PKD2 is annotated at the cell surface, where native PKD2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PKD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PKD2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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