Seroatlas · Human Serome Atlas

TRPV5

Transient receptor potential cation channel subfamily V member 5

Also known as: CaT2, ECAC1, TRPV5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NQA5
Gene: TRPV5
Ensembl: ENSG00000127412
Chromosome: 7
Canonical length: 729 aa
Protein class: Predicted membrane proteins, Transporters, Voltage-gated ion channels
Quaternary structure: Homotetramer

OverviewNCBI Gene

This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

729 residues, UniProt reviewed canonical sequence.

>Q9NQA5|TRPV5
     1  MGGFLPKAEG PGSQLQKLLP SFLVREQDWD QHLDKLHMLQ QKRILESPLL RASKENDLSV
    61  LRQLLLDCTC DVRQRGALGE TALHIAALYD NLEAALVLME AAPELVFEPT TCEAFAGQTA
   121  LHIAVVNQNV NLVRALLTRR ASVSARATGT AFRHSPRNLI YFGEHPLSFA ACVNSEEIVR
   181  LLIEHGADIR AQDSLGNTVL HILILQPNKT FACQMYNLLL SYDGHGDHLQ PLDLVPNHQG
   241  LTPFKLAGVE GNTVMFQHLM QKRRHIQWTY GPLTSILYDL TEIDSWGEEL SFLELVVSSD
   301  KREARQILEQ TPVKELVSFK WNKYGRPYFC ILAALYLLYM ICFTTCCVYR PLKFRGGNRT
   361  HSRDITILQQ KLLQEAYETR EDIIRLVGEL VSIVGAVIIL LLEIPDIFRV GASRYFGKTI
   421  LGGPFHVIII TYASLVLVTM VMRLTNTNGE VVPMSFALVL GWCSVMYFTR GFQMLGPFTI
   481  MIQKMIFGDL MRFCWLMAVV ILGFASAFYI IFQTEDPTSL GQFYDYPMAL FTTFELFLTV
   541  IDAPANYDVD LPFMFSIVNF AFTIIATLLM LNLFIAMMGD THWRVAQERD ELWRAQVVAT
   601  TVMLERKLPR CLWPRSGICG CEFGLGDRWF LRVENHNDQN PLRVLRYVEV FKNSDKEDDQ
   661  EHPSEKQPSG AESGTLARAS LALPTSSLSR TASQSSSHRG WEILRQNTLG HLNLGLNLSE
   721  GDGEEVYHF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPV5 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): 0.33
Highest tissue expression: 4 nTPM

Expression across tissuesHPA

Tissue

kidney: 4 nTPM
spinal cord: 1.6 nTPM
midbrain: 0.8 nTPM
hippocampal formation: 0.5 nTPM
amygdala: 0.4 nTPM
basal ganglia: 0.4 nTPM

Single-cell type

renal connecting tubule cells: 155 nCPM
distal convoluted tubule cells: 26 nCPM
oligodendrocytes: 15 nCPM
renal collecting duct principal cells: 11 nCPM
renal collecting duct intercalated cells: 2 nCPM
papillary tip epithelial cells: 1.3 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

thalamus: 0.7 nTPM
white matter: 0.7 nTPM
medulla oblongata: 0.5 nTPM
amygdala: 0.4 nTPM
cerebral cortex: 0.4 nTPM
choroid plexus: 0.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPV5.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Renal Calcium Wasting Hypercalciuria

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): 0.97
gnomAD pLI: 0
gnomAD missense Z: -0.19
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Ankyrin repeat
Ion transport domain
Transient receptor potential cation channel subfamily V member 5/6
Transient receptor potential cation channel subfamily V
Ankyrin repeat-containing domain superfamily
Ankyrin repeat
Ion transport protein
Ankyrin repeats (3 copies)
Transient receptor potential cation channel subfamily V member 5

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TRPV5 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 TRPV5 as an antibody target. Whether an autoantibody or antibody against TRPV5 could matter depends on whether native TRPV5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRPV5 is annotated at the cell surface, where native TRPV5 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 TRPV5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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