Seroatlas · Human Serome Atlas

TMEM63A

Mechanosensitive cation channel TMEM63A

Also known as: KIAA0792, TM63A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O94886
Gene
TMEM63A
Ensembl
ENSG00000196187
Chromosome
1
Canonical length
807 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles,Centriolar satellite

OverviewNCBI Gene

Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

807 residues, UniProt reviewed canonical sequence.

>O94886|TMEM63A
     1  MMDSPFLELW QSKAVSIREQ LGLGDRPNDS YCYNSAKNST VLQGVTFGGI PTVLLIDVSC
    61  FLFLILVFSI IRRRFWDYGR IALVSEADSE SRFQRLSSTS SSGQQDFENE LGCCPWLTAI
   121  FRLHDDQILE WCGEDAIHYL SFQRHIIFLL VVVSFLSLCV ILPVNLSGDL LDKDPYSFGR
   181  TTIANLQTDN DLLWLHTIFA VIYLFLTVGF MRHHTQSIKY KEENLVRRTL FITGLPRDAR
   241  KETVESHFRD AYPTCEVVDV QLCYNVAKLI YLCKEKKKTE KSLTYYTNLQ VKTGQRTLIN
   301  PKPCGQFCCC EVLGCEWEDA ISYYTRMKDR LLERITEEER HVQDQPLGMA FVTFQEKSMA
   361  TYILKDFNAC KCQSLQCKGE PQPSSHSREL YTSKWTVTFA ADPEDICWKN LSIQGLRWWL
   421  QWLGINFTLF LGLFFLTTPS IILSTMDKFN VTKPIHALNN PIISQFFPTL LLWSFSALLP
   481  SIVYYSTLLE SHWTKSGENQ IMMTKVYIFL IFMVLILPSL GLTSLDFFFR WLFDKTSSEA
   541  SIRLECVFLP DQGAFFVNYV IASAFIGNGM ELLRLPGLIL YTFRMIMAKT AADRRNVKQN
   601  QAFQYEFGAM YAWMLCVFTV IVAYSITCPI IAPFGLIYIL LKHMVDRHNL YFVYLPAKLE
   661  KGIHFAAVNQ ALAAPILCLF WLYFFSFLRL GMKAPATLFT FLVLLLTILV CLAHTCFGCF
   721  KHLSPLNYKT EEPASDKGSE AEAHMPPPFT PYVPRILNGL ASERTALSPQ QQQQQTYGAI
   781  HNISGTIPGQ CLAQSATGSV AAAPQEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM63A 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
11
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
153 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 153 nTPM
  • salivary gland: 114 nTPM
  • midbrain: 73 nTPM
  • hippocampal formation: 57 nTPM
  • prostate: 55 nTPM
  • pancreas: 54 nTPM

Single-cell type

  • tuft cells: 311 nCPM
  • oligodendrocytes: 229 nCPM
  • lacrimal acinar cells: 190 nCPM
  • neutrophil progenitors: 158 nCPM
  • proximal tubule cells: 129 nCPM
  • prostatic glandular cells: 122 nCPM

Immune cell

  • T-reg: 20 nTPM
  • memory CD4 T-cell: 13 nTPM
  • naive CD4 T-cell: 12 nTPM
  • plasmacytoid DC: 12 nTPM
  • MAIT T-cell: 11 nTPM
  • gdT-cell: 10 nTPM

Brain region

  • white matter: 753 nTPM
  • medulla oblongata: 437 nTPM
  • basal ganglia: 360 nTPM
  • pons: 335 nTPM
  • cerebral cortex: 310 nTPM
  • thalamus: 298 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM63A.

Disease | AllUniProt

Conditions TMEM63A is implicated in, by any mechanism.

  • Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) MIM:618688

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 223 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Leukodystrophy, hypomyelinating, 19, transient infantile
  • Leukodystrophy

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)
0.83
gnomAD pLI
0
gnomAD missense Z
1.24
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM63A as an antibody target. Whether an autoantibody or antibody against TMEM63A could matter depends on whether native TMEM63A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM63A is annotated at the cell surface, where native TMEM63A 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 TMEM63A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM63A. 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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