Seroatlas · Human Serome Atlas

TMEM63C

Osmosensitive cation channel TMEM63C

Also known as: C14orf171, CSC1, DKFZp434P0111, hsCSC1, TM63C_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9P1W3
Gene
TMEM63C
Ensembl
ENSG00000165548
Chromosome
14
Canonical length
806 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Centrosome

OverviewNCBI Gene

Enables calcium-activated cation channel activity. Involved in monoatomic cation transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Implicated in hereditary spastic paraplegia 87. Biomarker of focal segmental glomerulosclerosis. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

806 residues, UniProt reviewed canonical sequence.

>Q9P1W3|TMEM63C
     1  MSASPDDLST GGRLQNMTVD ECFQSRNTVL QGQPFGGVPT VLCLNIALWV LVLVVYSFLR
    61  KAAWDYGRLA LLIHNDSLTS LIYGEQSEKT SPSETSLEME RRDKGFCSWF FNSITMKDED
   121  LINKCGDDAR IYIVFQYHLI IFVLIICIPS LGIILPINYT GSVLDWSSHF ARTTIVNVST
   181  ESKLLWLHSL LSFFYFITNF MFMAHHCLGF APRNSQKVTR TLMITYVPKD IEDPELIIKH
   241  FHEAYPGSVV TRVHFCYDVR NLIDLDDQRR HAMRGRLFYT AKAKKTGKVM IRIHPCARLC
   301  FCKCWTCFKE VDAEQYYSEL EEQLTDEFNA ELNRVPLKRL DLIFVTFQDS RMAKRVRKDY
   361  KYVQCGVQPQ QSSVTTIVKS YYWRVTMAPH PKDIIWKHLS VRRFFWWARF IAINTFLFFL
   421  FFFLTTPAII MNTIDMYNVT RPIEKLQNPI VTQFFPSVML WGFTVILPLI VYFSAFLEAH
   481  WTRSSQNLVM VHKCYIFLVF MVVILPSMGL TSLDVFLRWL FDIYYLEQAS IRFQCVFLPD
   541  NGAFFVNYVI TAALLGTGME LLRLGSLFCY STRLFFSRSE PERVNIRKNQ AIDFQFGREY
   601  AWMMNVFSVV MAYSITCPII VPFGLLYLCM KHLTDRYNMY YSFAPTKLNE QIHMAAVSQA
   661  IFAPLLGLFW MLFFSILRLG SLHAITIFSL STLLIAMVIA FVGIFLGKLR MVADYEPEEE
   721  EIQTVFDMEP SSTSSTPTSL LYVATVLQEP ELNLTPASSP ARHTYGTMNN QPEEGEEESG
   781  LRGFARELDS AQFQEGLELE GQNQYH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM63C 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)
0.31
Highest tissue expression
54 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 54 nTPM
  • pituitary gland: 40 nTPM
  • hypothalamus: 16 nTPM
  • cerebral cortex: 14 nTPM
  • testis: 11 nTPM
  • basal ganglia: 10 nTPM

Single-cell type

  • lactotrophs: 38 nCPM
  • gonadotrophs: 38 nCPM
  • thyrotrophs: 35 nCPM
  • retinal ganglion cells: 35 nCPM
  • somatotrophs: 28 nCPM
  • corticotrophs: 27 nCPM

Immune cell

  • neutrophil: 0.3 nTPM
  • NK-cell: 0.3 nTPM
  • non-classical monocyte: 0.3 nTPM
  • eosinophil: 0.1 nTPM
  • memory CD8 T-cell: 0.1 nTPM
  • myeloid DC: 0.1 nTPM

Brain region

  • cerebellum: 86 nTPM
  • hypothalamus: 79 nTPM
  • pons: 64 nTPM
  • cerebral cortex: 48 nTPM
  • basal ganglia: 46 nTPM
  • midbrain: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM63C.

Disease | AllUniProt

Conditions TMEM63C is implicated in, by any mechanism.

  • Spastic paraplegia 87, autosomal recessive (SPG87) MIM:619966

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spastic paraplegia 87, autosomal recessive

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)
0.4
gnomAD pLI
0.24
gnomAD missense Z
2.07
DepMap mean gene effect
-0.05
DepMap dependency class
selective

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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM63C as an antibody target. Whether an autoantibody or antibody against TMEM63C could matter depends on whether native TMEM63C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM63C is annotated at the cell surface, where native TMEM63C 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 TMEM63C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM63C. 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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