TMEM63B
Mechanosensitive cation channel TMEM63B
Also known as: C6orf110, dJ421H19.2, DKFZp434P0531, TM63B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5T3F8
- Gene
- TMEM63B
- Ensembl
- ENSG00000137216
- Chromosome
- 6
- Canonical length
- 832 aa
- Protein class
- Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane,Actin filaments
OverviewNCBI Gene
Enables mechanosensitive monoatomic cation channel activity. Predicted to be involved in sensory perception of sound and surfactant secretion. Located in actin cytoskeleton; cytoplasmic vesicle membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]
Canonical amino-acid sequenceUniProt
832 residues, UniProt reviewed canonical sequence.
>Q5T3F8|TMEM63B
1 MLPFLLATLG TTALNNSNPK DYCYSARIRS TVLQGLPFGG VPTVLALDFM CFLALLFLFS
61 ILRKVAWDYG RLALVTDADR LRRQERDRVE QEYVASAMHG DSHDRYERLT SVSSSVDFDQ
121 RDNGFCSWLT AIFRIKDDEI RDKCGGDAVH YLSFQRHIIG LLVVVGVLSV GIVLPVNFSG
181 DLLENNAYSF GRTTIANLKS GNNLLWLHTS FAFLYLLLTV YSMRRHTSKM RYKEDDLVKR
241 TLFINGISKY AESEKIKKHF EEAYPNCTVL EARPCYNVAR LMFLDAERKK AERGKLYFTN
301 LQSKENVPTM INPKPCGHLC CCVVRGCEQV EAIEYYTKLE QKLKEDYKRE KEKVNEKPLG
361 MAFVTFHNET ITAIILKDFN VCKCQGCTCR GEPRPSSCSE SLHISNWTVS YAPDPQNIYW
421 EHLSIRGFIW WLRCLVINVV LFILLFFLTT PAIIITTMDK FNVTKPVEYL NNPIITQFFP
481 TLLLWCFSAL LPTIVYYSAF FEAHWTRSGE NRTTMHKCYT FLIFMVLLLP SLGLSSLDLF
541 FRWLFDKKFL AEAAIRFECV FLPDNGAFFV NYVIASAFIG NAMDLLRIPG LLMYMIRLCL
601 ARSAAERRNV KRHQAYEFQF GAAYAWMMCV FTVVMTYSIT CPIIVPFGLM YMLLKHLVDR
661 YNLYYAYLPA KLDKKIHSGA VNQVVAAPIL CLFWLLFFST MRTGFLAPTS MFTFVVLVIT
721 IVICLCHVCF GHFKYLSAHN YKIEHTETDT VDPRSNGRPP TAAAVPKSAK YIAQVLQDSE
781 VDGDGDGAPG SSGDEPPSSS SQDEELLMPP DALTDTDFQS CEDSLIENEI HQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TMEM63B 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)
- 0.32
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 46 nTPM
- skin: 37 nTPM
- liver: 37 nTPM
- lung: 36 nTPM
- cerebellum: 31 nTPM
- esophagus: 31 nTPM
Single-cell type
- alveolar cells type 1: 154 nCPM
- late spermatids: 142 nCPM
- alveolar cells type 2: 115 nCPM
- foveolar cells: 109 nCPM
- transitional alveolar cells: 104 nCPM
- esophageal apical cells: 100 nCPM
Immune cell
- classical monocyte: 0.4 nTPM
- MAIT T-cell: 0.4 nTPM
- T-reg: 0.4 nTPM
- neutrophil: 0.3 nTPM
- basophil: 0.2 nTPM
- eosinophil: 0.2 nTPM
Brain region
- hippocampal formation: 52 nTPM
- cerebral cortex: 50 nTPM
- hypothalamus: 43 nTPM
- pons: 42 nTPM
- thalamus: 41 nTPM
- medulla oblongata: 40 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TMEM63B.
Disease | AllUniProt
Conditions TMEM63B is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 118 (DEE118) MIM:621250
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 149 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy 118
- Inborn genetic diseases
- Rare epilepsy
- TMEM63B-associated disorder
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)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.22
- DepMap mean gene effect
- -0.06
- 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
- drinking behavior
- exocytosis
- intestinal stem cell homeostasis
- sensory perception of sound
- surfactant secretion
Molecular functions
- calcium-activated cation channel activity
- mechanosensitive monoatomic cation channel activity
- mechanosensitive monoatomic ion channel activity
- osmolarity-sensing monoatomic cation channel activity
- phosphatidylcholine transfer activity
- phospholipid scramblase activity
- sphingomyelin transfer activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CSC1/OSCA1-like, 7TM region
- CSC1/OSCA1-like, cytosolic domain
- CSC1/OSCA1-like, N-terminal transmembrane domain
- Calcium permeable stress-gated cation channel 1-like
- Calcium-dependent channel, 7TM region, putative phosphate
- Late exocytosis, associated with Golgi transport
- Cytosolic domain of 10TM putative phosphate transporter
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TMEM63B 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 TMEM63B as an antibody target. Whether an autoantibody or antibody against TMEM63B could matter depends on whether native TMEM63B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TMEM63B is annotated at the cell surface, where native TMEM63B 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 TMEM63B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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