TMC6
Transmembrane channel-like protein 6
Also known as: EVER1, EVIN1, LAK-4P, TMC6_HUMAN, TNRC6C-AS1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z403
- Gene
- TMC6
- Ensembl
- ENSG00000141524
- Chromosome
- 17
- Canonical length
- 805 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
805 residues, UniProt reviewed canonical sequence.
>Q7Z403|TMC6
1 MAQPLAFILD VPETPGDQGQ GPSPYDESEV HDSFQQLIQE QSQCTAQEGL ELQQREREVT
61 GSSQQTLWRP EGTQSTATLR ILASMPSRTI GRSRGAIISQ YYNRTVQLRC RSSRPLLGNF
121 VRSAWPSLRL YDLELDPTAL EEEEKQSLLV KELQSLAVAQ RDHMLRGMPL SLAEKRSLRE
181 KSRTPRGKWR GQPGSGGVCS CCGRLRYACV LALHSLGLAL LSALQALMPW RYALKRIGGQ
241 FGSSVLSYFL FLKTLLAFNA LLLLLLVAFI MGPQVAFPPA LPGPAPVCTG LELLTGAGCF
301 THTVMYYGHY SNATLNQPCG SPLDGSQCTP RVGGLPYNMP LAYLSTVGVS FFITCITLVY
361 SMAHSFGESY RVGSTSGIHA ITVFCSWDYK VTQKRASRLQ QDNIRTRLKE LLAEWQLRHS
421 PRSVCGRLRQ AAVLGLVWLL CLGTALGCAV AVHVFSEFMI QSPEAAGQEA VLLVLPLVVG
481 LLNLGAPYLC RVLAALEPHD SPVLEVYVAI CRNLILKLAI LGTLCYHWLG RRVGVLQGQC
541 WEDFVGQELY RFLVMDFVLM LLDTLFGELV WRIISEKKLK RRRKPEFDIA RNVLELIYGQ
601 TLTWLGVLFS PLLPAVQIIK LLLVFYVKKT SLLANCQAPR RPWLASHMST VFLTLLCFPA
661 FLGAAVFLCY AVWQVKPSST CGPFRTLDTM YEAGRVWVRH LEAAGPRVSW LPWVHRYLME
721 NTFFVFLVSA LLLAVIYLNI QVVRGQRKVI CLLKEQISNE GEDKIFLINK LHSIYERKER
781 EERSRVGTTE EAAAPPALLT DEQDALocalizationUniProt · AlphaFold · HPA
Whether an antibody against TMC6 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 10
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 72 nTPM
Expression across tissuesHPA
Tissue
- spleen: 72 nTPM
- spinal cord: 51 nTPM
- lymph node: 34 nTPM
- small intestine: 31 nTPM
- bone marrow: 28 nTPM
- midbrain: 28 nTPM
Single-cell type
- kupffer cells: 157 nCPM
- oligodendrocytes: 104 nCPM
- b-cells: 102 nCPM
- hofbauer cells: 99 nCPM
- breast lactating cells: 98 nCPM
- t-cells: 95 nCPM
Immune cell
- non-classical monocyte: 42 nTPM
- gdT-cell: 40 nTPM
- MAIT T-cell: 34 nTPM
- memory CD8 T-cell: 31 nTPM
- memory CD4 T-cell: 29 nTPM
- intermediate monocyte: 27 nTPM
Brain region
- white matter: 77 nTPM
- medulla oblongata: 71 nTPM
- midbrain: 54 nTPM
- basal ganglia: 52 nTPM
- cerebellum: 51 nTPM
- pons: 49 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TMC6.
Disease | AllUniProt
Conditions TMC6 is implicated in, by any mechanism.
- Epidermodysplasia verruciformis 1 (EV1) MIM:226400
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 899 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.75
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.23
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 TMC6 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 TMC6 as an antibody target. Whether an autoantibody or antibody against TMC6 could matter depends on whether native TMC6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TMC6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TMC6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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