TMC6 (transmembrane channel like 6)

Gene

• Entrez ID: 11322
• Gene name: Transmembrane channel like 6
• Gene symbol: TMC6
• Synonyms (NCBI Gene): EV1, EVER1, EVIN1, LAK-4P, TNRC6C-AS1, lnc
• Disease Acronyms (UniProt): EV1
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908327	G>A	Risk-factor	5 prime UTR variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs121908328	C>A,T	Risk-factor	Intron variant, stop gained, coding sequence variant, non coding transcript variant, missense variant
rs121908329	G>T	Risk-factor	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs754288317	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs769471844	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1555655146	->A	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs1567989416	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1567997496	TGAATGGATGGATGAGTGGAGCTCGGAGCCTGGGTCATGAGGTGGAGGCATTACCTGTACACCAGGGTGATGCAGGTGATAAAGAAGCTCACGCCCACAGTGGAGAGGTAGGCCAGGGGCATGTTGTAGGGCAGGCCACCCACCCTGGGTGTGCACTGGCTGCCATCCAGGGGGCTGCCACACGGCTGGTTCAGCGTGGCGTTACTGTAGTGGCCGTAGTACATGACGGTGTGGGTGAAGCAACCCTGCCACAGG	Pathogenic	5 prime UTR variant, initiator codon variant, coding sequence variant, splice donor variant, splice acceptor variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017951	hsa-miR-335-5p	Microarray	18185580
MIRT044869	hsa-miR-195-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18158319, 30068544, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IDA	12426567
GO:0005783	Component	Endoplasmic reticulum	IDA	12426567, 18158319
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18158319
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0008150	Process	Biological_process	ND
GO:0008381	Function	Mechanosensitive ion channel activity	IBA	21873635
GO:0031965	Component	Nuclear membrane	IDA	18158319
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070821	Component	Tertiary granule membrane	TAS

Other IDs

• MIM: 605828
• HGNC: 18021
• e!Ensembl: ENSG00000141524

Protein

• UniProt ID: Q7Z403
• Protein name: Transmembrane channel-like protein 6 (Epidermodysplasia verruciformis protein 1) (Protein LAK-4)
• Protein function: Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:30068544, PubMed:32917726). Together with its homolog TMC8/EVER2, forms a complex with CIB1 in lymphocytes and keratynocytes where TM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07810	TMC	540 → 646	TMC domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes. {ECO:0000269|PubMed:12906855, ECO:0000269|Ref.3}.
• Sequence:

  MAQPLAFILDVPETPGDQGQGPSPYDESEVHDSFQQLIQEQSQCTAQEGLELQQREREVT
  GSSQQTLWRPEGTQSTATLRILASMPSRTIGRSRGAIISQYYNRTVQLRCRSSRPLLGNF
  VRSAWPSLRLYDLELDPTALEEEEKQSLLVKELQSLAVAQRDHMLRGMPLSLAEKRSLRE
  KSRTPRGKWRGQPGSGGVCSCCGRLRYACVLALHSLGLALLSALQALMPWRYALKRIGGQ
  FGSSVLSYFLFLKTLLAFNALLLLLLVAFIMGPQVAFPPALPGPAPVCTGLELLTGAGCF
  THTVMYYGHYSNATLNQPCGSPLDGSQCTPRVGGLPYNMPLAYLSTVGVSFFITCITLVY
  SMAHSFGESYRVGSTSGIHAITVFCSWDYKVTQKRASRLQQDNIRTRLKELLAEWQLRHS
  PRSVCGRLRQAAVLGLVWLLCLGTALGCAVAVHVFSEFMIQSPEAAGQEAVLLVLPLVVG
  LLNLGAPYLCRVLAALEPHDSPVLEVYVAICRNLILKLAILGTLCYHWLGRRVGVLQGQC
  WEDFVGQELYRFLVMDFVLMLLDTLFGELVWRIISEKKLKRRRKPEFDIARNVLELIYGQ
  TLTWLGVLFSPLLPAVQIIKLLLVFYVKKTSLLANCQAPRRPWLASHMSTVFLTLLCFPA
  FLGAAVFLCYAVWQVKPSSTCGPFRTLDTMYEAGRVWVRHLEAAGPRVSWLPWVHRYLME
  NTFFVFLVSALLLAVIYLNIQVVRGQRKVICLLKEQISNEGEDKIFLINKLHSIYERKER
  EERSRVGTTEEAAAPPALLTDEQDA

• Sequence length: 805

Pathways

Reactome:

Neutrophil degranulation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cafe-au-lait spot	Cafe au lait spots, multiple	rs1057518792, rs1555613206, rs1555608663
Carcinoma	Squamous cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259
Epidermodysplasia verruciformis	Epidermodysplasia Verruciformis, Epidermodysplasia verruciformis	rs121908330, rs121908327, rs121908329, rs769471844, rs1555655146, rs1567989416, rs1567997496, rs143773090, rs773779601, rs1598895511, rs1598923748, rs1486611027, rs1392702424, rs202217062	17139267, 15042430, 12426567

Unknown
Disease term	Disease name	Evidence	References	Source
Epidermodysplasia Verruciformis	epidermodysplasia verruciformis, susceptibility to, 1			GenCC
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	34136741
Carcinoma Renal Cell	Associate	37468683
Carcinoma Squamous Cell	Associate	25853559
Cystic Fibrosis	Associate	26047157
Dystonic Disorders	Associate	22952854
Epidermodysplasia Verruciformis	Associate	10084299, 10844558, 17139267, 18158319, 18224692, 21387292, 22952854, 25378492, 25853559, 30068544, 32917957, 33818984, 35154113, 36602881
Immune System Diseases	Associate	35154113
Papillomavirus Infections	Associate	25853559
Pseudomonas Infections	Associate	26047157
Psoriasis	Associate	10084299
Uterine Cervical Dysplasia	Associate	20084279
Uterine Cervical Neoplasms	Associate	21387292, 25853559
Uterine Cervicitis	Associate	21387292