TMC6

Protein-coding gene in the species Homo sapiens
TMC6
Identifiers
AliasesTMC6, EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6, TNRC6C-AS1, lnc
External IDsOMIM: 605828 MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for TMC6
Genomic location for TMC6
Band17q25.3Start78,107,397 bp[1]
End78,132,407 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for TMC6
Genomic location for TMC6
Band11 E2|11 82.96 cMStart117,656,814 bp[2]
End117,673,024 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • lymph node

  • spleen

  • sural nerve

  • upper lobe of left lung

  • appendix

  • right lung

  • blood

  • bone marrow cells

  • external globus pallidus

  • inferior ganglion of vagus nerve
Top expressed in
  • thymus

  • blood

  • otic placode

  • saccule

  • lip

  • spleen

  • epithelium of stomach

  • yolk sac

  • duodenum

  • ankle joint
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • ion channel activity
  • mechanosensitive ion channel activity
Cellular component
  • cytoplasm
  • integral component of membrane
  • Golgi apparatus
  • nuclear membrane
  • extracellular exosome
  • endoplasmic reticulum membrane
  • endoplasmic reticulum
  • membrane
  • plasma membrane
  • specific granule membrane
  • tertiary granule membrane
  • integral component of plasma membrane
Biological process
  • ion transport
  • neutrophil degranulation
  • transport
  • biological process
  • ion transmembrane transport
  • transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

11322

217353

Ensembl

ENSG00000141524

ENSMUSG00000025572

UniProt

Q7Z403

Q7TN60

RefSeq (mRNA)
NM_001127198
NM_007267
NM_001321185
NM_001374593
NM_001374594

NM_001375353
NM_001375354
NM_001374596

NM_145439
NM_181321

RefSeq (protein)
NP_001120670
NP_001308114
NP_009198
NP_001361522
NP_001361523

NP_001362282
NP_001362283
NP_001361525

NP_663414

Location (UCSC)Chr 17: 78.11 – 78.13 MbChr 11: 117.66 – 117.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.[5][6] In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.[7]

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis,[7] which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141524 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025572 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (Nov 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nat Genet. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567. S2CID 20013445.
  6. ^ "Entrez Gene: TMC6 transmembrane channel-like 6".
  7. ^ a b Lazarczyk, M; C Pons; JA Mendoza; P Cassonnet; Y Jacob; M Favre (2008-01-21). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses". The Journal of Experimental Medicine. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC 2234378. PMID 18158319.

Further reading

  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Zuo YG, Ma D, Zhang Y, et al. (2007). "Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis". J. Dermatol. Sci. 44 (3): 153–9. doi:10.1016/j.jdermsci.2006.08.013. PMID 17008061.
  • Donfack J, Buchinsky FJ, Derkay CS, et al. (2006). "Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP". Int. J. Pediatr. Otorhinolaryngol. 70 (7): 1235–40. doi:10.1016/j.ijporl.2006.01.001. PMID 16487602.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Tate G, Suzuki T, Kishimoto K, Mitsuya T (2004). "Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis". J. Hum. Genet. 49 (4): 223–5. doi:10.1007/s10038-004-0135-6. PMID 15042430.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Kurima K, Yang Y, Sorber K, Griffith AJ (2004). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis". Genomics. 82 (3): 300–8. doi:10.1016/S0888-7543(03)00154-X. PMID 12906855.
  • Keresztes G, Mutai H, Heller S (2003). "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins". BMC Genomics. 4 (1): 24. doi:10.1186/1471-2164-4-24. PMC 165604. PMID 12812529.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ramoz N, Taïeb A, Rueda LA, et al. (2000). "Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25". J. Invest. Dermatol. 114 (6): 1148–53. doi:10.1046/j.1523-1747.2000.00996.x. PMID 10844558.
  • Ramoz N, Rueda LA, Bouadjar B, et al. (1999). "A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus". J. Invest. Dermatol. 112 (3): 259–63. doi:10.1046/j.1523-1747.1999.00536.x. PMID 10084299.



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