TMC6 (transmembrane channel like 6)

2003-02-01 Affiliation

Identity

HGNC

TMC6

LOCATION

17q25.3

LOCUSID

11322

ALIAS

EV1,EVER1,EVIN1,LAK-4P,TNRC6C-AS1,lnc

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 11322
MIM: 605828
HGNC: 18021
Ensembl: ENSG00000141524

Variants:

dbSNP: 11322
ClinVar: 11322
TCGA: ENSG00000141524
COSMIC: TMC6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141524	ENST00000306591	Q7Z403
ENSG00000141524	ENST00000322914	Q7Z403
ENSG00000141524	ENST00000322914	A0A024R8V2
ENSG00000141524	ENST00000392467	Q7Z403
ENSG00000141524	ENST00000392467	A0A024R8V2
ENSG00000141524	ENST00000586126	K7ELP1
ENSG00000141524	ENST00000589271	K7ERH0
ENSG00000141524	ENST00000589553	Q7Z403
ENSG00000141524	ENST00000590602	Q7Z403
ENSG00000141524	ENST00000590602	A0A024R8V2
ENSG00000141524	ENST00000591436	Q7Z403
ENSG00000141524	ENST00000592063	K7ENC4
ENSG00000141524	ENST00000592594	K7ENM6

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12426567	2002	Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.	78
18158319	2008	Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses.	58
22761942	2012	EVER proteins, key elements of the natural anti-human papillomavirus barrier, are regulated upon T-cell activation.	23
30068544	2018	The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.	19
15042430	2004	Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.	10
21387292	2012	Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility.	10
17008061	2006	Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.	9
26047157	2015	Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.	9
29893424	2018	LncRNA TNRC6C-AS1 regulates UNC5B in thyroid cancer to influence cell proliferation, migration, and invasion as a competing endogenous RNA of miR-129-5p.	9
19706093	2009	Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation.	4

Citation

Dessen P

TMC6 (transmembrane channel like 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40507/tmc6