TMC8 (transmembrane channel like 8)

2003-02-01  

Identity

HGNC
TMC8
LOCATION
17q25.3
LOCUSID
147138
ALIAS
EV2,EVER2,EVIN2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 147138
MIM: 605829
HGNC: 20474
Ensembl: ENSG00000167895

Variants:

dbSNP: 147138
ClinVar: 147138
TCGA: ENSG00000167895
COSMIC: TMC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167895ENST00000318430Q8IU68
ENSG00000167895ENST00000318430A0A024R8N8
ENSG00000167895ENST00000589691Q8IU68
ENSG00000167895ENST00000590799K7EJ72

Expression (GTEx)

0
50
100
150
200
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
124265672002Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.78
227619422012EVER proteins, key elements of the natural anti-human papillomavirus barrier, are regulated upon T-cell activation.23
300685442018The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.19
229036822013EVER2 deficiency is associated with mild T-cell abnormalities.13
182246922008Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study.12
234292852013EVER2 protein binds TRADD to promote TNF-α-induced apoptosis.12
213872922012Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility.10
221585472012Lack of EVER2 protein in two epidermodysplasia verruciformis patients with skin cancer presenting previously unreported homozygous genetic deletions in the EVER2 gene.8
245868102014Loss of the HPV-infection resistance EVER2 protein impairs NF-κB signaling pathways in keratinocytes.8
252203802014TMC8 (EVER2) attenuates intracellular signaling by Zn2+ and Ca2+ and suppresses activation of Cl- currents.8

Citation

Dessen P

TMC8 (transmembrane channel like 8)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40508/tmc8