RBCC Red Blood Cell Collection

TMC8_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: TMC8 , EVER2, EVIN2
Protein names and data: TMC8_HUMAN , Transmembrane channel-like protein 8 , Epidermodysplasia verruciformis protein 2 Lenght: 726 a.a.
Mass: 81641 Da
fasta formatted sequence
Function: Probable ion channel (By similarity).
Disease: ( OMIM: 226400 605829 ) Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue specificity: Expressed in placenta, prostate and testis.

Genetic variants

306 - 306 N -> I (in dbSNP:rs7208422). VAR_023964 7208422
501 - 501 V -> I (in dbSNP:rs11651675). VAR_052337 11651675

Database cross-references

UniProt: Q8IU68
Ensembl: ENST00000318430
Ensembl: ENST00000589691
MIM: 226400
MIM: 605829
neXtProt: NX_Q8IU68
Antibodypedia: Q8IU68 (may not find the protein thus also not any antibody)
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