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transmembrane channel-like protein 8 (epidermodysplasia verruciformis protein 2, TMC8, EVER2, EVIN2)
Compartment:
- endoplasmic reticulum membrane
Expression:
- expressed in placenta, prostate, testis
Pathology:
- defects in TMC8 are a cause of epidermodysplasia verruciformis
General
glycoprotein
transmembrane 8 protein
Properties
SIZE: MW = 82 kD
entity length = 726 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: cytoplasmic domain {1-114}
transmembrane domain {115-135}
exoplasmic loop {136-200}
MOTIF: N-glycosylation site {N148}
transmembrane domain {201-221}
cytoplasmic loop {222-299}
transmembrane domain {300-320}
exoplasmic loop {321-338}
transmembrane domain {339-359}
cytoplasmic loop {360-426}
transmembrane domain {427-447}
exoplasmic loop {448-488}
transmembrane domain {489-509}
cytoplasmic loop {510-531}
transmembrane domain {532-552}
exoplasmic loop {553-594}
MOTIF: N-glycosylation site {N567}
transmembrane domain {595-615}
cytoplasmic domain {616-726}
Database Correlations
OMIM correlations
MORBIDMAP 605829
UniProt Q8IU68
Pfam PF07810
References
UniProt :accession Q8IU68