TMEM38B
entrez
55151
canonical
uniprot
Q9NVV0
canonical
ensembl
ENSG00000095209
resolver
ensp
ENSP00000363820
resolver
ensp
ENSP00000363824
resolver
ensp
ENSP00000554689
resolver
ensp
ENSP00000697325
resolver
enst
ENST00000374688
resolver
enst
ENST00000374692
resolver
genesymbol
TMEM38B
resolver
genesymbol_syn
C9orf87
resolver
genesymbol_syn
TRICB
resolver
hgnc
HGNC:25535
resolver
uniprot
A0A0A0MRS4
resolver
uniprot
Q5JR63
resolver
uniprot
Q5SVN5
resolver
uniprot
Q5SVN6
resolver
uniprot
Q5VTE2
resolver
uniprot
Q6IA97
resolver
uniprot_entry
A0A0A0MRS4_HUMAN
resolver
uniprot_entry
TM38B_HUMAN
resolver
uniprot_sec
Q5JR63
resolver
uniprot_sec
Q5SVN5
resolver
uniprot_sec
Q5SVN6
resolver
uniprot_sec
Q5VTE2
resolver
uniprot_sec
Q6IA97
resolver
activity_regulation
ACTIVITY REGULATION: Channel activity is activated by increased cytosolic Ca(2+) levels and blocked by luminal high Ca(2+) levels. {ECO:0000250|UniProtKB:Q6GN30}.
uniprot
proteins
amino_acid_sequence
MDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPGAAALAWKNPISSWFTAMLHCFGGGILSCLLLAEPPLKFLANHTNILLASSIWYITFFCPHDLVSQGYSYLPVQLLASGMKEVTRTWKIVGGVTHANSYYKNGWIVMIAIGWARGAGGTIITNFERLVKGDWKPEGDEWLKMSYPAKVTLLGSVIFTFQHTQHLAISKHNLMFLYTIFIVATKITMMTTQTSTMTFAPFEDTLSWMLFGWQQPFSSCEKKSEAKSPSNGVGSLASKPVDVASDNVKKKHTKKNE
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 14 (OI14) [MIM:615066]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. {ECO:0000269|PubMed:23054245, ECO:0000269|PubMed:23316006, ECO:0000269|PubMed:26911354}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). Activated by increased cytosolic Ca(2+) levels (By similarity). {ECO:0000250|UniProtKB:Q6GN30}.
uniprot
proteins
mass_dalton
32510
uniprot
proteins
protein_family
TMEM38 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23054245
uniprot
proteins
pubmed
23316006
uniprot
proteins
pubmed
26911354
uniprot
proteins
pubmed
38556553
uniprot
proteins
sequence_length
291
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9DAV9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9DAV9}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..33; /note="Helical;Name=1"; /evidence="ECO:0000255"; TRANSMEM 51..70; /note="Helical;Name=2"; /evidence="ECO:0000255"; TRANSMEM 83..99; /note="Helical;Name=3"; /evidence="ECO:0000255"; TRANSMEM 105..121; /note="Helical;Name=4"; /evidence="ECO:0000255"; TRANSMEM 140..156; /note="Helical;Name=5"; /evidence="ECO:0000255"; TRANSMEM 180..195; /note="Helical;Name=6"; /evidence="ECO:0000255"; TRANSMEM 208..227; /note="Helical;Name=7"; /evidence="ECO:0000255
uniprot
proteins