InnateDB Protein
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IDBP-79734.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TMEM38B
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Protein Name
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transmembrane protein 38B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000363820
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InnateDB Gene
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IDBG-79728 (TMEM38B)
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Protein Structure
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Function |
Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). {ECO:0000250}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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Disease Associations |
Osteogenesis imperfecta 14 (OI14) [MIM:615066]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder 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:0000269PubMed:23054245, ECO:0000269PubMed:23316006}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005261
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cation channel activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007866
TRIC channel
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PFAM |
PF05197
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
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PhosphoSite |
PhosphoSite-Q9NVV0
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TrEMBL |
X6RGH1
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UniProt Splice Variant |
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Entrez Gene |
55151
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UniGene |
Hs.741980
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RefSeq |
XP_005252132
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HUGO |
HGNC:25535
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OMIM |
611236
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CCDS |
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HPRD |
15538
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IMGT |
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EMBL |
AL592437
AL592488
AL627247
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GenPept |
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