TMEM38B |
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Identifiers |
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Aliases | TMEM38B, C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1, transmembrane protein 38B |
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External IDs | OMIM: 611236; MGI: 1098718; HomoloGene: 10010; GeneCards: TMEM38B; OMA:TMEM38B - orthologs |
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Gene location (Mouse) |
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| Chr. | Chromosome 4 (mouse)[1] |
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| Band | 4 B2|4 28.76 cM | Start | 53,826,045 bp[1] |
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End | 53,862,019 bp[1] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - sperm
- biceps brachii
- right ventricle
- tibialis anterior muscle
- gastrocnemius muscle
- vastus lateralis muscle
- deltoid muscle
- islet of Langerhans
- corpus epididymis
- Achilles tendon
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| Top expressed in | - gastrula
- parotid gland
- temporal muscle
- triceps brachii muscle
- sternocleidomastoid muscle
- thoracic diaphragm
- submandibular gland
- granulocyte
- digastric muscle
- knee joint
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - potassium channel activity
- cation channel activity
- calcium-activated potassium channel activity
| Cellular component | - membrane
- integral component of membrane
- nuclear membrane
- endoplasmic reticulum membrane
- endoplasmic reticulum
- sarcoplasmic reticulum membrane
- nucleus
| Biological process | - potassium ion transport
- ion transport
- potassium ion transmembrane transport
- transport
- ossification
- endoplasmic reticulum organization
- phospholipid biosynthetic process
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- bone mineralization
- lung alveolus development
- release of sequestered calcium ion into cytosol
- bone development
- lung epithelial cell differentiation
- secretion by lung epithelial cell involved in lung growth
- extracellular matrix constituent secretion
- cellular response to caffeine
- release of sequestered calcium ion into cytosol by endoplasmic reticulum
- cation transmembrane transport
- ion transmembrane transport
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | n/a | Chr 4: 53.83 – 53.86 Mb |
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PubMed search | [2] | [3] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Trimeric intracellular cation-selective channel B (TRIC-B) is a monovalent cation channel in the ER membrane encoded by the transmembrane protein 38B (TMEM38B) gene.[4][5] It is one of two known TRIC proteins, the other being TRIC-A.
Function
TRIC-B is permeable to both Na+ and K+ but not divalent cations like Ca2+.[4] The channel exhibits marked voltage-dependence, becoming more open when the cytosol is more positively charged than the ER lumen. There at least four major sub-conductance states (with 80%, 60%, 46% and 30% of the conductance of the fully-opened channel).[4] TMEM38B-knockout mice exhibit reduced IP3-receptor-mediated Ca2+ release.[4] As such, K+ flux into the ER through TRIC-B is thought to support IP3-induced efflux of Ca2+ ions through IP3-gated Ca2+ channels in the ER membrane.
Clinical significance
Null mutations in TMEM38B reduce the levels of functional TRIC-B in heterozygotes and abolish expression of functional TRIC-B in homozygotes. Such mutations are an uncommon but relatively severe cause of autosomal recessive osteogenesis imperfecta or "brittle bone disease".[5]
See also
References
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028420 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c d Venturi, Elisa; Sitsapesan, Rebecca; Yamazaki, Daiju; Takeshima, Hiroshi (15 December 2012). "TRIC channels supporting efficient Ca2+ release from intracellular stores". European Journal of Physiology. 465 (2): 187–195. doi:10.1007/s00424-012-1197-5. PMID 23242030. S2CID 14397400.
- ^ a b Cabral, Wayne A.; Ishikawa, Masaki; Garten, Matthias; Makareeva, Elena N.; Sargent, Brandi M.; Weis, MaryAnn; Barnes, Aileen M.; Webb, Emma A.; Shaw, Nicholas J.; Ala-Kokko, Leena; Lacbawan, Felicitas L.; Högler, Wolfgang; Leikin, Sergey; Blank, Paul S.; Zimmerberg, Joshua; Eyre, David R.; Yamada, Yoshihiko; Marini, Joan C. (21 July 2016). "Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta". PLOS Genetics. 12 (7): e1006156. doi:10.1371/journal.pgen.1006156. PMC 4956114. PMID 27441836.