TMEM38B

TMEM38B
Identifiers
Aliases	TMEM38B, C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1, transmembrane protein 38B
External IDs	OMIM: 611236 MGI: 1098718 HomoloGene: 10010 GeneCards: TMEM38B
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[1]
End	53,862,019 bp[1]
RNA expression pattern
	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;
	Top expressed in
	parotid gland; ; temporal muscle; ; triceps brachii muscle; ; sternocleidomastoid muscle; ; thoracic diaphragm; ; submandibular gland; ; digastric muscle; ; knee joint; ; left lobe of liver; ; soleus muscle;
	More reference expression data
	n/a
Gene ontology
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
Orthologs
	55151
	52076
	n/a
	ENSMUSG00000028420
	Q9NVV0
	Q9DAV9
	NM_018112
	NM_028053
	NP_060582
	NP_082329
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

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.
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.
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.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000028420 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[venturi-4] 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.

[cabral2016-5] 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.

TMEM38B

Function

Clinical significance

See also

References