TMEM38B

TMEM38B
Identifiers
AliasesTMEM38B, C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1, transmembrane protein 38B
External IDsOMIM: 611236; MGI: 1098718; HomoloGene: 10010; GeneCards: TMEM38B; OMA:TMEM38B - orthologs
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[1]
Chromosome 4 (mouse)
Genomic location for TMEM38B
Genomic location for TMEM38B
Band4 B2|4 28.76 cMStart53,826,045 bp[1]
End53,862,019 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
  • gastrula

  • parotid gland

  • temporal muscle

  • triceps brachii muscle

  • sternocleidomastoid muscle

  • thoracic diaphragm

  • submandibular gland

  • granulocyte

  • digastric muscle

  • knee joint
More reference expression data
BioGPS
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
SpeciesHumanMouse
Entrez

55151

52076

Ensembl

n/a

ENSMUSG00000028420

UniProt

Q9NVV0

Q9DAV9

RefSeq (mRNA)

NM_018112

NM_028053

RefSeq (protein)

NP_060582

NP_082329

Location (UCSC)n/aChr 4: 53.83 – 53.86 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/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]

See also

References

  1. ^ a b c 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.
  4. ^ 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.
  5. ^ 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.