• Gene id: 55151

Gene Summary

• Gene Symbol: TMEM38B   Gene   UCSC   Ensembl
• Aliases: C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1
• Gene name: transmembrane protein 38B
• Alternate names: trimeric intracellular cation channel type B,
• Gene location: 9q31.2 (105694540: 105776628)     Exons: 10     NC_000009.12
• Gene summary(Entrez): This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
• OMIM: 611236

Protein Summary

• Protein general information: Q9NVV0  
  • Name: Trimeric intracellular cation channel type B (TRIC B) (TRICB) (Transmembrane protein 38B)
  • Length: 291  
  • Mass: 32510
• Sequence:

  MDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPGAAALAWKNPISSWFTAMLHCFGGGILSCLLLAEPPLK
  FLANHTNILLASSIWYITFFCPHDLVSQGYSYLPVQLLASGMKEVTRTWKIVGGVTHANSYYKNGWIVMIAIGWA
  RGAGGTIITNFERLVKGDWKPEGDEWLKMSYPAKVTLLGSVIFTFQHTQHLAISKHNLMFLYTIFIVATKITMMT
  TQTSTMTFAPFEDTLSWMLFGWQQPFSSCEKKSEAKSPSNGVGSLASKPVDVASDNVKKKHTKKNE

• Structural information:
  • Interpro: IPR007866  
  • STRING: ENSP00000363824
• Other Databases: GeneCards:  TMEM38B  Malacards:  TMEM38B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005261	cation channel activity	IEA	molecular function
GO:0015672	monovalent inorganic cation transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001503	ossification	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA	biological process
GO:0061033	secretion by lung epithelial cell involved in lung growth	IEA	biological process
GO:0070278	extracellular matrix constituent secretion	IEA	biological process
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060487	lung epithelial cell differentiation	IEA	biological process
GO:0071313	cellular response to caffeine	IEA	biological process
GO:1903514	release of sequestered calcium ion into cytosol by endoplasmic reticulum	IEA	biological process
GO:0005267	potassium channel activity	TAS	molecular function
GO:0031965	nuclear membrane	NAS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Osteogenesis imperfecta	KEGG:H00506
Osteogenesis imperfecta	KEGG:H00506
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R