TMEM38B (transmembrane protein 38B)

2014-11-01  

Identity

HGNC
LOCATION
9q31.2
LOCUSID
ALIAS
C9orf87,D4Ertd89e,OI14,TRIC-B,TRICB,bA219P18.1
FUSION GENES

Other Information

Locus ID:

NCBI: 55151
MIM: 611236
HGNC: 25535
Ensembl: ENSG00000095209

Variants:

dbSNP: 55151
ClinVar: 55151
TCGA: ENSG00000095209
COSMIC: TMEM38B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095209ENST00000374688A0A0A0MRS4
ENSG00000095209ENST00000374692Q9NVV0
ENSG00000095209ENST00000434214X6RGH1
ENSG00000095209ENST00000435034H7C3B3
ENSG00000095209ENST00000451560H7C4C1

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
230542452012Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.43
233160062013A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.28
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
274418362016Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.15
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
269113542016Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.7

Citation

Dessen P

TMEM38B (transmembrane protein 38B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74938/tmem38b