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
373486832023Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study.0
373486832023Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study.0
269113542016Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.20
274418362016Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.32
269113542016Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.20
274418362016Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.32
233160062013A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.42
233160062013A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.42
230542452012Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.58
230542452012Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.58
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.36
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.36

Citation

Dessen P

TMEM38B (transmembrane protein 38B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74938/tmem38b-(transmembrane-protein-38b)