Gene Gene information from NCBI Gene database.
Entrez ID 55151
Gene name Transmembrane protein 38B
Gene symbol TMEM38B
Synonyms (NCBI Gene)
C9orf87D4Ertd89eOI14TRIC-BTRICBbA219P18.1
Chromosome 9
Chromosome location 9q31.2
Summary 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]
miRNA miRNA information provided by mirtarbase database.
136
miRTarBase ID miRNA Experiments Reference
MIRT025820 hsa-miR-7-5p Microarray 17612493
MIRT027604 hsa-miR-98-5p Microarray 19088304
MIRT1436922 hsa-miR-101 CLIP-seq
MIRT1436923 hsa-miR-1283 CLIP-seq
MIRT1436924 hsa-miR-1297 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0005267 Function Potassium channel activity IEA
GO:0005267 Function Potassium channel activity ISS
GO:0005267 Function Potassium channel activity TAS 19095005
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611236 25535 ENSG00000095209
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVV0
Protein name Trimeric intracellular cation channel type B (TRIC-B) (TRICB) (Transmembrane protein 38B)
Protein function Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). Ac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05197 TRIC 36 227 TRIC channel Family
Sequence
Sequence length 291
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Osteogenesis imperfecta Likely pathogenic rs1836361994 RCV003226831
Osteogenesis imperfecta type 14 Pathogenic; Likely pathogenic rs1179429999, rs2540045622 RCV001785068
RCV003990074
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs114774406 RCV005917631
TMEM38B-related disorder Benign; Uncertain significance; Conflicting classifications of pathogenicity rs372593889, rs2540105814, rs140157299, rs149026877, rs148378635, rs751973432 RCV004754846
RCV003417001
RCV003957920
RCV003940375
RCV003920844
RCV003945913
Uterine corpus endometrial carcinoma Likely benign rs114774406 RCV005917632
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Insufficiency Associate 27441836
Azoospermia Inhibit 36589848
HEM dysplasia Associate 31218223
Melanoma Associate 33601055
Mucopolysaccharidoses Associate 32886284
Neoplasms Associate 33601055
Oligospermia Associate 36589848
Osteogenesis Imperfecta Associate 27441836, 29150909
Syndrome Associate 36589848