Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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]

136

Show/Hide all (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
MIRT1436925	hsa-miR-136	CLIP-seq
MIRT1436926	hsa-miR-141	CLIP-seq
MIRT1436927	hsa-miR-144	CLIP-seq
MIRT1436928	hsa-miR-200a	CLIP-seq
MIRT1436929	hsa-miR-2117	CLIP-seq
MIRT1436930	hsa-miR-219-2-3p	CLIP-seq
MIRT1436931	hsa-miR-26a	CLIP-seq
MIRT1436932	hsa-miR-26b	CLIP-seq
MIRT1436933	hsa-miR-3065-5p	CLIP-seq
MIRT1436934	hsa-miR-3133	CLIP-seq
MIRT1436935	hsa-miR-3140-3p	CLIP-seq
MIRT1436936	hsa-miR-3143	CLIP-seq
MIRT1436937	hsa-miR-3163	CLIP-seq
MIRT1436938	hsa-miR-338-5p	CLIP-seq
MIRT1436939	hsa-miR-3617	CLIP-seq
MIRT1436940	hsa-miR-3647-3p	CLIP-seq
MIRT1436941	hsa-miR-3681	CLIP-seq
MIRT1436942	hsa-miR-3908	CLIP-seq
MIRT1436943	hsa-miR-3927	CLIP-seq
MIRT1436944	hsa-miR-3935	CLIP-seq
MIRT1436945	hsa-miR-3942-5p	CLIP-seq
MIRT1436946	hsa-miR-410	CLIP-seq
MIRT1436947	hsa-miR-4263	CLIP-seq
MIRT1436948	hsa-miR-4273	CLIP-seq
MIRT1436949	hsa-miR-4279	CLIP-seq
MIRT1436950	hsa-miR-4282	CLIP-seq
MIRT1436951	hsa-miR-4465	CLIP-seq
MIRT1436952	hsa-miR-4666-3p	CLIP-seq
MIRT1436953	hsa-miR-4677-5p	CLIP-seq
MIRT1436954	hsa-miR-4686	CLIP-seq
MIRT1436955	hsa-miR-4703-5p	CLIP-seq
MIRT1436956	hsa-miR-4766-3p	CLIP-seq
MIRT1436957	hsa-miR-4778-3p	CLIP-seq
MIRT1436958	hsa-miR-511	CLIP-seq
MIRT1436959	hsa-miR-513a-3p	CLIP-seq
MIRT1436960	hsa-miR-515-5p	CLIP-seq
MIRT1436961	hsa-miR-543	CLIP-seq
MIRT1436962	hsa-miR-548c-3p	CLIP-seq
MIRT1436963	hsa-miR-576-5p	CLIP-seq
MIRT1436964	hsa-miR-577	CLIP-seq
MIRT1436965	hsa-miR-582-5p	CLIP-seq
MIRT1436966	hsa-miR-590-3p	CLIP-seq
MIRT1436967	hsa-miR-641	CLIP-seq
MIRT1436968	hsa-miR-653	CLIP-seq
MIRT1436922	hsa-miR-101	CLIP-seq
MIRT1436927	hsa-miR-144	CLIP-seq
MIRT2130980	hsa-miR-23a	CLIP-seq
MIRT2130981	hsa-miR-23b	CLIP-seq
MIRT2130982	hsa-miR-23c	CLIP-seq
MIRT1436933	hsa-miR-3065-5p	CLIP-seq
MIRT1436935	hsa-miR-3140-3p	CLIP-seq
MIRT2130983	hsa-miR-3646	CLIP-seq
MIRT2130984	hsa-miR-3664-5p	CLIP-seq
MIRT2130985	hsa-miR-4714-5p	CLIP-seq
MIRT2130986	hsa-miR-4799-5p	CLIP-seq
MIRT2130987	hsa-miR-499-3p	CLIP-seq
MIRT2130988	hsa-miR-499a-3p	CLIP-seq
MIRT2130989	hsa-miR-579	CLIP-seq
MIRT1436965	hsa-miR-582-5p	CLIP-seq
MIRT1436968	hsa-miR-653	CLIP-seq
MIRT2130980	hsa-miR-23a	CLIP-seq
MIRT2130981	hsa-miR-23b	CLIP-seq
MIRT2130982	hsa-miR-23c	CLIP-seq
MIRT1436933	hsa-miR-3065-5p	CLIP-seq
MIRT1436934	hsa-miR-3133	CLIP-seq
MIRT1436935	hsa-miR-3140-3p	CLIP-seq
MIRT2352214	hsa-miR-3201	CLIP-seq
MIRT1436938	hsa-miR-338-5p	CLIP-seq
MIRT2352215	hsa-miR-376c	CLIP-seq
MIRT1436946	hsa-miR-410	CLIP-seq
MIRT2352216	hsa-miR-4271	CLIP-seq
MIRT1436950	hsa-miR-4282	CLIP-seq
MIRT1436952	hsa-miR-4666-3p	CLIP-seq
MIRT2352217	hsa-miR-4698	CLIP-seq
MIRT2352218	hsa-miR-4725-3p	CLIP-seq
MIRT2352219	hsa-miR-4728-3p	CLIP-seq
MIRT2352220	hsa-miR-4791	CLIP-seq
MIRT2130987	hsa-miR-499-3p	CLIP-seq
MIRT2130988	hsa-miR-499a-3p	CLIP-seq
MIRT2130989	hsa-miR-579	CLIP-seq
MIRT2352221	hsa-miR-887	CLIP-seq
MIRT2396008	hsa-miR-587	CLIP-seq
MIRT2645996	hsa-miR-1272	CLIP-seq
MIRT2645997	hsa-miR-1322	CLIP-seq
MIRT1436935	hsa-miR-3140-3p	CLIP-seq
MIRT1436936	hsa-miR-3143	CLIP-seq
MIRT2645998	hsa-miR-3145-3p	CLIP-seq
MIRT2645999	hsa-miR-3148	CLIP-seq
MIRT2646000	hsa-miR-3171	CLIP-seq
MIRT2646001	hsa-miR-325	CLIP-seq
MIRT2646002	hsa-miR-331-5p	CLIP-seq
MIRT2130983	hsa-miR-3646	CLIP-seq
MIRT2130984	hsa-miR-3664-5p	CLIP-seq
MIRT2646003	hsa-miR-3682-5p	CLIP-seq
MIRT2646004	hsa-miR-3688-3p	CLIP-seq
MIRT2646005	hsa-miR-3942-3p	CLIP-seq
MIRT2646006	hsa-miR-411	CLIP-seq
MIRT1436947	hsa-miR-4263	CLIP-seq
MIRT1436950	hsa-miR-4282	CLIP-seq
MIRT2646007	hsa-miR-4477a	CLIP-seq
MIRT2646008	hsa-miR-4517	CLIP-seq
MIRT2646009	hsa-miR-4678	CLIP-seq
MIRT1436954	hsa-miR-4686	CLIP-seq
MIRT2130985	hsa-miR-4714-5p	CLIP-seq
MIRT1436957	hsa-miR-4778-3p	CLIP-seq
MIRT2130986	hsa-miR-4799-5p	CLIP-seq
MIRT1436958	hsa-miR-511	CLIP-seq
MIRT1436959	hsa-miR-513a-3p	CLIP-seq
MIRT1436961	hsa-miR-543	CLIP-seq
MIRT2646010	hsa-miR-548a-3p	CLIP-seq
MIRT2646011	hsa-miR-548e	CLIP-seq
MIRT2646012	hsa-miR-548f	CLIP-seq
MIRT2646013	hsa-miR-548n	CLIP-seq
MIRT1436963	hsa-miR-576-5p	CLIP-seq
MIRT2396008	hsa-miR-587	CLIP-seq
MIRT2646014	hsa-miR-606	CLIP-seq
MIRT2646015	hsa-miR-628-3p	CLIP-seq
MIRT2646016	hsa-miR-889	CLIP-seq
MIRT2646001	hsa-miR-325	CLIP-seq
MIRT2130983	hsa-miR-3646	CLIP-seq
MIRT2130984	hsa-miR-3664-5p	CLIP-seq
MIRT2646003	hsa-miR-3682-5p	CLIP-seq
MIRT2646006	hsa-miR-411	CLIP-seq
MIRT2130985	hsa-miR-4714-5p	CLIP-seq
MIRT2130986	hsa-miR-4799-5p	CLIP-seq
MIRT2646010	hsa-miR-548a-3p	CLIP-seq
MIRT2646011	hsa-miR-548e	CLIP-seq
MIRT2646012	hsa-miR-548f	CLIP-seq
MIRT2646013	hsa-miR-548n	CLIP-seq
MIRT2646014	hsa-miR-606	CLIP-seq
MIRT2646015	hsa-miR-628-3p	CLIP-seq

Show/Hide all (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
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0016020	Component	Membrane	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0031965	Component	Nuclear membrane	NAS	19095005
GO:0033017	Component	Sarcoplasmic reticulum membrane	NAS	19095005
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060348	Process	Bone development	IEA
GO:0060487	Process	Lung epithelial cell differentiation	IEA
GO:0061033	Process	Secretion by lung epithelial cell involved in lung growth	IEA
GO:0070278	Process	Extracellular matrix constituent secretion	IEA
GO:0071313	Process	Cellular response to caffeine	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1903514	Process	Release of sequestered calcium ion into cytosol by endoplasmic reticulum	IEA

MIM	HGNC	e!Ensembl
611236	25535	ENSG00000095209

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

MDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPGAAALAWKNPISSWFTAMLHCFG
GGILSCLLLAEPPLKFLANHTNILLASSIWYITFFCPHDLVSQGYSYLPVQLLASGMKEV
TRTWKIVGGVTHANSYYKNGWIVMIAIGWARGAGGTIITNFERLVKGDWKPEGDEWLKMS
YPAKVTLLGSVIFTFQHTQHLAISKHNLMFLYTIFIVATKITMMTTQTSTMTFAPFEDTL
SWMLFGWQQPFSSCEKKSEAKSPSNGVGSLASKPVDVASDNVKKKHTKKNE

Sequence length

291

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta	Likely pathogenic	rs1836361994	RCV003226831	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 14	Pathogenic; Likely pathogenic	rs1179429999, rs2540045622	RCV001785068 RCV003990074	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 4	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIV	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM38B-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	Pubtator	36589848	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33601055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	32886284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	23054245, 23316006, 23771926, 24835313, 25046257, 26911354, 27441836, 27803445, 28323974		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	23054245		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	27441836, 29150909	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 4	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	23313006, 25046257		★★★★★ ★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XIV	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	23054245		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIV	Osteogenesis Imperfecta	BEFREE	28323974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIV	Osteogenesis Imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM38B (transmembrane protein 38B)