TMEM38B - transmembrane protein 38B Gene

Also Known as OI14; TRICB; TRIC-B; C9orf87; D4Ertd89e; bA219P18.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55151

About TMEM38B

Cytogenetic location: 9q31.2 Genomic coordinates (GRCh38): 9:105,694,541-105,776,629 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 13.5), testis (RPKM 9.6) and 23 other tissues.

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]

TMEM38B Products (1)

mRNA	Protein	Name
NM_018112.3	NP_060582.1	trimeric intracellular cation channel type B

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM38B Protein Structure

TRIC

0
100
200
291 a.a.

Protein Preferred Names	Protein Names
trimeric intracellular cation channel type B

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type Xiv	Osteogenesis Imperfecta Type 14 OI14 Osteogenesis Imperfecta Type Xiv Oi, Type Xiv Osteogenesis Imperfecta 14 Oi Type Xiv Oi-Xiv
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Osteogenesis Imperfecta, Type Xv	Osteogenesis Imperfecta Type 15 OI15 Osteogenesis Imperfecta Type Xv Oi, Type Xv Osteogenesis Imperfecta 15 Oi Type Xv Oi-Xv
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Eds Viib EDSARTH2 Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant Eds7b Ehlers-Danlos Syndrome Arthrochalasia Type 2 Ehlers-Danlos Syndrome Type 7b Ehlers-Danlos Syndrome 7b Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Shox-Related Short Stature	Idiopathic Familial Short Stature
Brittle Cornea Syndrome 1	Brittle Cornea Syndrome Fragilitas Oculi With Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae BCS1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Ehlers-Danlos Syndrome, Type Vib, Formerly Eds6b, Formerly Type Vib Ehlers-Danlos Syndrome Eds Vib Ehlers-Danlos Syndrome Type 6b Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility Eds6b Formerly Ehlers-Danlos Syndrome Type Vib Formerly Ehlers-Danlos Syndrome Type 6 Cornea, Brittle, Syndrome Cornea, Brittle, Syndrome, Type 1 Ehlers-Danlos Syndrome 6b
Congenital Disorder Of Glycosylation, Type Ig	CDG1G Alg12-Congenital Disorder Of Glycosylation Cdg Ig Congenital Disorder Of Glycosylation Type 1g Congenital Disorder Of Glycosylation Type Ig Cdgig Congenital Disorder Of Glycosylation Ig Congenital Disorder Of Glycosylation 1g Cdg-Ig Alg12-Cdg Cdg Syndrome Type Ig Carbohydrate Deficient Glycoprotein Syndrome Type Ig Mannosyltransferase 8 Deficiency Glycosylation, Congenital Disorder Of, Type Ig
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans	KPA Burnett Schwartz Berberian Syndrome
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Bone Development Disease
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14720	TMEM38B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TMEM38B	VGNC	VGNC:79510
Felis catus	TMEM38B	VGNC	VGNC:66342
Bos taurus	TMEM38B	VGNC	VGNC:36081
Mus musculus	TMEM38B	MGD	MGI:1098718
Rattus norvegicus	TMEM38B	RGD	RGD:1305703
Canis familiaris	TMEM38B	VGNC	VGNC:47575
Others	TMEM38B	NCBI