TMEM38B - transmembrane protein 38B Gene

Homo sapiens

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

Gene ID: 55151 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

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