1. Gene
  2. TMEM38B - transmembrane protein 38B Gene

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

TMEM38B Protein Structure

TRIC

TRIC: TRIC channel (33 - 228)

  • 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

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