TMEM47 - transmembrane protein 47 Gene

Homo sapiens

Also known as BCMP1; VAB-9; TM4SF10

Gene ID: 83604 | Gene type: protein coding

About TMEM47

Cytogenetic location: Xp21.1 Genomic coordinates (GRCh38): X:34,627,075-34,657,285 (from NCBI)

This gene has 1 transcript (splice variant), 246 orthologues and 1 paralogue. Ubiquitous expression in fat (RPKM 31.0), urinary bladder (RPKM 27.6) and 23 other tissues.

Summary

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]

TMEM47 Products(1)

mRNA	Protein	Name
NM_031442.4	NP_113630.1	transmembrane protein 47

TMEM47 Protein Structure

Claudin_2

0
100
181 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 47

brain cell membrane protein 1

Related Diseases

Diseases

Alias

Brain Ependymoma

Ependymal Tumor Of Brain

Ependymoma Of Brain

Dandy-Walker Syndrome

Dandy-Walker Malformation	DWS
Atresia Of Foramina Of Magendie And Luschka	Dandy-Walker Complex
Dandy-Walker Cyst	Dandy-Walker Deformity
Dandy Walker Cyst	Dw Complex
Dandy-Walker Syndrome Or Malformation	Dandy-Walker Variant
Mega Cisterna Magna	Dwm
Hydrocephalus, Internal, Dandy-Walker Type	Hydrocephalus, Noncommunicating, Dandy-Walker Type
Luschka-Magendie Foramina Atresia	Isolated Dandy-Walker Malformation
Mega-Cisterna Magna	Dandy Walker Variant
Atresia Of Foramen Of Luschka	Atresia Of Foramen Of Magendie
Congenital Blockage Of Foramen Magendie

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Hypotonia

Spherocytosis, Type 1

Hereditary Spherocytosis Type 1	SPH1
Hs1	Spherocytosis, Hereditary, 1
Sph	Hs
Hereditary Spherocytosis 1	Spherocytosis 1

Myostatin-Related Muscle Hypertrophy

Mslhp

Muscle Hypertrophy Syndrome

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Progesterone-Receptor Positive Breast Cancer

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-RS14728	TMEM47 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TMEM47	VGNC	VGNC:47584
Bos taurus	TMEM47	VGNC	VGNC:36090
Mus musculus	TMEM47	MGD	MGI:2177570
Rattus norvegicus	TMEM47	RGD	RGD:1564799

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