TMEM47 - transmembrane protein 47 Gene

Also Known as BCMP1; VAB-9; TM4SF10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83604

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

Claudin_2: PMP-22/EMP/MP20/Claudin tight junction (28 - 171)

  • 0
  • 100
  • 181 a.a.
Protein Preferred Names Protein Names

transmembrane protein 47

  • brain cell membrane protein 1

TMEM47 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TMEM47 Q9BQJ4 TMEM179B Homo sapiens Q7Z7N9 32296183
Intra
TMEM47 Q9BQJ4 TMEM179B Homo sapiens Q7Z7N9 32296183
Intra
TMEM47 Q9BQJ4 SPACA1 Homo sapiens Q9HBV2 32296183
Intra
TMEM47 Q9BQJ4 SPACA1 Homo sapiens Q9HBV2 32296183
Intra
TMEM47 Q9BQJ4 SPACA1 Homo sapiens Q9HBV2 32296183
Intra
TMEM47 Q9BQJ4 SUSD3 Homo sapiens Q96L08 32296183
Intra
TMEM47 Q9BQJ4 SUSD3 Homo sapiens Q96L08 32296183
Intra
TMEM47 Q9BQJ4 FAM209A Homo sapiens Q5JX71 32296183
Intra
TMEM47 Q9BQJ4 FAM209A Homo sapiens Q5JX71 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others TMEM47 NCBI