1. Gene
  2. RAB8B - RAB8B, member RAS oncogene family Gene

RAB8B - RAB8B, member RAS oncogene family Gene

Homo sapiens
Gene ID: 51762 | Gene type: protein coding

About RAB8B

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,189,606-63,267,776 (from NCBI)

This gene has 5 transcripts (splice variants), 254 orthologues and 68 paralogues. Ubiquitous expression in bone marrow (RPKM 21.6), lymph node (RPKM 18.0) and 24 other tissues.

Summary

RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]

RAB8B Products(1)

mRNA Protein Name
NM_016530.3 NP_057614.1 ras-related protein Rab-8B

RAB8B Protein Structure

Ras

Ras: Ras family (10 - 170)

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

ras-related protein Rab-8B

RAB-8b protein

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 9

Auditory Neuropathy, Autosomal Recessive, 1

Neurosensory Nonsyndromic Recessive Deafness 9

DFNB9

Nsrd9

Autosomal Recessive Nonsyndromic Deafness 9

Autosomal Recessive Deafness 9

Nrsd9

AUNB1

Nonsyndromic Auditory Neuropathy Autosomal Recessive

Nsran

Deafness, Autosomal Recessive, 9

Deafness Neurosensory Autosomal Recessive 9

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9

Non-Syndromic Recessive Hearing Loss 9

Deafness, Autosomal Recessive, Type 9

Auditory Neuropathy, Nonsyndromic Recessive

Oguchi Disease 2

Oguchi Disease-2

CSNBO2

Night Blindness, Congenital Stationary, Oguchi Type 2

Congenital Stationary Night Blindness Oguchi Type 2

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

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 RAB8B VGNC VGNC:81550
Bos taurus RAB8B VGNC VGNC:33663
Mus musculus RAB8B MGD MGI:2442982
Felis catus RAB8B VGNC VGNC:97595
Canis familiaris RAB8B VGNC VGNC:45296
Rattus norvegicus RAB8B RGD RGD:628764