RAB8B - RAB8B, member RAS oncogene family Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51762

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
Molecular Function GO Annotation Evidence References Source
enables GDP binding IDA
IDA: Inferred from direct assay
20937701 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17646400 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
18346465 GOA
Biological Process GO Annotation Evidence References Source
involved in antigen processing and presentation IMP
IMP: Inferred from mutant phenotype
19717423 GOA
NOT involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
17646400 GOA
involved in protein import into peroxisome membrane IDA
IDA: Inferred from direct assay
18346465 GOA
Cellular Component GO Annotation Evidence References Source
located in endosome membrane IDA
IDA: Inferred from direct assay
32344433 GOA
located in peroxisomal membrane IDA
IDA: Inferred from direct assay
18346465 GOA
located in phagocytic vesicle IDA
IDA: Inferred from direct assay
21255211 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

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
Others RAB8B NCBI