1. Gene
  2. ABR - ABR activator of RhoGEF and GTPase Gene

ABR - ABR activator of RhoGEF and GTPase Gene

Homo sapiens

Also known as MDB

Gene ID: 29 | Gene type: protein coding

About ABR

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,003,519-1,229,722 (from NCBI)

This gene has 36 transcripts (splice variants), 1 gene allele, 204 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 31.0), heart (RPKM 11.9) and 23 other tissues.

Summary

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

ABR Products(8)

mRNA Protein Name
NM_001092.5 NP_001083.2 active breakpoint cluster region-related protein isoform b
NM_001159746.3 NP_001153218.1 active breakpoint cluster region-related protein isoform c
NM_001256847.3 NP_001243776.1 active breakpoint cluster region-related protein isoform d
NM_001282149.2 NP_001269078.1 active breakpoint cluster region-related protein isoform e
NM_001322840.2 NP_001309769.1 active breakpoint cluster region-related protein isoform c
NM_001322841.2 NP_001309770.1 active breakpoint cluster region-related protein isoform f
NM_001322842.2 NP_001309771.1 active breakpoint cluster region-related protein isoform g
NM_021962.5 NP_068781.2 active breakpoint cluster region-related protein isoform a

ABR Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (99 - 283)

PH

PH: PH domain (303 - 459)

C2

C2: C2 domain (506 - 588)

RhoGAP

RhoGAP: RhoGAP domain (661 - 809)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 859 a.a.
Protein Preferred Names Protein Names

active breakpoint cluster region-related protein

ABR, RhoGEF and GTPase activating protein

Related Diseases

Diseases Alias
Outlet Dysfunction Constipation
Taylor'S Syndrome

Pelvic Congestion Syndrome

Congestion-Fibrosis Syndrome

Taylor Syndrome

Gastrointestinal Anthrax
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
Bos taurus ABR VGNC VGNC:25511
Mus musculus ABR MGD MGI:107771
Felis catus ABR VGNC VGNC:68613
Canis familiaris ABR VGNC VGNC:37481
Rattus norvegicus ABR RGD RGD:1306279
Macaca mulatta ABR VGNC VGNC:69589
Macaca fascicularis ABR NCBI
Others ABR NCBI