ABR - ABR activator of RhoGEF and GTPase Gene

Also Known as MDB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	7479768	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	7479768	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20962234	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of GTPase activity	IDA IDA: Inferred from direct assay	7479768	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

ABR Protein Structure

RhoGEF

PH

C2

RhoGAP

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

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13010	Laquinimod		99.46%	Yes

Clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-10528	Tasquinimod	Modulator	99.70%	Phase 3
HY-13743	Roquinimex	Inhibitor	99.69%	Phase 3
HY-W062904	Laquinimod sodium	Inhibitor	/	Phase 3
HY-13743R	Roquinimex (Standard)	Inhibitor	/	Phase 3
HY-100442	Paquinimod	Inhibitor	99.90%	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141537	ABR-238901	Inhibitor	98.92%	Unkown
HY-100442S1	Paquinimod-d5-1	Inhibitor	98.19%	Unkown
HY-10528S	Tasquinimod-d3	Modulator	99.34%	Unkown
HY-13010S	Laquinimod-d5	Inhibitor	98.25%	Unkown
HY-RS00110	ABR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-100442S	Paquinimod-d5	Inhibitor	/	Unkown
HY-RS17572	Abr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24032	Abr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99436	Anatumomab mafenatox	Inhibitor	/	Unkown

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
Others	ABR	NCBI