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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABR
ABR activator of RhoGEF and GTPase
Chromosome 17 · 17p13.3
NCBI Gene: 29Ensembl: ENSG00000159842.16HGNC: HGNC:81UniProt: B7Z2X0
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityGTPase activator activityprotein bindingactivation of GTPase activitysystemic lupus erythematosusfemoral neck fractureAbnormality of the gastrointestinal tractcoronary atherosclerosis
✦AI Summary

ABR (ABR activator of RhoGEF and GTPase) encodes a bifunctional regulatory protein with opposing activities toward small GTP-binding proteins. The protein contains a C-terminal GTPase-activating protein (GAP) domain that stimulates GTP hydrolysis by RAC1, RAC2, and CDC42, leading to downregulation of their active GTP-bound forms 1. Additionally, ABR possesses a central Dbl homology (DH) domain that functions as a guanine nucleotide exchange factor (GEF), promoting the conversion of CDC42, RHOA, and RAC1 from GDP-bound to GTP-bound forms 1. This unique dual functionality allows ABR to both activate and inactivate small GTPases depending on cellular context. ABR shows differential tissue expression with highest levels in brain and exhibits genomic variability due to tandem repeat regions in introns 2 1. The protein plays important roles in cellular processes including phagocytosis, where ABR knockdown reduces phagocytic activity by 40% in trabecular meshwork cells 3. ABR is downregulated by dexamethasone treatment, which may contribute to impaired phagocytosis in glucocorticoid-induced ocular hypertension 3. Unlike the related BCR protein, ABR lacks a serine/threonine kinase domain, suggesting distinct cellular functions despite overlapping GAP activities 1.

Sources cited
1
ABR contains GAP domain with activity toward RAC proteins and DH domain with GEF activity
PMID: 8349582
2
ABR shows differential tissue expression with highest levels in brain and contains variable tandem repeat regions
PMID: 2587217
3
ABR knockdown reduces phagocytosis by 40% and is downregulated by dexamethasone in trabecular meshwork cells
PMID: 31516309
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.31Weak
femoral neck fractureOpen Targets
0.28Weak
Abnormality of the gastrointestinal tractOpen Targets
0.27Weak
coronary atherosclerosisOpen Targets
0.27Weak
heart conduction diseaseOpen Targets
0.27Weak
Sjogren syndromeOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.25Weak
stricture or kinking of ureterOpen Targets
0.25Weak
heart diseaseOpen Targets
0.23Weak
pathological myopiaOpen Targets
0.22Weak
type 1 diabetes mellitusOpen Targets
0.22Weak
parasitic infectionOpen Targets
0.21Weak
clavicle fractureOpen Targets
0.19Weak
shoulder fractureOpen Targets
0.19Weak
VitiligoOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.19Weak
colon carcinomaOpen Targets
0.18Weak
lens diseaseOpen Targets
0.18Weak
septic shockOpen Targets
0.17Weak
infectionOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RHOAProtein interaction70%RALGAPA1Shared pathway60%GMIPShared pathway50%TIAM2Shared pathway50%BCRShared pathway50%ARHGAP9Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Lung
51%
Bone Marrow
49%
Ovary
27%
Liver
6%
Gene Interaction Network
Click a node to explore
ABRRHOARALGAPA1GMIPTIAM2BCRARHGAP9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q12979
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.25–0.43]
RankingsWhere ABR stands among ~20K protein-coding genes
  • #7,727of 20,598
    Most Researched59
  • #2,320of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedABR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Antibiotic Resistance: One Health One World Outlook.
PMID: 34900756
Front Cell Infect Microbiol · 2021
1.00
2
Framing Ethical Concerns and Attitudes towards Human Gene Patents in the Chinese Press.
PMID: 33717340
Asian Bioeth Rev · 2020
0.90
3
Genetic Susceptibility to Fungal Infections.
PMID: 38192892
Adv Biomed Res · 2023
0.80
4
Effect of 5'-Fluoro-2'-Deoxycytidine and Sodium Butyrate on the Gene Expression of the Intrinsic Apoptotic Pathway, p21, p27, and p53 Genes Expression, Cell Viability, and Apoptosis in Human Hepatocellular Carcinoma Cell Lines.
PMID: 37057236
Adv Biomed Res · 2023
0.70
5
Human ABR encodes a protein with GAPrac activity and homology to the DBL nucleotide exchange factor domain.
PMID: 8349582
J Biol Chem · 1993
0.60