Gene Gene information from NCBI Gene database.
Entrez ID 29
Gene name ABR activator of RhoGEF and GTPase
Gene symbol ABR
Synonyms (NCBI Gene)
MDB
Chromosome 17
Chromosome location 17p13.3
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
miRNA miRNA information provided by mirtarbase database.
437
miRTarBase ID miRNA Experiments Reference
MIRT050728 hsa-miR-18a-5p CLASH 23622248
MIRT040702 hsa-miR-92b-3p CLASH 23622248
MIRT038901 hsa-miR-93-3p CLASH 23622248
MIRT037178 hsa-miR-877-3p CLASH 23622248
MIRT733077 hsa-miR-762 Luciferase reporter assayWestern blottingqRT-PCR 31823748
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 7479768
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005096 Function GTPase activator activity IDA 7479768
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600365 81 ENSG00000159842
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12979
Protein name Active breakpoint cluster region-related protein
Protein function Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 95 282 RhoGEF domain Domain
PF00169 PH 302 459 PH domain Domain
PF00168 C2 504 610 C2 domain Domain
PF00620 RhoGAP 661 813 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly enriched in the brain. Much weaker expression in heart, lung and muscle.
Sequence
MEPLSHRGLPRLSWIDTLYSNFSYGTDEYDGEGNEEQKGPPEGSETMPYIDESPTMSPQL
SARSQGGGDGVSPTPPEGLAPGVEAGKGLEMRKLVLSGFLASEEIYINQLEALLLPMKPL
KATATTSQPVLTIQQIETIFYKIQDIYEIHKEFYDNLCPKVQQWDSQVTMGHLFQKLASQ
LGVYKAFVDNYKVALETAEKCSQSNNQFQKISEELKVKGPKDSKDSHTSVTMEALLYKPI
DRVTRSTLVLHDLLKHTPVDHPDYPLLQDALRISQNFLSSIN
EDIDPRRTAVTTPKGETR
QLVKDGFLVEVSESSRKLRHVFLFTDVLLCAKLKKTSAGKHQQYDCKWYIPLADLVFPSP
EESEASPQVHPFPDHELEDMKMKISALKSEIQKEKANKGQSRAIERLKKKMFENEFLLLL
NSPTIPFRIHNRNGKSYLFLLSSDYERSEWREAIQKLQK
KDLQAFVLSSVELQVLTGSCF
KLRTVHNIPVTSNKDDDESPGLYGFLHVIVHSAKGFKQSANLYCTLEVDSFGYFVSKAKT
RVFRDTAEPKWDEEFEIELEGSQSLRILCYEKCYDKTKVNKDNNEIVDKIMGKGQIQLDP
QTVETKNWHT
DVIEMNGIKVEFSMKFTSRDMSLKRTPSKKQTGVFGVKISVVTKRERSKV
PYIVRQCVEEVEKRGIEEVGIYRISGVATDIQALKAVFDANNKDILLMLSDMDINAIAGT
LKLYFRELPEPLLTDRLYPAFMEGIALSDPAAKENCMMHLLRSLPDPNLITFLFLLEHLK
RVAEKEPINKMSLHNLATVFGPTLLRPSEVESK
AHLTSAADIWSHDVMAQVQVLLYYLQH
PPISFAELKRNTLYFSTDV
Sequence length 859
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ABR-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 28945052, 29334639
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 3127785
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 7829075
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 7536455
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23497784
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 23497784
★☆☆☆☆
Found in Text Mining only
Auditory Perceptual Disorders Auditory processing disorder BEFREE 30682902
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 21388612
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28703710
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 30773991
★☆☆☆☆
Found in Text Mining only