Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29
Gene name Gene Name - the full gene name approved by the HGNC.
ABR activator of RhoGEF and GTPase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABR
Synonyms (NCBI Gene) Gene synonyms aliases
MDB
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDB
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 assay, Western blotting, qRT-PCR 31823748
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 7479768
GO:0005096 Function GTPase activator activity IDA 7479768
GO:0005515 Function Protein binding IPI 20962234
GO:0005829 Component Cytosol TAS
GO:0007186 Process G protein-coupled receptor signaling pathway TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600365 81 ENSG00000159842
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 24763052
Unknown
Disease term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft Lip With Or Without Cleft Palate GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Inhibit 34783629
Classical Lissencephalies and Subcortical Band Heterotopias Associate 8262969
Colorectal Neoplasms Associate 24966994
Neoplasms Associate 16948864
Neoplasms Inhibit 34783629
Neurologic Manifestations Associate 8262969
Pulmonary Disease Chronic Obstructive Associate 37650285
Sarcoma Associate 16948864
Thyroid Cancer Papillary Associate 37324256
Thyroid Neoplasms Associate 37854594