Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABR Gene

Aliases for ABR Gene

  • Active BCR-Related 2 3 5
  • Active Breakpoint Cluster Region-Related Protein 3
  • Active BCR-Related Gene 2
  • MDB 3

External Ids for ABR Gene

Previous GeneCards Identifiers for ABR Gene

  • GC17M001004
  • GC17M001165
  • GC17M000861
  • GC17M000891
  • GC17M000853
  • GC17M000813
  • GC17M000907

Summaries for ABR Gene

Entrez Gene Summary for ABR 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 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]

GeneCards Summary for ABR Gene

ABR (Active BCR-Related) is a Protein Coding gene. Diseases associated with ABR include Retroperitoneal Neuroblastoma. Among its related pathways are Regulation of RhoA activity and p75 NTR receptor-mediated signalling. GO annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is BCR.

UniProtKB/Swiss-Prot for ABR Gene

  • GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABR Gene

Genomics for ABR Gene

Regulatory Elements for ABR Gene

Enhancers for ABR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ABR on UCSC Golden Path with GeneCards custom track

Promoters for ABR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABR on UCSC Golden Path with GeneCards custom track

Genomic Location for ABR Gene

Chromosome:
17
Start:
1,003,518 bp from pter
End:
1,229,021 bp from pter
Size:
225,504 bases
Orientation:
Minus strand

Genomic View for ABR Gene

Genes around ABR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABR Gene

Proteins for ABR Gene

  • Protein details for ABR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12979-ABR_HUMAN
    Recommended name:
    Active breakpoint cluster region-related protein
    Protein Accession:
    Q12979
    Secondary Accessions:
    • B3KW89
    • B7Z6H7
    • D3DTH3
    • D3DTH4
    • F5H3S2
    • F5H8B3
    • Q13693
    • Q13694

    Protein attributes for ABR Gene

    Size:
    859 amino acids
    Molecular mass:
    97598 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC37518.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABR Gene

Post-translational modifications for ABR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABR Gene

Domains & Families for ABR Gene

Graphical View of Domain Structure for InterPro Entry

Q12979

UniProtKB/Swiss-Prot:

ABR_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 Rho-GAP domain.
genes like me logo Genes that share domains with ABR: view

Function for ABR Gene

Molecular function for ABR Gene

GENATLAS Biochemistry:
BCR-related gene,active
UniProtKB/Swiss-Prot Function:
GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.

Gene Ontology (GO) - Molecular Function for ABR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
GO:0005096 GTPase activator activity TAS --
genes like me logo Genes that share ontologies with ABR: view
genes like me logo Genes that share phenotypes with ABR: view

Animal Models for ABR Gene

MGI Knock Outs for ABR:

Animal Model Products

CRISPR Products

miRNA for ABR Gene

Clone Products

  • Addgene plasmids for ABR

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABR Gene

Localization for ABR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABR Gene COMPARTMENTS Subcellular localization image for ABR gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ABR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABR Gene

Pathways & Interactions for ABR Gene

genes like me logo Genes that share pathways with ABR: view

Gene Ontology (GO) - Biological Process for ABR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002692 negative regulation of cellular extravasation IEA --
GO:0007264 small GTPase mediated signal transduction TAS 8262969
GO:0007420 brain development IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0030336 negative regulation of cell migration IEA --
genes like me logo Genes that share ontologies with ABR: view

No data available for SIGNOR curated interactions for ABR Gene

Drugs & Compounds for ABR Gene

(3) Drugs for ABR Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloral hydrate Approved, Illicit, Vet_approved Pharma 14
Menthol Approved Pharma Partial agonist, Activator 2184
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for ABR Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABR: view

Transcripts for ABR Gene

Unigene Clusters for ABR Gene

Active BCR-related:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for ABR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ·
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6: -
SP7:
SP8:
SP9: - -
SP10: - -
SP11:
SP12: -

ExUns: 21c ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b · 26c
SP1:
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ABR Gene

GeneLoc Exon Structure for
ABR
ECgene alternative splicing isoforms for
ABR

Expression for ABR Gene

mRNA expression in normal human tissues for ABR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABR Gene

This gene is overexpressed in Heart (13.8), Bone marrow stromal cell (8.6), Lymph node (7.1), and Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABR Gene



Protein tissue co-expression partners for ABR Gene

NURSA nuclear receptor signaling pathways regulating expression of ABR Gene:

ABR

SOURCE GeneReport for Unigene cluster for ABR Gene:

Hs.159306

mRNA Expression by UniProt/SwissProt for ABR Gene:

Q12979-ABR_HUMAN
Tissue specificity: Highly enriched in the brain. Much weaker expression in heart, lung and muscle.
genes like me logo Genes that share expression patterns with ABR: view

Primer Products

No data available for mRNA differential expression in normal tissues for ABR Gene

Orthologs for ABR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABR 34
  • 93.67 (n)
  • 98.84 (a)
ABR 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABR 34
  • 93.06 (n)
  • 97.66 (a)
ABR 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abr 34
  • 91.42 (n)
  • 98.72 (a)
Abr 16
Abr 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abr 34
  • 91.54 (n)
  • 98.49 (a)
oppossum
(Monodelphis domestica)
Mammalia ABR 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABR 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABR 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC771897 34
  • 85.88 (n)
  • 94.06 (a)
ABR 35
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABR 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abr 34
  • 77.59 (n)
  • 86.82 (a)
zebrafish
(Danio rerio)
Actinopterygii ABR (1 of 2) 35
  • 80 (a)
OneToMany
ABR (2 of 2) 35
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP1A 36
  • 35 (a)
RhoGAP1A 34
  • 48.43 (n)
  • 38.54 (a)
RhoGAP1A 35
  • 18 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000865 34
  • 52.8 (n)
  • 39.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BEM2 35
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
Species where no ortholog for ABR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABR Gene

ENSEMBL:
Gene Tree for ABR (if available)
TreeFam:
Gene Tree for ABR (if available)

Paralogs for ABR Gene

Paralogs for ABR Gene

Pseudogenes.org Pseudogenes for ABR Gene

genes like me logo Genes that share paralogs with ABR: view

Variants for ABR Gene

Sequence variations from dbSNP and Humsavar for ABR Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs34169260 - 1,056,046(-) ATTTA(A/G)GCAAT nc-transcript-variant, reference, missense
rs733789 -- 1,044,600(+) GAGCC(A/G)AGATT intron-variant, downstream-variant-500B
rs733790 -- 1,044,616(+) ATTGC(A/C)CTCCA intron-variant, downstream-variant-500B
rs733791 -- 1,044,819(+) TCCTC(C/T)AGAAC intron-variant, downstream-variant-500B
rs734894 -- 1,045,714(+) GTGTG(C/T)ACGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABR Gene

Variant ID Type Subtype PubMed ID
dgv1399n106 CNV deletion 24896259
dgv1400n106 CNV duplication 24896259
dgv1401n106 CNV insertion 24896259
dgv1678e59 CNV duplication 20981092
dgv169e215 CNV deletion 23714750
dgv172n21 CNV gain 19592680
dgv3079n100 CNV gain 25217958
dgv3080n100 CNV gain 25217958
dgv3081n100 CNV gain 25217958
dgv398e201 CNV deletion 23290073
dgv399e201 CNV deletion 23290073
dgv5404n54 CNV loss 21841781
dgv5405n54 CNV gain 21841781
dgv5406n54 CNV loss 21841781
dgv5407n54 CNV gain+loss 21841781
dgv5408n54 CNV loss 21841781
dgv5409n54 CNV gain 21841781
dgv5410n54 CNV loss 21841781
dgv5411n54 CNV gain 21841781
dgv5412n54 CNV loss 21841781
dgv5413n54 CNV loss 21841781
dgv5414n54 CNV loss 21841781
dgv5415n54 CNV gain 21841781
dgv5416n54 CNV gain+loss 21841781
dgv5417n54 CNV loss 21841781
dgv5420n54 CNV loss 21841781
dgv876e212 CNV loss 25503493
esv1000862 CNV gain 20482838
esv1006959 CNV deletion 20482838
esv1047214 CNV deletion 17803354
esv1166537 CNV deletion 17803354
esv1186091 CNV deletion 17803354
esv1217319 CNV deletion 17803354
esv1222301 CNV deletion 17803354
esv1238522 CNV insertion 17803354
esv1325308 CNV deletion 17803354
esv1484555 CNV deletion 17803354
esv1538715 CNV deletion 17803354
esv1591179 CNV deletion 17803354
esv1621176 CNV insertion 17803354
esv1625487 CNV deletion 17803354
esv1716224 CNV deletion 17803354
esv1989797 CNV deletion 18987734
esv2108115 CNV deletion 18987734
esv23900 CNV gain 19812545
esv2422420 CNV duplication 17116639
esv2436532 CNV insertion 19546169
esv2536141 CNV deletion 19546169
esv2620952 CNV deletion 19546169
esv2657320 CNV deletion 23128226
esv2674650 CNV deletion 23128226
esv2675057 CNV deletion 23128226
esv2676172 CNV deletion 23128226
esv27069 CNV gain+loss 19812545
esv2715404 CNV deletion 23290073
esv2715405 CNV deletion 23290073
esv2715406 CNV deletion 23290073
esv2715408 CNV deletion 23290073
esv2715409 CNV deletion 23290073
esv2715410 CNV deletion 23290073
esv2715411 CNV deletion 23290073
esv2715412 CNV deletion 23290073
esv2715413 CNV deletion 23290073
esv2715414 CNV deletion 23290073
esv2715415 CNV deletion 23290073
esv2715416 CNV deletion 23290073
esv2715417 CNV deletion 23290073
esv2715419 CNV deletion 23290073
esv2715422 CNV deletion 23290073
esv2715423 CNV deletion 23290073
esv2715424 CNV deletion 23290073
esv2715425 CNV deletion 23290073
esv2715426 CNV deletion 23290073
esv2715427 CNV deletion 23290073
esv2715428 CNV deletion 23290073
esv2715430 CNV deletion 23290073
esv2715433 CNV deletion 23290073
esv2715435 CNV deletion 23290073
esv2715436 CNV deletion 23290073
esv2751769 CNV gain 17911159
esv27568 CNV gain+loss 19812545
esv2758673 CNV gain 17122850
esv27906 CNV gain 19812545
esv28651 CNV loss 19812545
esv29084 CNV loss 19812545
esv29687 CNV gain 19812545
esv29732 CNV loss 19812545
esv3170457 CNV deletion 24192839
esv3366205 CNV duplication 20981092
esv3553968 CNV deletion 23714750
esv3553974 CNV deletion 23714750
esv3572275 CNV gain 25503493
esv3582461 CNV loss 25503493
esv3582462 CNV loss 25503493
esv3582465 CNV loss 25503493
esv3582466 CNV loss 25503493
esv3625 CNV loss 18987735
esv3639665 CNV gain 21293372
esv3639668 CNV loss 21293372
esv3639669 CNV loss 21293372
esv3639670 CNV loss 21293372
esv3639671 CNV gain 21293372
esv3639672 CNV loss 21293372
esv3892946 CNV loss 25118596
esv988982 CNV loss 20482838
esv989468 CNV deletion 20482838
esv990684 CNV deletion 20482838
esv996479 CNV deletion 20482838
nsv1059578 CNV gain 25217958
nsv1064415 CNV gain 25217958
nsv1066149 CNV gain 25217958
nsv1070792 CNV deletion 25765185
nsv1070793 CNV deletion 25765185
nsv1078410 CNV duplication 25765185
nsv111824 CNV deletion 16902084
nsv1118744 CNV deletion 24896259
nsv111934 CNV deletion 16902084
nsv1121521 CNV deletion 24896259
nsv1121926 CNV deletion 24896259
nsv1138490 CNV deletion 24896259
nsv1138491 CNV deletion 24896259
nsv1140124 CNV deletion 24896259
nsv1143839 CNV deletion 24896259
nsv1145749 CNV duplication 26484159
nsv1151682 CNV deletion 26484159
nsv1152347 CNV deletion 26484159
nsv1941 CNV insertion 18451855
nsv1942 CNV deletion 18451855
nsv470566 CNV loss 18288195
nsv509644 CNV insertion 20534489
nsv511586 CNV gain 21212237
nsv515593 CNV loss 19592680
nsv524326 CNV loss 19592680
nsv525233 CNV loss 19592680
nsv574142 CNV gain 21841781
nsv574148 CNV loss 21841781
nsv574149 CNV loss 21841781
nsv574154 CNV gain+loss 21841781
nsv574158 CNV loss 21841781
nsv574165 CNV loss 21841781
nsv574194 CNV loss 21841781
nsv574199 CNV gain+loss 21841781
nsv574200 CNV gain 21841781
nsv820394 CNV deletion 20802225
nsv821454 CNV duplication 20802225
nsv827852 CNV gain 20364138
nsv833332 CNV loss 17160897
nsv833333 CNV loss 17160897
nsv9487 CNV loss 18304495
nsv9488 CNV gain+loss 18304495
nsv9489 CNV gain 18304495
nsv952095 CNV deletion 24416366
nsv952096 CNV deletion 24416366
nsv954556 CNV deletion 24416366
nsv954585 CNV deletion 24416366

Variation tolerance for ABR Gene

Residual Variation Intolerance Score: 6.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABR Gene

Disorders for ABR Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABR Gene - From: DISEASES

Disorder Aliases PubMed IDs
retroperitoneal neuroblastoma
- elite association - COSMIC cancer census association via MalaCards
Search ABR in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABR

Genetic Association Database (GAD)
ABR
Human Genome Epidemiology (HuGE) Navigator
ABR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABR
genes like me logo Genes that share disorders with ABR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABR Gene

Publications for ABR Gene

  1. Abr and Bcr are multifunctional regulators of the Rho GTP-binding protein family. (PMID: 7479768) Chuang T.H. … Bokoch G.M. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 22 65
  2. The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins. (PMID: 8262969) Tan E.-C. … Lim L. (J. Biol. Chem. 1993) 3 4 22 65
  3. ABR, an active BCR-related gene. (PMID: 2587217) Heisterkamp N. … Groffen J. (Nucleic Acids Res. 1989) 2 3 4 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for ABR Gene

Sources for ABR Gene

Content