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Aliases for ABR Gene

Aliases for ABR Gene

  • Active BCR-Related 2 3 5
  • 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 p75 NTR receptor-mediated signalling and Signaling by Rho GTPases. GO annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is CHN1.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for ABR Gene at MOPED

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:0005096 GTPase activator activity IEA,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

miRNA for ABR Gene

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: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:0007165 signal transduction IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menthol Approved Pharma Partial agonist, Activator 2080
Chloral hydrate Experimental, Illicit Pharma 14
Guanosine triphosphate Experimental Pharma 0
Central Nervous System Depressants Pharma 12017
Hypnotics and Sedatives Pharma 2338
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:

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, MOPED, and MaxQB for ABR Gene



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

Protein tissue co-expression partners for ABR Gene

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 35
  • 93.67 (n)
  • 98.84 (a)
ABR 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABR 35
  • 93.06 (n)
  • 97.66 (a)
ABR 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abr 35
  • 91.42 (n)
  • 98.72 (a)
Abr 16
Abr 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abr 35
  • 91.54 (n)
  • 98.49 (a)
oppossum
(Monodelphis domestica)
Mammalia ABR 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABR 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABR 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC771897 35
  • 85.88 (n)
  • 94.06 (a)
ABR 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABR 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abr 35
  • 77.59 (n)
  • 86.82 (a)
zebrafish
(Danio rerio)
Actinopterygii ABR (1 of 2) 36
  • 80 (a)
OneToMany
ABR (2 of 2) 36
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP1A 37
  • 35 (a)
RhoGAP1A 35
  • 48.43 (n)
  • 38.54 (a)
RhoGAP1A 36
  • 18 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000865 35
  • 52.8 (n)
  • 39.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BEM2 36
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for ABR:
  • 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
rs920749 -- 1,104,300(+) GAACA(A/G)TGTCT intron-variant
rs920750 -- 1,075,413(+) AAACC(C/T)GATAG intron-variant
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

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

Variant ID Type Subtype PubMed ID
esv2422420 CNV Duplication 17116639
dgv925e1 CNV Complex 17122850
esv673 CNV CNV 17122850
dgv172n21 CNV Gain 19592680
esv2751769 CNV Gain 17911159
essv3392 CNV CNV 17122850
dgv3021n71 CNV Loss 21882294
dgv3022n71 CNV Loss 21882294
essv8 CNV CNV 17122850
nsv827852 CNV Gain 20364138
nsv907472 CNV Loss 21882294
dgv3023n71 CNV Loss 21882294
dgv3024n71 CNV Loss 21882294
nsv470566 CNV Loss 18288195
dgv3025n71 CNV Loss 21882294
dgv3026n71 CNV Loss 21882294
nsv907487 CNV Gain 21882294
nsv907489 CNV Loss 21882294
esv2715404 CNV Deletion 23290073
nsv524326 CNV Loss 19592680
esv1325308 CNV Deletion 17803354
esv2715405 CNV Deletion 23290073
nsv525233 CNV Loss 19592680
nsv9487 CNV Loss 18304495
esv2674650 CNV Deletion 23128226
nsv509644 CNV Insertion 20534489
nsv907491 CNV Loss 21882294
esv2715406 CNV Deletion 23290073
dgv435e201 CNV Deletion 23290073
esv2715408 CNV Deletion 23290073
nsv1941 CNV Insertion 18451855
esv3625 CNV Deletion 18987735
esv2715409 CNV Deletion 23290073
esv1621176 CNV Insertion 17803354
nsv1942 CNV Loss 18451855
esv2715410 CNV Deletion 23290073
esv2715411 CNV Deletion 23290073
esv2715412 CNV Deletion 23290073
nsv111824 CNV Loss 16902084
esv2676172 CNV Deletion 23128226
esv2715413 CNV Deletion 23290073
nsv511586 CNV Gain 21212237
esv27069 CNV Gain+Loss 19812545
esv1000862 CNV Gain 20482838
esv1625487 CNV Deletion 17803354
esv2715414 CNV Deletion 23290073
esv2108115 CNV Deletion 18987734
esv989468 CNV Deletion 20482838
esv1591179 CNV Deletion 17803354
esv2715415 CNV Deletion 23290073
nsv833332 CNV Loss 17160897
esv990684 CNV Deletion 20482838
nsv9488 CNV Gain+Loss 18304495
nsv821454 CNV Duplication 20802225
esv2620952 CNV Deletion 19546169
esv1006959 CNV Deletion 20482838
esv988982 CNV Loss 20482838
esv1538715 CNV Deletion 17803354
esv1484555 CNV Deletion 17803354
esv2715416 CNV Deletion 23290073
esv996479 CNV Deletion 20482838
esv1222301 CNV Deletion 17803354
esv27906 CNV Gain 19812545
nsv833333 CNV Loss 17160897
nsv907492 CNV Loss 21882294
nsv9489 CNV Gain 18304495
esv2715417 CNV Deletion 23290073
esv2715419 CNV Deletion 23290073
nsv820394 CNV Deletion 20802225
esv23900 CNV Gain 19812545
esv2405073 CNV Deletion 18987734
nsv512464 CNV Loss 21212237
esv1093276 CNV Deletion 17803354
esv1759998 CNV Deletion 17803354
esv2715420 CNV Deletion 23290073
esv1166537 CNV Deletion 17803354
esv1238522 CNV Insertion 17803354
esv1302409 CNV Insertion 17803354
esv1128209 CNV Insertion 17803354
esv1376126 CNV Insertion 17803354
esv2715421 CNV Deletion 23290073
esv1006512 CNV Deletion 20482838
esv29732 CNV Loss 19812545
esv2536141 CNV Deletion 19546169
esv2675057 CNV Deletion 23128226
esv1716224 CNV Deletion 17803354
esv2715422 CNV Deletion 23290073
esv2715423 CNV Deletion 23290073
esv1047214 CNV Deletion 17803354
esv2715424 CNV Deletion 23290073
esv29084 CNV Loss 19812545
esv2715425 CNV Deletion 23290073
esv2715426 CNV Deletion 23290073
esv2715427 CNV Deletion 23290073
esv2715428 CNV Deletion 23290073
esv2657320 CNV Deletion 23128226
esv2715430 CNV Deletion 23290073
esv28651 CNV Loss 19812545
nsv111934 CNV Loss 16902084
esv2715431 CNV Deletion 23290073
dgv436e201 CNV Deletion 23290073
esv27568 CNV Gain+Loss 19812545
esv2715433 CNV Deletion 23290073
esv1989797 CNV Deletion 18987734
esv29687 CNV Gain 19812545
esv1217319 CNV Deletion 17803354
nsv907493 CNV Loss 21882294
nsv907494 CNV Loss 21882294
esv2715435 CNV Deletion 23290073
esv2715436 CNV Deletion 23290073
esv2436532 CNV Insertion 19546169
esv1186091 CNV Deletion 17803354
nsv515593 CNV Loss 19592680

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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, an active BCR-related gene. (PMID: 2587217) Heisterkamp N. … Groffen J. (Nucleic Acids Res. 1989) 2 3 4 67
  2. 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 23
  3. Yeast two-hybrid screening for proteins that interact with alpha1-adrenergic receptors. (PMID: 15525470) Zhang T. … Zhang Y.Y. (Acta Pharmacol. Sin. 2004) 3 23
  4. 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 23
  5. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. (PMID: 25476789) Galligan J.T. … Howley P.M. (J. Proteome Res. 2015) 3

Products for ABR Gene

Sources for ABR Gene

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