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ABR Gene

protein-coding   GIFtS: 66
GCID: GC17M000907

Active BCR-Related

(Previous name: active BCR-related gene)
  See ABR-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Active BCR-Related1 2
Active BCR-Related Gene1
MDB2
Active Breakpoint Cluster Region-Related Protein2

External Ids:    HGNC: 811   Entrez Gene: 292   Ensembl: ENSG000001598427   OMIM: 6003655   UniProtKB: Q129793   

Export aliases for ABR gene to outside databases

Previous GC identifers: GC17M001004 GC17M001165 GC17M000861 GC17M000891 GC17M000853 GC17M000813


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 enamel erosion. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is SYDE2.

UniProtKB/Swiss-Prot: ABR_HUMAN, Q12979
Function: GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP,
thereby activating them




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NT_187613.1  NC_018928.2  NT_187664.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABR gene promoter:
         NF-1   AP-1   Pax-5   GATA-3   RREB-1   NF-kappaB   E47   Roaz   Ik-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABR promoter sequence
   Search Chromatin IP Primers for ABR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13

ABR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABR gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M000907:  view genomic region     (about GC identifiers)

Start:
906,758 bp from pter      End:
1,132,315 bp from pter
Size:
225,558 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ABR_HUMAN, Q12979 (See protein sequence)
Recommended Name: Active breakpoint cluster region-related protein  
Size: 859 amino acids; 97598 Da
Sequence caution: Sequence=AAC37518.1; Type=Erroneous initiation;
Secondary accessions: B3KW89 B7Z6H7 D3DTH3 D3DTH4 F5H3S2 F5H8B3 Q13693 Q13694
Alternative splicing: 4 isoforms:  Q12979-1   Q12979-2   Q12979-3   Q12979-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABR: NX_Q12979

Explore proteomics data for ABR at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ABR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001083.2  NP_001153218.1  NP_001243776.1  NP_001269078.1  NP_068781.2  

    ENSEMBL proteins: 
     ENSP00000303909   ENSP00000442048   ENSP00000459553   ENSP00000461795   ENSP00000461565  
     ENSP00000291107   ENSP00000445198   ENSP00000437429   ENSP00000460937   ENSP00000460248  
     ENSP00000458294   ENSP00000459118   ENSP00000459820   ENSP00000460770   ENSP00000461629  
     ENSP00000459761   ENSP00000459406  
    Reactome Protein details: Q12979

    ABR Human Recombinant Protein Products:

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    OriGene MassSpec for ABR
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    Novus Biologicals ABR Proteins
    Novus Biologicals ABR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABR

     
    Search eBioscience for Proteins for ABR 

     
    antibodies-online proteins for ABR (4 products) 

     
    antibodies-online peptides for ABR

    ABR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ABR
    Cloud-Clone Corp. Antibodies for ABR
    ThermoFisher Antibodies for ABR
    antibodies-online antibodies for ABR (5 products) 

    ABR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ABR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABR
    Cloud-Clone Corp. CLIAs for ABR
    Search eBioscience for ELISAs for ABR 
    antibodies-online kits for ABR (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 7):
     IPR001331 GDS_CDC24_CS
     IPR000219 DH-domain
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q12979

    ProtoNet protein and cluster: Q12979

    4 Blocks protein domains:
    IPB000008 C2 domain
    IPB000198 RhoGAP domain
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ABR_HUMAN, Q12979
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain


    Find genes that share domains with ABR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABR_HUMAN, Q12979
    Function: GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP,
    thereby activating them

         Genatlas biochemistry entry for ABR:
    BCR-related gene,active

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity TAS8262969
    GO:0005515protein binding ----
    GO:0030675Rac GTPase activator activity IEA--
         
    Find genes that share ontologies with ABR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ABR:
     Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abr):
     behavior/neurological  cellular  hearing/vestibular/ear  mortality/aging  nervous system 
     normal 

    Find genes that share phenotypes with ABR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abrtm1Jhg for ABR

       genOway: Develop your customized and physiologically relevant rodent model for ABR

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABR:
    hsa-mir-877-3p (MIRT037178), hsa-mir-92b-3p (MIRT040702), hsa-mir-93-3p (MIRT038901), hsa-mir-18a-5p (MIRT050728)

    Block miRNA regulation of human, mouse, rat ABR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABR (see all 60):
    hsa-miR-520f hsa-miR-374a hsa-miR-624 hsa-miR-449a hsa-miR-766 hsa-miR-507 hsa-miR-4267 hsa-miR-4314
    SwitchGear 3'UTR luciferase reporter plasmidABR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABR
    Predesigned siRNA for gene silencing in human, mouse, rat ABR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABR

    Clone
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    OriGene clones in human, mouse for ABR (see all 18)
    OriGene ORF clones in mouse, rat for ABR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ABR (NM_001092)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABR
    Addgene plasmids for ABR 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ABR 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with ABR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABR About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    4Signaling by FGFR
    Signalling by NGF0.71
    5Regulation of RhoA activity
    Regulation of RhoA activity


    Find genes that share SuperPaths with ABR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for ABR
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling Rac2 regulation pathway
    G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for ABR
        Regulation of RhoA activity
    Regulation of RAC1 activity

    3 Reactome Pathways for ABR
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABR
    Interactions:

        GeneGlobe Interaction Network for ABR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABR (Q129792, 3 ENSP000003039094) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110008 I2D: score=3 STRING: ENSP00000361423
    ADRA1AP353483, ENSP000003699604I2D: score=2 STRING: ENSP00000369960
    DLG4P783523I2D: score=1 
    ERBB2IPQ96RT13I2D: score=1 
    RAC1ENSP000003484614STRING: ENSP00000348461
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007420brain development IEA--
    GO:0030036actin cytoskeleton organization IEA--
    GO:0030336negative regulation of cell migration IEA--

    Find genes that share ontologies with ABR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABR

    1 HMDB Compound for ABR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABR gene (5 alternative transcripts): 
    NM_001092.4  NM_001159746.2  NM_001256847.2  NM_001282149.1  NM_021962.4  

    Unigene Cluster for ABR:

    Active BCR-related
    Hs.159306  [show with all ESTs]
    Unigene Representative Sequence: NM_001159746
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 36):
    ENST00000302538(uc002fsg.3 uc002fsd.3 uc010vqf.2 uc010vqg.2)
    ENST00000572585(uc002fsf.3) ENST00000544583(uc002fse.3) ENST00000572441
    ENST00000571797 ENST00000574437(uc010cjq.1) ENST00000291107(uc002fsh.1)
    ENST00000543210 ENST00000536794 ENST00000573559 ENST00000572650 ENST00000570688
    ENST00000571120 ENST00000571383 ENST00000571022 ENST00000572152 ENST00000577052
    ENST00000574257
    miRNA
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    Block miRNA regulation of human, mouse, rat ABR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABR (see all 60):
    hsa-miR-520f hsa-miR-374a hsa-miR-624 hsa-miR-449a hsa-miR-766 hsa-miR-507 hsa-miR-4267 hsa-miR-4314
    SwitchGear 3'UTR luciferase reporter plasmidABR 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ABR
    Predesigned siRNA for gene silencing in human, mouse, rat ABR
    Clone
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    OriGene clones in human, mouse for ABR (see all 18)
    OriGene ORF clones in mouse, rat for ABR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ABR (NM_001092)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABR
    Addgene plasmids for ABR 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ABR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABR
      QuantiTect SYBR Green Assays in human, mouse, rat ABR
      QuantiFast Probe-based Assays in human, mouse, rat ABR

    Additional mRNA sequence: 

    AK094544.1 AK124547.1 AK126882.1 AK127851.1 AK295191.1 AK299909.1 AK300336.1 AK302682.1 
    AK307827.1 BC036807.1 BC141909.1 NR_046393.1 U01147.1 

    Selected DOTS entries (see all 31):

    DT.100823853  DT.447953  DT.75158696  DT.91663692  DT.100823849  DT.101983066  DT.95322120  DT.120923855 
    DT.95128180  DT.100713715  DT.91755209  DT.95128181  DT.95128228  DT.95241963  DT.100823854  DT.70104519 
    DT.91873378  DT.95253875  DT.100823848  DT.120923803  DT.120923882  DT.120923884  DT.65285398  DT.91662665 

    Selected AceView cDNA sequences (see all 457):

    BU543503 BG251101 BM127505 CA393358 BF433629 BM669024 BU948232 CA396411 
    BM673019 BM827672 BQ437661 AI672882 AI363478 BM466711 NM_021962 AL698727 
    BU731966 BQ015300 BU185572 CF138424 BM693670 BF725311 BF924961 AW938840 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABR (see all 12)    About this scheme

    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:                                                                                                                                                            

    ExUns: 21c ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b · 26c
    SP1:                                                                              
    SP2:        -                 -                                                   
    SP3:                                                                              
    SP4:                                                                              
    SP5:                          -                                                   


    ECgene alternative splicing isoforms for ABR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATCTGAC
    ABR Expression
    About this image


    ABR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Bone (Muscoskeletal System)
             Rib
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
    ABR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159306

    UniProtKB/Swiss-Prot: ABR_HUMAN, Q12979
    Tissue specificity: Highly enriched in the brain. Much weaker expression in heart, lung and muscle

        Custom PCR Arrays for ABR
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABR
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    QuantiFast Probe-based Assays in human, mouse, rat ABR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABR gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abr1 , 5 active BCR-related gene1, 5 91.42(n)1
    98.72(a)1
      11 (45.92 cM)5
    1099341  NM_198895.11  NP_942598.11 
     764167345 
    chicken
    (Gallus gallus)
    Aves LOC7718971 active breakpoint cluster region-related protein-like 85.88(n)
    94.06(a)
      771897  XM_004946646.1  XP_004946703.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABR6
    active BCR-related
    91(a)
    1 ↔ 1
    AAWZ02041954(1310-4762)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042307.12   -- 77.6(n)    BC042307.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ABR (2 of 2)6
    ABR (1 of 2)6
    active BCR-related
    81(a)
    80(a)
    1 ↔ many
    1 ↔ many
    5(65671766-65703084) ENSDARG00000095180
    5(65553616-65606596) ENSDARG00000059587
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP1A1 , 3 GTPase activator3
    RhoGAP1A1
    35(a)3
    48.43(n)1
    38.54(a)1
      1A3
    57402351  NM_001103385.21  NP_001096855.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BEM26
    Rho GTPase activating protein (RhoGAP) involved in...
    9(a)
    1 → many
    V(476345-482848) YER155C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABR gene
    SYDE22  RACGAP12  SYDE12  BCR2  
    16 SIMAP similar genes for ABR using alignment to 13 protein entries:     ABR_HUMAN (see all proteins):
    BCR/ABL    BCR/ABL fusion    BCR-ABL1 e19a2    BCR-ABL1    BCR    BCR-ABL fusion
    ARHGAP12    ARHGAP5    CHN1    ARHGAP44    ARHGAP31    FAM13A
    CHN2    ARHGAP21    ARHGAP9    HMHA1

    Find genes that share paralogs with ABR           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ABR
    PGOHUM00000259688


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ABR (see all 5918)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs72194581,2
    C,F,A,H--906268(+) TGCTTT/CGGCTG 5 -- ds500126Minor allele frequency- C:0.23NS EA NA WA CSA 2355
    rs1902899681,2
    --906370(+) GCTGCA/CTCAAA 5 -- ds50010--------
    rs1833892201,2
    --906398(+) GAAAGC/GGTAGA 5 -- ds50010--------
    rs1499194061,2
    C--906441(+) TCAGTG/TGACAA 5 -- ds50010--------
    rs1887933751,2
    --906555(+) GGAGGC/TCTTTG 5 -- ds50010--------
    rs1929480161,2
    --906574(+) AAGGAA/GAGGGC 5 -- ds50010--------
    rs1450067401,2
    --906731(+) CCACCA/GCGAAC 5 -- ds50010--------
    rs1839147151,2
    --906974(+) AAGAAC/TAGGCA 5 -- ut31 nc-transcript-variant0--------
    rs1149342631,2
    F--906984(+) AGACCT/CGGCGT 5 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.02WA 118
    rs1180088861,2
    C,F--906987(+) CCTGGC/GGTTTC 5 -- ut31 nc-transcript-variant1Minor allele frequency- G:0.03EA 120

    HapMap Linkage Disequilibrium report for ABR (906758 - 1132315 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABR (see all 113):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657320CNV Deletion23128226
    dgv436e201CNV Deletion23290073
    esv2620952CNV Deletion19546169
    esv1217319CNV Deletion17803354
    esv2715404CNV Deletion23290073
    esv2715405CNV Deletion23290073
    esv1484555CNV Deletion17803354
    esv2715436CNV Deletion23290073
    esv1047214CNV Deletion17803354
    esv996479CNV Deletion20482838

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABR
    DNA2.0 Custom Variant and Variant Library Synthesis for ABR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600365    OMIM disorders: --

    1 disease for ABR:    
    About MalaCards
    enamel erosion

    1 disease from the University of Copenhagen DISEASES database for ABR:
    Enamel erosion

    Find genes that share disorders with ABR           About GenesLikeMe

    Genetic Association Database (GAD): ABR
    Human Genome Epidemiology (HuGE) Navigator: ABR (5 documents)

    Export disorders for ABR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABR gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with ABR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ABR, an active BCR-related gene. (PubMed id 2587217)1, 2, 3 Heisterkamp N.... Groffen J. (Nucleic Acids Res. 1989)
    2. Abr and Bcr are multifunctional regulators of the Rho GTP-binding protein family. (PubMed id 7479768)1, 3, 9 Chuang T.H....Bokoch G.M. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    3. The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins. (PubMed id 8262969)1, 2, 9 Tan E.-C.... Lim L. (J. Biol. Chem. 1993)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Human ABR encodes a protein with GAPrac activity and homology to the DBL nucleotide exchange factor domain. (PubMed id 8349582)1, 2 Heisterkamp N.... Groffen J. (J. Biol. Chem. 1993)
    7. Yeast two-hybrid screening for proteins that interact with alpha1-adrenergic receptors. (PubMed id 15525470)1, 9 Zhang T....Zhang Y.Y. (Acta Pharmacol. Sin. 2004)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (J. Proteome Res. 2012)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29 HGNC: 81 AceView: ABR Ensembl:ENSG00000159842 euGenes: HUgn29
    ECgene: ABR H-InvDB: ABR

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ABR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABR Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABR gene:
    Search GeneIP for patents involving ABR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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