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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABR Gene

protein-coding   GIFtS: 66
GCID: GC17M000907

Active BCR-Related

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 placenta praevia, and enamel erosion, and among its related super-pathways are NRAGE signals death through JNK and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGAP29.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12979

  • ABR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABR Protein Expression
    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
    Human Recombinant Protein Products for ABR: 
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    Novus Biologicals ABR Proteins
    Novus Biologicals ABR Lysates
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABR 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    ABR for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ABR 

    Assay Products for ABR: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABR 
    Cloud-Clone Corp. CLIAs for ABR


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

    5/9 InterPro protein domains (see all 9):
     IPR001331 GDS_CDC24_CS
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000219 DH-domain
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology

    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


    ABR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    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:0005543phospholipid binding IEA--
    GO:0030675Rac GTPase activator activity IEA--
         
    ABR for ontologies           About GeneDecksing


    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 

    ABR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abrtm1Jhg for ABR

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABR 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABR
    8/60 QIAGEN miScript miRNA 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:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ABR (NM_001092)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABR


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABR About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    4G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of RAC1 activity0.88
    5Signaling by FGFR
    Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for ABR
        G-protein signaling Regulation of CDC42 activity
    G-protein signaling Rac2 regulation pathway
    G-protein signaling Regulation of RAC1 activity


    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

    5/10        Reactome Pathways for ABR (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    ABR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABR

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for ABR (Q129792, 3 ENSP000003039094) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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): 5/18 biological process terms (GO ID links to tree view) (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--

    ABR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about ABR

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/36 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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    8/60 QIAGEN miScript miRNA 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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    Clone
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    Sirion Biotech Customized lentivirus for stable overexpression of ABR 
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    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 

    24/31 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 

    24/457 AceView cDNA sequences (see all 457):

    BF433629 BM669024 BM827672 BU948232 CA449290 CB305950 BQ678724 BM828124 
    AW576284 BM699403 BM150293 BU949424 CB152915 CA432957 BQ675513 BC036807 
    CA449816 BU726517 CB112365 BM810221 NM_001092 BM805077 BM464987 AI798961 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABR expression in normal human tissues (normalized intensities)      ABR embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             postcentral gyrus   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Rib
             bone marrow   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/naso-lacrimal duct   
     
     Blood (Hematopoietic System)
             bone marrow   

    See ABR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABR

    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

        SABiosciences Custom PCR Arrays for ABR
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    In Situ
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    (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)
    About This Section

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

    Orthologs for ABR gene from 8/19 species (see all 19)    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 85.91(n)
    94.06(a)
      771897  XM_003642408.1  XP_003642456.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ABR6
    Uncharacterized protein
    91(a)
    78(a)
    1 ↔ many
    1 ↔ many
    AAWZ02041954(1310-4762)
    AAWZ02041792(158-4889)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042307.12   -- 77.6(n)    BC042307.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ABR (1 of 2)6
    ABR (2 of 2)6
    (see all 3)
    active BCR-related
    (see all 3)
    80(a)
    79(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    5(65553616-65606596)
    5(65671766-65703084)
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP1A1 , 3 GTPase activator3
    CG40494-PA1
    35(a)3
    47.8(n)1
    37.31(a)1
      1A3
    57402351  NM_001103386.21  NP_001096856.11 
    worm
    (Caenorhabditis elegans)
    Secernentea syd-16
    Rho GTPase-activating protein syd-1
    10(a)
    1 → many
    II(7585731-7594912)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RGD16
    GTPase-activating protein (RhoGAP) for Rho3p and R...
    15(a)
    1 → many
    II(732639-734639)


    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)
    About This Section
    Paralogs for ABR gene
    ARHGAP292  SYDE22  HMHA12  RACGAP12  SYDE12  GMIP2  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

    ABR for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5918 SNPs in ABR are shown (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) 10/113 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

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

    8 diseases for ABR:    About MalaCards
    placenta praevia    enamel erosion    miller-dieker syndrome    lissencephaly
    medulloblastoma    intrahepatic cholangiocarcinoma    cholangiocarcinoma    gastric cancer

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

    ABR for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ABR gene, integrated from 9 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. (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. (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. (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. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (1993)
    7. Yeast two-hybrid screening for proteins that interact with alpha1-adrenergic receptors. (PubMed id 15525470)1, 9 Zhang T....Zhang Y.Y. (2004)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    9. Proteomics strategy to identify substrates of LNX, a P DZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (2012)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 29 HGNC: 81 AceView: ABR Ensembl:ENSG00000159842 euGenes: HUgn29
    ECgene: ABR H-InvDB: ABR

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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