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

ARHGEF12 Gene

protein-coding   GIFtS: 68
GCID: GC11P120207

Rho Guanine Nucleotide Exchange Factor (GEF) 12

  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
Rho Guanine Nucleotide Exchange Factor (GEF) 121 2     PRO27922
LARG2 3 5     Leukemia-Associated Rho Guanine Nucleotide Exchange Factor2
Leukemia-Associated RhoGEF2 3     Rho Guanine Nucleotide Exchange Factor 122
KIAA03823 5     

External Ids:    HGNC: 141931   Entrez Gene: 233652   Ensembl: ENSG000001969147   OMIM: 6047635   UniProtKB: Q9NZN53   

Export aliases for ARHGEF12 gene to outside databases

Previous GC identifers: GC11P122207 GC11P121719 GC11P120241 GC11P119745 GC11P119712 GC11P116148


(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 ARHGEF12 Gene:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli
working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate
Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid
leukemia. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,
Nov 2010)

GeneCards Summary for ARHGEF12 Gene: 
ARHGEF12 (Rho guanine nucleotide exchange factor (GEF) 12) is a protein-coding gene. Diseases associated with ARHGEF12 include shwachman-diamond syndrome, and leukemia, and among its related super-pathways are NRAGE signals death through JNK and Ras Pathway. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF2.

UniProtKB/Swiss-Prot: ARHGC_HUMAN, Q9NZN5
Function: May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and
alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as
GTPase-activating protein (GAP) for GNA12 and GNA13

Gene Wiki entry for ARHGEF12 Gene


(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_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARHGEF12 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGEF12 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARHGEF12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF12


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

ARHGEF12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF12 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P120207:  view genomic region     (about GC identifiers)

Start:
120,207,618 bp from pter      End:
120,360,645 bp from pter
Size:
153,028 bases      Orientation:
plus 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: ARHGC_HUMAN, Q9NZN5 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 12  
Size: 1544 amino acids; 173232 Da
Subunit: Interacts with GNA12 and GNA13, probably through the RGS-like domain. Interacts with RHOA, PLXNB1 and
PLXNB2. Interacts through its PDZ domain with IGF1R beta subunit. Interacts with GCSAM
Subcellular location: Cytoplasm (Probable). Membrane (Probable). Note=Translocated to the membrane upon
stimulation (Probable)
Sequence caution: Sequence=AAH63117.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
4 PDB 3D structures from and Proteopedia for ARHGEF12:
1TXD (3D)        1X86 (3D)        2OMJ (3D)        2OS6 (3D)    
Secondary accessions: O15086 Q6P526
Alternative splicing: 2 isoforms:  Q9NZN5-1   Q9NZN5-2   (Contains a phosphoserine at position 41)

Explore the universe of human proteins at neXtProt for ARHGEF12: NX_Q9NZN5

Explore proteomics data for ARHGEF12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZN5

  • ARHGEF12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGEF12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001185594.1  NP_056128.1  

    ENSEMBL proteins: 
     ENSP00000380942   ENSP00000432984   ENSP00000349056  
    Reactome Protein details: Q9NZN5
    Human Recombinant Protein Products for ARHGEF12: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARHGEF12 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15755723
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    ARHGEF12 for ontologies           About GeneDecksing



    ARHGEF12 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARHGEF: Rho guanine nucleotide exchange factors

    5/8 InterPro protein domains (see all 8):
     IPR001331 GDS_CDC24_CS
     IPR015212 Regulat_G_prot_signal-like
     IPR001478 PDZ
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q9NZN5

    ProtoNet protein and cluster: Q9NZN5

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001478 PDZ/DHR/GLGF domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHGC_HUMAN, Q9NZN5
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 RGSL (RGS-like) domain


    ARHGEF12 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: ARHGC_HUMAN, Q9NZN5
    Function: May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and
    alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as
    GTPase-activating protein (GAP) for GNA12 and GNA13

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IDA15755723
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI11724822
    GO:0005543phospholipid binding IEA--
         
    ARHGEF12 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ARHGEF12:
     Decreased focal adhesion (FA)   Decreased p24 protein expressi  Increased S DNA content  Upregulation of Wnt/beta-caten 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Arhgef12):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     immune system  mortality/aging  muscle  nervous system 

    ARHGEF12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ARHGEF12: Arhgef12tm1Soff Arhgef12tm1Sgkd

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARHGEF12 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGEF12 
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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 ARHGEF12 About   (see all 32)                                                                                              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
    2GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    GPCR Pathway0.62
    Breast Cancer Regulation by Stathmin10.58
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    4G-AlphaQ Signaling
    G-AlphaQ Signaling0.47
    Thrombin Signaling0.40
    G-AlphaI Signaling0.47
    5Sema4D in semaphorin signaling
    Sema4D in semaphorin signaling0.89
    Semaphorin interactions0.41
    Sema4D induced cell migration and growth-cone collapse0.89

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for ARHGEF12
        G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Neurophysiological process Receptor-mediated axon growth repulsion
    G-protein signaling G-Protein alpha-q signaling cascades
    G-protein signaling G-Protein alpha-12 signaling pathway
    G-protein signaling RhoA regulation pathway

    1 R&D Systems Pathway for ARHGEF12
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    5/22 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARHGEF12 (see all 22)
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    Semaphorin Signaling
    Interferon Pathway

    5 GeneGo (Thomson Reuters) Pathways for ARHGEF12
        Neurophysiological process Receptor-mediated axon growth repulsion
    G-protein signaling G-Protein alpha-q signaling cascades
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling RhoA regulation pathway
    G-protein signaling G-Protein alpha-12 signaling pathway

    1 BioSystems Pathway for ARHGEF12
        Regulation of RhoA activity

    5/15        Reactome Pathways for ARHGEF12 (see all 15)
        GPCR downstream signaling
    Signaling by Rho GTPases
    Developmental Biology
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE


    5         Kegg Pathways  (Kegg details for ARHGEF12):
        Vascular smooth muscle contraction
    Axon guidance
    Regulation of actin cytoskeleton
    Tuberculosis
    Proteoglycans in cancer


    ARHGEF12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARHGEF12

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

    5/31 Interacting proteins for ARHGEF12 (Q9NZN52, 3 ENSP000003809424) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615862, 3, ENSP000004001754MINT-7949974 I2D: score=5 STRING: ENSP00000400175
    IGF1RP080692, 3, ENSP000002680354MINT-1774956 MINT-1774857 MINT-1774918 MINT-1774802 MINT-1774883 MINT-1774936 MINT-1774976 I2D: score=3 STRING: ENSP00000268035
    PLXNB1O431573, ENSP000002964404I2D: score=3 STRING: ENSP00000296440
    CUL3Q136183, ENSP000002644144I2D: score=1 STRING: ENSP00000264414
    LPAR2Q9HBW03, ENSP000003846654I2D: score=1 STRING: ENSP00000384665
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway IDA15755723
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007411axon guidance TAS--
    GO:0035023regulation of Rho protein signal transduction IEA--
    GO:0035556intracellular signal transduction ----

    ARHGEF12 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

    ARHGEF12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ARHGEF12 (ARHGC)

    3 HMDB Compounds for ARHGEF12    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    6 Novoseek inferred chemical compound relationships for ARHGEF12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 73 137 11373293 (9), 14513355 (7), 12515866 (6), 16644711 (6) (see all 25)
    gdp 53 1 14513355 (1)
    gtp 51.6 1 14513355 (1)
    tyrosine 33 6 11799111 (2), 12515866 (2), 19273616 (1)
    oligonucleotide 7.01 1 15143072 (1)
    calcium 0 1 16565089 (1)

    Search CenterWatch for drugs/clinical trials and news about ARHGEF12 / ARHGC

    (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 ARHGEF12 gene (2 alternative transcripts): 
    NM_001198665.1  NM_015313.2  

    Unigene Cluster for ARHGEF12:

    Rho guanine nucleotide exchange factor (GEF) 12
    Hs.24598  [show with all ESTs]
    Unigene Representative Sequence: NM_015313
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397843(uc021qrm.1 uc001pxl.2 uc009zat.3 uc009zau.1)
    ENST00000532993 ENST00000529970(uc010rzn.1) ENST00000530388 ENST00000528225
    ENST00000525960 ENST00000532823 ENST00000525222 ENST00000530747 ENST00000531616
    ENST00000526067 ENST00000528681 ENST00000356641
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    Additional mRNA sequence: 

    AB002380.2 AF090906.1 AF180681.1 AK294803.1 AK304316.1 AL080067.1 AL137456.1 BC016718.1 
    BC031784.1 BC063117.1 BX647785.1 BX648515.1 

    22 DOTS entries:

    DT.100735447  DT.453032  DT.100688036  DT.99937482  DT.70102520  DT.95153541  DT.95304734  DT.100688274 
    DT.75122045  DT.91683226  DT.100694644  DT.120698640  DT.95196175  DT.95304729  DT.99999404  DT.120698557 
    DT.40110111  DT.406771  DT.75155575  DT.91767532  DT.91767577  DT.120698572 

    24/371 AceView cDNA sequences (see all 371):

    BG431751 NM_015313 W60139 BG624003 AB002380 CR620894 H74200 N54747 
    BM456824 CB146295 AI056639 CD677775 BE882248 BU630600 AF180681 AI608892 
    BF593648 BX499977 BG387883 CR592713 AA863419 AI350124 H69692 BU734808 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                -                                                                             -                                             
    SP2:        -                       -                                                                             -                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                


    ECgene alternative splicing isoforms for ARHGEF12

    (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

    ARHGEF12 expression in normal human tissues (normalized intensities)      ARHGEF12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTTTACT
    ARHGEF12 Expression
    About this image


    ARHGEF12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow

    See ARHGEF12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF12

    SOURCE GeneReport for Unigene cluster: Hs.24598

    UniProtKB/Swiss-Prot: ARHGC_HUMAN, Q9NZN5
    Tissue specificity: Ubiquitously expressed. Isoform 2 is found in jejunum and testis

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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.

    Orthologs for ARHGEF12 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef121 , 5 Rho guanine nucleotide exchange factor (GEF) 121, 5 87.82(n)1
    89.37(a)1
      9 (24.14 cM)5
    696321  NM_027144.21  NP_081420.21 
     429638425 
    chicken
    (Gallus gallus)
    Aves ARHGEF121 Rho guanine nucleotide exchange factor (GEF) 12 72.81(n)
    73.1(a)
      419752  XM_417890.3  XP_417890.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGEF126
    Rho guanine nucleotide exchange factor (GEF) 12
    72(a)
    1 ↔ 1
    LGa(1404180-1482078)
    African clawed frog
    (Xenopus laevis)
    Amphibia Larg2 guanine nucleotide exchange factor 76.67(n)    AY211396.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5624551 rho guanine nucleotide exchange factor 12-like 59.64(n)
    56.73(a)
      562455  XM_003200044.1  XP_003200092.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGEF23 gastrulation diacylglycerol binding 37(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea F13E6.63 Tiam-1 like protein 37(a)   X(10733408-10738294)   --


    ENSEMBL Gene Tree for ARHGEF12 (if available)
    TreeFam Gene Tree for ARHGEF12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGEF12 gene
    ARHGEF22  ARHGEF112  AKAP132  ARHGEF182  ARHGEF282  ARHGEF12  ENSG000002688612  
    4 SIMAP similar genes for ARHGEF12 using alignment to 2 protein entries:     ARHGC_HUMAN (see all proteins):
    ARHGEF1    ARHGAP23    NET1    ARHGEF11

    ARHGEF12 for paralogs           About GeneDecksing



    (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

    10/2927 SNPs in ARHGEF12 are shown (see all 2927)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs125748651,2
    C,H--116153602(+) TTCTTC/TTGAGT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1387935581,2
    C--116153602(+) TTCTT-/TTGAG 
            
    TAAAA
    2 -- int10--------
    rs359524221,2
    C--116154761(+) CAGTA-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs729947071,2
    C,F--116233149(+) TTTTTG/TGGAGA 2 -- int15Minor allele frequency- T:0.50NA CSA 10
    rs790590461,2
    C--116257752(+) AATAAA/TAGAGT 2 -- int10--------
    rs2013627571,2
    --116257752(+) AATAA-/TAGAGTAA 2 -- int10--------
    rs1488601471,2
    C--120071714(+) AGCAAC/TAAAGA 2 -- us2k10--------
    rs730087181,2
    --120071755(+) TTTTTC/TCCCCC 2 -- us2k10--------
    rs1836410401,2
    --120071903(+) AGATTC/TGATTT 2 -- us2k10--------
    rs1880053421,2
    --120071972(+) AAAAGC/TCTGAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARHGEF12 (120207618 - 120360645 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ARHGEF12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676644CNV Deletion23128226
    nsv519CNV Insertion18451855
    nsv520CNV Insertion18451855
    nsv529003CNV Loss19592680
    esv6844CNV Gain19470904


    Human Gene Mutation Database (HGMD): ARHGEF12
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604763   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: ARHGC_HUMAN, Q9NZN5
  • Note=A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation
    t(11;11)(q23;23) with KMT2A/MLL1

  • 15 diseases for ARHGEF12:    About MalaCards
    shwachman-diamond syndrome    leukemia    acute myeloid leukemia    myeloid leukemia
    vascular disease    spasticity    acute leukemia    colorectal cancer
    prostate cancer    prostatitis    tuberculosis    squamous cell carcinoma
    adenocarcinoma    pancreatitis    breast cancer


    ARHGEF12 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for ARHGEF12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 19 6 11373293 (2), 15276214 (1), 19560536 (1)
    prostate cancer 0 1 15143072 (1)
    cancer 0 1 11373293 (1)

    Genetic Association Database (GAD): ARHGEF12
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF12 (7 documents)

    Export disorders for ARHGEF12 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 ARHGEF12 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with ARHGEF12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a gene at 11q23 encoding a guanine nucleotide exchange factor: evidence for its fusion with MLL in acute myeloid leukemia. (PubMed id 10681437)1, 2, 3 Kourlas P.J....Caligiuri M.A. (2000)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    3. Genetic variants in the leukemia-associated Rho guanine nucleotide exchange factor (ARHGEF12) gene are not associated with T2DM and related parameters in Caucasians (KORA study). (PubMed id 17766704)1, 4, 9 Holzapfel C....Illig T. (2007)
    4. A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo. (PubMed id 16644711)1, 4, 9 Kovacs P....Baier L.J. (2006)
    5. Direct interaction of insulin-like growth factor-1 receptor with leukemia-associated RhoGEF. (PubMed id 11724822)1, 2, 9 Taya S.... Kaibuchi K. (2001)
    6. Plexin B regulates Rho through the guanine nucleotide exchange factors leukemia-associated Rho GEF (LARG) and PDZ-RhoGEF. (PubMed id 12183458)1, 2, 9 Perrot V.... Gutkind J.S. (2002)
    7. Structural determinants of RhoA binding and nucleotide exchange in leukemia-associated Rho guanine-nucleotide exchange factor. (PubMed id 15331592)1, 2, 9 Kristelly R....Tesmer J.J. (2004)
    8. Conformational change upon ligand binding and dynamics of the PDZ domain from leukemia-associated Rho guanine nucleotide exchange factor. (PubMed id 18411422)1, 2, 9 Liu J....Shi Y. (2008)
    9. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (2010)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 23365 HGNC: 14193 AceView: ARHGEF12 Ensembl:ENSG00000196914 euGenes: HUgn23365
    ECgene: ARHGEF12 Kegg: 23365 H-InvDB: ARHGEF12

    (According to HUGE)
    About This Section
    HUGE: KIAA0382

    (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 ARHGEF12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARHGEF12 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 ARHGEF12 gene:
    Search GeneIP for patents involving ARHGEF12

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



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