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

ARHGEF38 Gene

protein-coding   GIFtS: 39
GCID: GC04P106474

Rho Guanine Nucleotide Exchange Factor (GEF) 38

  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) 381 2
Rho Guanine Nucleotide Exchange Factor 382

External Ids:    HGNC: 259681   Entrez Gene: 548482   Ensembl: ENSG000002366997   UniProtKB: Q9NXL23   

Export aliases for ARHGEF38 gene to outside databases

Previous GC identifer: GC04P102208


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

GeneCards Summary for ARHGEF38 Gene: 
ARHGEF38 (Rho guanine nucleotide exchange factor (GEF) 38) is a protein-coding gene. Diseases associated with ARHGEF38 include alcohol dependence, and spasticity. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF37.

UniProtKB/Swiss-Prot: ARH38_HUMAN, Q9NXL2
Function: May act as a guanine-nucleotide releasing factor (By similarity)




(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ARHGEF38
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ARHGEF38

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF38


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

ARHGEF38 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF38 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P106474:  view genomic region     (about GC identifiers)

Start:
106,473,777 bp from pter      End:
106,629,250 bp from pter
Size:
155,474 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: ARH38_HUMAN, Q9NXL2 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 38  
Size: 219 amino acids; 25507 Da
Secondary accessions: C9JIB4
Alternative splicing: 2 isoforms:  Q9NXL2-1   Q9NXL2-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ARHGEF38: NX_Q9NXL2

Explore proteomics data for ARHGEF38 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NXL2

  • ARHGEF38 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGEF38 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229658.1  NP_060170.1  

    ENSEMBL proteins: 
     ENSP00000265154   ENSP00000416125  

    Human Recombinant Protein Products for ARHGEF38: 
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    Cloud-Clone Corp. Proteins for ARHGEF38 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----

    ARHGEF38 for ontologies           About GeneDecksing



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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

    1 InterPro protein domain:
     IPR000219 DH-domain

    Graphical View of Domain Structure for InterPro Entry Q9NXL2

    ProtoNet protein and cluster: Q9NXL2

    UniProtKB/Swiss-Prot: ARH38_HUMAN, Q9NXL2
    Similarity: Contains 1 DH (DBL-homology) domain


    ARHGEF38 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: ARH38_HUMAN, Q9NXL2
    Function: May act as a guanine-nucleotide releasing factor (By similarity)

         Gene Ontology (GO): 2 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:0005515protein binding ----
         
    ARHGEF38 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGEF38 
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    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate ARHGEF38 (see all 24):
    hsa-miR-579 hsa-miR-448 hsa-let-7d hsa-miR-202 hsa-miR-139-5p hsa-miR-578 hsa-let-7c hsa-let-7g
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF38


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARHGEF38

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035023regulation of Rho protein signal transduction IEA--

    ARHGEF38 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 ARHGEF38 (ARH38)

    Search CenterWatch for drugs/clinical trials and news about ARHGEF38 / ARH38

    (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 ARHGEF38 gene (2 alternative transcripts): 
    NM_001242729.1  NM_017700.1  

    Unigene Clusters for ARHGEF38:

    Rho guanine nucleotide exchange factor (GEF) 38
    Hs.585224  [show with all ESTs], Hs.744739
    Unigene Representative Sequences: NM_001242729, AK125951
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265154(uc003hxu.3) ENST00000420470(uc003hxv.2) ENST00000506828
    ENST00000508036 ENST00000503289 ENST00000510406 ENST00000508961
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARHGEF38
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate ARHGEF38 (see all 24):
    hsa-miR-579 hsa-miR-448 hsa-let-7d hsa-miR-202 hsa-miR-139-5p hsa-miR-578 hsa-let-7c hsa-let-7g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ARHGEF38
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARHGEF38
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARHGEF38
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARHGEF38

    Additional mRNA sequence: AK125951.1 

    2 DOTS entries:

    DT.97833707  DT.70104064 

    7 AceView cDNA sequences:

    NM_017700 AK000191 BM765867 BX646643 BM764428 BM745286 BQ325238 

    GeneLoc Exon Structure


    (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

    ARHGEF38 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTCCTTTC
    ARHGEF38 Expression
    About this image


    See ARHGEF38 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF38

    SOURCE GeneReport for Unigene clusters: Hs.585224 Hs.744739
        SABiosciences Custom PCR Arrays for ARHGEF38
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    OriGene qSTAR qPCR primer pairs in human, mouse for ARHGEF38
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARHGEF38
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF38

    (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 ARHGEF38 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ARHGEF381 Rho guanine nucleotide exchange factor (GEF) 38 72.6(n)
    71.81(a)
      428744  XM_426302.3  XP_426302.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGEF386
    Uncharacterized protein
    56(a)
    1 ↔ 1
    GL343375.1(289488-329907)
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef381 Rho guanine nucleotide exchange factor (GEF) 38 58.29(n)
    55.66(a)
      100317614  XM_002660471.2  XP_002660517.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37A1B.176
    Protein Y37A1B.17, isoform a
    9(a)
    1 → many
    IV(13964361-13979847)
            Species with no ortholog for ARHGEF38

    ENSEMBL Gene Tree for ARHGEF38 (if available)
    TreeFam Gene Tree for ARHGEF38 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGEF38 gene
    ARHGEF372  DNMBP2  
    2 SIMAP similar genes for ARHGEF38 using alignment to 1 protein entry:     ARH38_HUMAN:
    ARHGEF37    DNMBP

    ARHGEF38 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

    10/2590 SNPs in ARHGEF38 are shown (see all 2590)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0389284
    A breast cancer sample4--see VAR_0389282 K N mis40--------
    rs1417176311,2
    --106273545(+) GAGCCA/GCATAA 2 -- us2k10--------
    rs1922153701,2
    --106273562(+) ACAAAA/GCTCAC 2 -- us2k10--------
    rs76858201,2
    H--106273655(+) AAATTT/CCCCCC 2 -- us2k14Minor allele frequency- C:0.00NS EA 418
    rs1144430011,2
    F--106273681(+) TTCTTC/TTGCCA 2 -- us2k11Minor allele frequency- T:0.01WA 118
    rs76615711,2
    C,F,A,H--106273742(+) ATGCCG/ATGTCT 2 -- us2k116Minor allele frequency- A:0.18NA NS EA WA CSA 1223
    rs1857063941,2
    --106273776(+) TGCTGC/TAGTAT 2 -- us2k10--------
    rs1395841451,2
    --106273787(+) TTATGC/TATTTC 2 -- us2k10--------
    rs37562581,2
    C,F,H--106273949(+) TGATAC/TCGTAT 2 -- us2k124Minor allele frequency- T:0.17EA NA NS WA 3940
    rs738379781,2
    C,F--106274129(+) TACTTG/TGGAGG 2 -- us2k12Minor allele frequency- T:0.08WA 120

    HapMap Linkage Disequilibrium report for ARHGEF38 (106473777 - 106629250 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for ARHGEF38 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2662994CNV Deletion23128226
    esv2728102CNV Deletion23290073
    esv2728101CNV Deletion23290073
    esv2728103CNV Deletion23290073
    esv267409CNV Insertion20981092
    esv271243CNV Insertion20981092
    esv273489CNV Insertion20981092
    nsv524424CNV Loss19592680
    esv22942CNV Loss19812545
    nsv290938CNV Loss16902084

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGEF38
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGEF38

    (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
    3 diseases for ARHGEF38:    About MalaCards
    alcohol dependence    spasticity    alcoholism


    ARHGEF38 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARHGEF38
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF38 (0 documents)

    Export disorders for ARHGEF38 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 ARHGEF38 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ARHGEF38)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1 Takefuji M....Kaibuchi K. (2010)
    2. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1 Kalsi G....Riley B.P. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Meta-analyses of genome-wide association studies iden tify multiple loci associated with pulmonary function. (PubMed id 20010835)1 Hancock D.B....London S.J. (2010)
    5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1 Uhl G.R....Lerman C. (2008)
    6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    7. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (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: 54848 HGNC: 25968 AceView: FLJ20184 Ensembl:ENSG00000236699 euGenes: HUgn54848
    ECgene: ARHGEF38 H-InvDB: ARHGEF38

    (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 ARHGEF38 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARHGEF38 gene:
    Search GeneIP for patents involving ARHGEF38

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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     Proteins for ARHGEF38
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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