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SPATA13 Gene

protein-coding   GIFtS: 56
GCID: GC13P024554

Spermatogenesis Associated 13

  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)
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Aliases
Spermatogenesis Associated 131 2     Adenomatous Polyposis Coli Stimulated Exchange Factor 22
APC-Stimulated Guanine Nucleotide Exchange Factor 22 3     Spermatogenesis-Associated Protein 132
ASEF22 5     Asef23
ARHGEF292     

External Ids:    HGNC: 232221   Entrez Gene: 2211782   Ensembl: ENSG000001829577   OMIM: 6133245   UniProtKB: Q96N963   

Export aliases for SPATA13 gene to outside databases

Previous GC identifers: GC13P022532 GC13P023632 GC13P024734 GC13P005546


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPATA13 Gene:
SPATA13 (spermatogenesis associated 13) is a protein-coding gene. Diseases associated with SPATA13 include orofacial cleft, and alcohol dependence. GO annotations related to this gene include phospholipid binding and Rac guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF6.

UniProtKB/Swiss-Prot: SPT13_HUMAN, Q96N96
Function: Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell
migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism.
Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation
via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in
intestinal adenoma formation and tumor progression




(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:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPATA13 gene promoter:
         AREB6   LHX3b/Lhx3b   POU2F1   AML1a   FOXJ2 (long isoform)   POU2F1a   LHX3a/Lhx3a   FOXJ2   HNF-3beta   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SPATA13 promoter sequence
   Search Chromatin IP Primers for SPATA13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPATA13


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

Entrez Gene cytogenetic band: 13q12.12   Ensembl cytogenetic band:  13q12.12   HGNC cytogenetic band: 13q12.13

SPATA13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA13 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P024554:  view genomic region     (about GC identifiers)

Start:
24,553,944 bp from pter      End:
24,881,212 bp from pter
Size:
327,269 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SPT13_HUMAN, Q96N96 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 13  
Size: 652 amino acids; 74820 Da
Subunit: Interacts (via ABR and SH3 domain) with APC. The binding of APC enhances its GEF activity by relieving it
from an autoinhibitory conformation, in which the ABR and SH3 domains are associated with the C-terminal tail.
Interacts (via C-terminal tail) with PPP1R9B (via C-terminus). Interacts with RAC1
Sequence caution: Sequence=BAC04977.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A2VEA9 A6NF85 B4DQB1 B4DSZ0 B4DVM8 Q5VX68 Q6ZML1 Q8N873 Q8TEK6
Alternative splicing: 5 isoforms:  Q96N96-1   Q96N96-2   Q96N96-3   Q96N96-4   Q96N96-5   

Explore the universe of human proteins at neXtProt for SPATA13: NX_Q96N96

Explore proteomics data for SPATA13 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPATA13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001159743.1  NP_001273721.1  NP_001273722.1  NP_001273723.1  NP_001273724.1  NP_694568.1  

    ENSEMBL proteins: 
     ENSP00000398560   ENSP00000371527   ENSP00000401605   ENSP00000477296   ENSP00000382830  
     ENSP00000386471   ENSP00000397498   ENSP00000477304   ENSP00000371542   ENSP00000343631  

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    (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

    4 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q96N96

    ProtoNet protein and cluster: Q96N96

    4 Blocks protein domains:
    IPB000219 DH domain
    IPB000221 Protamine P1
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: SPT13_HUMAN, Q96N96
    Domain: The C-terminal tail is required for its GEF activity
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    SPATA13 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPT13_HUMAN, Q96N96
    Function: Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell
    migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism.
    Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation
    via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in
    intestinal adenoma formation and tumor progression
    Enzyme regulation: Both the ABR and the SH3 domains contribute to maintaining the protein in an inhibited
    conformation by associating with the C-terminal tail. Binding of these domains to the C-terminal tail inhibits
    the activity of the protein by blocking a region that is required for its GEF activity

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IMP17145773
    GO:0005089Rho guanyl-nucleotide exchange factor activity ----
    GO:0005515protein binding IPI17145773
    GO:0030676Rac guanyl-nucleotide exchange factor activity IMP17599059
         
    SPATA13 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPATA13:
     Decreased Hepatitis C virus re 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target SPATA13:
    hsa-mir-27a-3p (MIRT028714), hsa-let-7e-5p (MIRT051545), hsa-mir-192-5p (MIRT026810)

    Block miRNA regulation of human, mouse, rat SPATA13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPATA13 (see all 51):
    hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-let-7d hsa-miR-513a-5p hsa-miR-1258 hsa-miR-570 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSPATA13 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SPATA13

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    GenScript: all cDNA clones in your preferred vector (see all 2): SPATA13 (NM_153023)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA13


    (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 UniProtKB/Swiss-Prot
    SPT13_HUMAN, Q96N96: Cytoplasm. Cell projection, filopodium. Cell projection, lamellipodium. Cell projection,
    ruffle membrane. Note=Accumulates in the lamellipodium and ruffle membrane in response to hepatocyte growth
    factor (HGF) treatment
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0030027lamellipodium IDA17599059
    GO:0030175filopodium IDA17599059

    SPATA13 for ontologies           About GeneDecksing


    (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 SPATA13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of RAC1 activity
    Regulation of RAC1 activity
    2Regulation of CDC42 activity
    Regulation of CDC42 activity
    3G protein signaling Regulation of CDC42 activity
    G protein signaling Regulation of CDC42 activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SPATA13
        G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for SPATA13
        Regulation of CDC42 activity
    Regulation of RAC1 activity


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPATA13
    Interactions:

        GeneGlobe Interaction Network for SPATA13

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

    Selected Interacting proteins for SPATA13 (ENSP000003715274) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCENSP000002574304STRING: ENSP00000257430
    CDC42ENSP000003144584STRING: ENSP00000314458
    RAC1ENSP000003484614STRING: ENSP00000348461
    KHDRBS1ENSP000003138294STRING: ENSP00000313829
    GRTP1ENSP000003645804STRING: ENSP00000364580
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016477cell migration IMP17145773
    GO:0030032lamellipodium assembly IMP17599059
    GO:0030334regulation of cell migration IMP17599059
    GO:0032314regulation of Rac GTPase activity IMP17599059
    GO:0035023regulation of Rho protein signal transduction ----

    SPATA13 for ontologies           About GeneDecksing



    (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 SPATA13 (SPT13)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPATA13 gene (6 alternative transcripts): 
    NM_001166271.2  NM_001286792.1  NM_001286793.1  NM_001286794.1  NM_001286795.1  NM_153023.3  

    Unigene Cluster for SPATA13:

    Spermatogenesis associated 13
    Hs.595391  [show with all ESTs]
    Unigene Representative Sequence: BX648244
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424834 ENST00000466831(uc001upf.2) ENST00000382095(uc010tcy.1)
    ENST00000474317 ENST00000434675(uc001upi.1) ENST00000494772 ENST00000399949
    ENST00000409126 ENST00000454083 ENST00000488060 ENST00000382108(uc001upd.2 uc021rhg.1 uc001upg.2 uc010tcz.2 uc010tdb.2 uc010tda.2 uc001uph.3 uc009zzz.2)
    ENST00000343003
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SPATA13 (see all 51):
    hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-let-7d hsa-miR-513a-5p hsa-miR-1258 hsa-miR-570 hsa-let-7g
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      QuantiFast Probe-based Assays in human, mouse, rat SPATA13

    Additional mRNA sequence: 

    AK025586.1 AK055770.1 AK074117.1 AK092754.1 AK092759.1 AK097217.1 AK123031.1 AK123225.1 
    AK160371.1 AK297394.1 AK298717.1 AK299981.1 AK301149.1 AK307528.1 AL049335.1 BC109290.1 
    BC109291.1 BX648244.1 

    11 DOTS entries:

    DT.97819804  DT.445572  DT.99951324  DT.99928031  DT.101971151  DT.120762087  DT.40260656  DT.97858912 
    DT.102821355  DT.91653670  DT.97812159 

    Selected AceView cDNA sequences (see all 228):

    BM728412 CB136185 BX644087 BE856262 AW206404 BX107153 CK905109 BM853281 
    BE735417 AK092759 AL040353 AA732279 AA007146 AK123031 BQ717547 BU429984 
    AA250723 AK097217 AL707817 D79329 BX283763 AK123225 AI435823 AA159751 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPATA13 (see all 17)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a ·
    SP1:                                -     -     -     -                 -     -     -                                                                           
    SP2:                                                  -                 -     -     -                                                                           
    SP3:                                                                                -                 -     -     -                                             
    SP4:                                                                                -                                                                           
    SP5:                                                                                                                                                            

    ExUns: 16b · 16c ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c · 25d
    SP1:                    -     -     -     -     -     -     -     -                                       
    SP2:                    -                                                                                 
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for SPATA13

    (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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    SPATA13 expression in normal human tissues (normalized intensities)      SPATA13 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGATCTTG
    SPATA13 Expression
    About this image


    SPATA13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Ovary (Reproductive System)
             Oviduct
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SPATA13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPATA13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.595391

    UniProtKB/Swiss-Prot: SPT13_HUMAN, Q96N96
    Tissue specificity: Expressed at high levels in the placenta, spleen and kidney, at moderate levels in lung, small
    intestine, liver, brain and heart, and at low levels in skeletal muscle. Expression is aberrantly enhanced in
    most colorectal tumors

        Custom PCR Arrays for SPATA13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA13

    (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 chordates.

    Orthologs for SPATA13 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata131 , 5 spermatogenesis associated 131, 5 76.84(n)1
    73.8(a)1
      14 (31.77 cM)5
    2191401  NM_001033272.11  NP_001028444.11 
     606340015 
    chicken
    (Gallus gallus)
    Aves SPATA131 spermatogenesis associated 13 68.53(n)
    66.69(a)
      418940  XM_417134.3  XP_417134.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    64(a)
    1 → many
    3(188887299-188947168)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004855391 spermatogenesis-associated protein 13-like 63.44(n)
    63.92(a)
      100485539  XM_004912059.1  XP_004912116.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.140432 Transcribed sequence with weak similarity to protein refNP_127462.1 (H.sapiens) Rho guanine nucleotide exchange factor 4, isoform b; APC-stimulated guanine nucleotide exchange factor [Homo sapiens] less 73.66(n)    BI844434.1 


    ENSEMBL Gene Tree for SPATA13 (if available)
    TreeFam Gene Tree for SPATA13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPATA13 gene
    ARHGEF62  PLEKHG22  PLEKHG32  PREX22  ENSG000002731672  ARHGEF72  TIAM12  TIAM22  
    ARHGEF92  ARHGEF42  PLEKHG12  PREX12  
    6 SIMAP similar genes for SPATA13 using alignment to 6 protein entries:     SPT13_HUMAN (see all proteins):
    ARHGEF9    ARHGEF4    DKFZp434G2016    ARHGEF7    SH3GL2    PREX2

    SPATA13 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), 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)
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    Selected SNPs for SPATA13 (see all 3495)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426528451,2
    --24733023(+) CAGGTA/CTAGTT 2 -- us2k10--------
    rs47693311,2
    C,F,A,H--24733127(+) ATTGCA/GTGTAA 2 -- us2k112Minor allele frequency- N:0.00EA NA NS CSA WA 685
    rs2000907391,2
    --24733242(+) ATAAT-/AAAAAA 2 -- us2k10--------
    rs798986021,2
    C--24733249(+) AAAAAA/CCCCTC 2 -- us2k10--------
    rs58022651,2
    C--24733250(+) AACCC-/AC/C  
            
    TCAAT
    2 -- us2k11NA 2
    rs601873761,2
    C,F--24733271(+) TGATAG/TTTTTT 2 -- us2k13Minor allele frequency- T:0.33NA WA 6
    rs113071391,2
    C--24733279(+) TTTTT-/A/    
       T
    /TTT
    AAATA
    4 -- us2k1 cds1 tfbs31NA 2
    rs12205811,2
    C,F--24733280(+) TTTTTT/AAATAA 2 -- us2k1 tfbs34Minor allele frequency- A:0.20NA WA 10
    rs20311621,2
    C,F,A,H--24733420(+) TTTTAC/TATTTT 2 -- us2k112Minor allele frequency- N:0.00EA NA WA 568
    rs1389075531,2
    C--24733434(+) AGCTTC/TAAAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPATA13 (24553944 - 24803944 bp, first 250kb of SPATA13)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPATA13 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747122CNV Deletion23290073
    esv2665633CNV Deletion23128226
    esv2422502CNV Duplication17116639
    esv2422202CNV Duplication17116639
    nsv509499CNV Insertion20534489
    esv1144168CNV Insertion17803354
    esv1137865CNV Insertion17803354
    nsv899939CNV Loss21882294
    nsv899940CNV Loss21882294
    esv2751136CNV Loss17911159

    Human Gene Mutation Database (HGMD): SPATA13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPATA13
    DNA2.0 Custom Variant and Variant Library Synthesis for SPATA13

    (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.)
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    OMIM gene information: 613324    OMIM disorders: --

    5 diseases for SPATA13:    About MalaCards
    orofacial cleft    alcohol dependence    pulmonary function    type 1 diabetes
    adenoma


    SPATA13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPATA13
    Human Genome Epidemiology (HuGE) Navigator: SPATA13 (1 document)

    Export disorders for SPATA13 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 SPATA13 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with SPATA13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke. (PubMed id 19910543)1, 4 Ding H....Wang D.W. ( a journal of cerebral circulation 2010)
    2. Asef2 and Neurabin2 cooperatively regulate actin cytoskeletal organization and are involved in HGF-induced cell migration. (PubMed id 19151759)1, 2 Sagara M.... Akiyama T. (Oncogene 2009)
    3. The Rho-family GEF Asef2 activates Rac to modulate adhesion and actin dynamics and thereby regulate cell migration. (PubMed id 19934221)1, 2 Bristow J.M....Webb D.J. (J. Cell Sci. 2009)
    4. Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42. (PubMed id 17599059)1, 2 Kawasaki Y....Akiyama T. (Oncogene 2007)
    5. Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element. (PubMed id 17145773)1, 2 Hamann M.J.... Billadeau D.D. (Mol. Cell. Biol. 2007)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PubMed id 22064162)1 Edwards A.C....Dick D.M. (Psychiatr. Genet. 2012)
    10. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (PubMed id 22419666)1 Shi M....Beaty T.H. (Am. J. Med. Genet. A 2012)

    (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: 221178 HGNC: 23222 AceView: SPATA13andMGC48915 Ensembl:ENSG00000182957 euGenes: HUgn221178
    ECgene: SPATA13 H-InvDB: SPATA13

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for SPATA13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPATA13 gene:
    Search GeneIP for patents involving SPATA13

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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