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

SPATA13 Gene

protein-coding   GIFtS: 54
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)
About This Section

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

GeneCards Summary for SPATA13 Gene: 
SPATA13 (spermatogenesis associated 13) is a protein-coding gene. Diseases associated with SPATA13 include orofacial cleft, and alcohol dependence, and among its related super-pathways are G-protein signaling Regulation of CDC42 activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPATA13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
24,553,839 bp from pter      End:
24,895,169 bp from pter
Size:
341,331 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: 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
Subcellular location: 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
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 

SPATA13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SPATA13 Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001159743.1  NP_694568.1  

ENSEMBL proteins: 
 ENSP00000371576   ENSP00000398560   ENSP00000371527   ENSP00000401605   ENSP00000382830  
 ENSP00000386471   ENSP00000397498   ENSP00000371542   ENSP00000343631  

Human Recombinant Protein Products for SPATA13: 
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Novus Biologicals SPATA13 Lysate
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Browse Sino Biological Cell Lysates 
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Cloud-Clone Corp. Proteins for SPATA13 

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--
GO:0005737cytoplasm IDA--
GO:0030027lamellipodium IDA17599059

SPATA13 for ontologies           About GeneDecksing



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LSBio Antibodies in human, mouse, rat for SPATA13 

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Cloud-Clone Corp. CLIAs for SPATA13


(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

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,
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: 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): 5 molecular function terms (GO ID links to tree view):    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:0005543phospholipid binding IEA--
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:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for SPATA13 
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPATA13 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPATA13 

miRNA
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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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Clone
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA13


(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 SPATA13 About                                                                                                See pathways by source

SuperPathContained pathways About
1G-protein signaling Regulation of CDC42 activity
G-protein signaling Regulation of CDC42 activity1.00
2Regulation of CDC42 activity
Regulation of CDC42 activity
3Regulation of RAC1 activity
Regulation of RAC1 activity

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for SPATA13
    G-protein signaling Regulation of CDC42 activity


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



SPATA13 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPATA13

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

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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016477cell migration IMP17145773
GO:0030032lamellipodium assembly IMP17599059
GO:0030334regulation of cell migration IMP17599059
GO:0035023regulation of Rho protein signal transduction IEA--
GO:0046847filopodium assembly IMP17145773

SPATA13 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 SPATA13 (SPT13)

Search CenterWatch for drugs/clinical trials and news about 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,
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 SPATA13 gene (2 alternative transcripts): 
NM_001166271.1  NM_153023.2  

Unigene Cluster for SPATA13:

Spermatogenesis associated 13
Hs.595391  [show with all ESTs]
Unigene Representative Sequence: BX648244
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000382141(uc001upe.3) 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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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
Products:
     
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPATA13
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OriGene ORF clones in mouse, rat for SPATA13
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPATA13
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Sirion Biotech Customized lentivirus for stable overexpression of SPATA13 
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Primer
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  QIAGEN 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 

24/228 AceView cDNA sequences (see all 228):

BU429984 BX283763 AL699742 AK123031 R78453 AW075731 AL707817 BX646944 
AL040353 BE856262 AI306427 H03469 AA007146 AA987987 AW206404 CB136185 
BX644087 CB215619 AI435823 AK055770 NM_153023 D79329 CK905109 BE735417 

GeneLoc Exon Structure

5/17 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™, 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

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


See SPATA13 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPATA13

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

    SABiosciences Custom PCR Arrays for SPATA13
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPATA13
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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SPATA13 gene from 6/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spata131 , 5 spermatogenesis associated 131, 5 76.67(n)1
73.64(a)1
  14 (31.77 cM)5
2191401  NM_001033272.11  NP_001028444.11 
 606340015 
chicken
(Gallus gallus)
Aves SPATA131 spermatogenesis associated 13 68.72(n)
66.93(a)
  418940  XM_417134.2  XP_417134.2 
lizard
(Anolis carolinensis)
Reptilia SPATA136
spermatogenesis associated 13
63(a)
1 ↔ 1
3(188887299-188947168)
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 
fruit fly
(Drosophila melanogaster)
Insecta GEFmeso6
Guanine nucleotide exchange factor in mesoderm
6(a)
1 → many
2R(14441624-14499260)
worm
(Caenorhabditis elegans)
Secernentea uig-16
Protein UIG-1, isoform d
10(a)
1 → many
V(13273567-13295913)


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  VAV12  PLEKHG22  PLEKHG32  PREX22  ARHGEF72  TIAM12  TIAM22  
ARHGEF92  VAV32  VAV22  ARHGEF42  PREX12  PLEKHG12  
6 SIMAP similar genes for SPATA13 using alignment to 5 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) 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)
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10/3495 SNPs in SPATA13 are shown (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 (24553839 - 24803839 bp, first 250kb of SPATA13)

Structural Variations
     Database of Genomic Variants (DGV) 10/22 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
SABiosciences Cancer Mutation 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: --

4 diseases for SPATA13:    About MalaCards
orofacial cleft    alcohol dependence    adenoma    alcoholism


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 9 sources (see all 19):
(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 Chi nese Han population reveals risk loci for ischemic stroke. (PubMed id 19910543)1, 4 Ding H....Wang D.W. (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. (2009)
  3. The Rho-family GEF Asef2 activates Rac to modulate ad hesion and actin dynamics and thereby regulate cell migration. (PubMed id 19934221)1, 2 Bristow J.M....Webb D.J. (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. (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. (2007)
  6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (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. (2004)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  9. Genome-wide association study of comorbid depressive s yndrome and alcohol dependence. (PubMed id 22064162)1 Edwards A.C....Dick D.M. (2012)
  10. Genome wide study of maternal and parent-of-origin eff ects on the etiology of orofacial clefts. (PubMed id 22419666)1 Shi M....Beaty T.H. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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



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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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