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Aliases for SPATA13 Gene

Aliases for SPATA13 Gene

  • Spermatogenesis Associated 13 2 3 5
  • APC-Stimulated Guanine Nucleotide Exchange Factor 2 3 4
  • ASEF2 3 4
  • Adenomatous Polyposis Coli Stimulated Exchange Factor 2 3
  • Spermatogenesis-Associated Protein 13 3
  • ARHGEF29 3

External Ids for SPATA13 Gene

Previous GeneCards Identifiers for SPATA13 Gene

  • GC13P022532
  • GC13P023632
  • GC13P024734
  • GC13P005546
  • GC13P024554
  • GC13P023981
  • GC13P023983
  • GC13P023985

Summaries for SPATA13 Gene

GeneCards Summary for SPATA13 Gene

SPATA13 (Spermatogenesis Associated 13) is a Protein Coding gene. Diseases associated with SPATA13 include Adenomatous Polyposis Coli and Dravet Syndrome. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and Regulation of RAC1 activity. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and Rac guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000273167.

UniProtKB/Swiss-Prot for SPATA13 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA13 Gene

Genomics for SPATA13 Gene

Regulatory Elements for SPATA13 Gene

Enhancers for SPATA13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SPATA13 on UCSC Golden Path with GeneCards custom track

Promoters for SPATA13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPATA13 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPATA13 Gene

Chromosome:
13
Start:
23,979,626 bp from pter
End:
24,307,074 bp from pter
Size:
327,449 bases
Orientation:
Plus strand

Genomic View for SPATA13 Gene

Genes around SPATA13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA13 Gene

Proteins for SPATA13 Gene

  • Protein details for SPATA13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96N96-SPT13_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 13
    Protein Accession:
    Q96N96
    Secondary Accessions:
    • A2VEA9
    • A6NF85
    • B4DQB1
    • B4DSZ0
    • B4DVM8
    • J3KPJ7
    • J3KQH2
    • Q5VX68
    • Q6ZML1
    • Q8N873
    • Q8TEK6

    Protein attributes for SPATA13 Gene

    Size:
    652 amino acids
    Molecular mass:
    74820 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAC04977.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPATA13 Gene

neXtProt entry for SPATA13 Gene

Post-translational modifications for SPATA13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SPATA13 Gene

Domains & Families for SPATA13 Gene

Protein Domains for SPATA13 Gene

Suggested Antigen Peptide Sequences for SPATA13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96N96

UniProtKB/Swiss-Prot:

SPT13_HUMAN :
  • The C-terminal tail is required for its GEF activity.
Domain:
  • The C-terminal tail is required for its GEF activity.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with SPATA13: view

Function for SPATA13 Gene

Molecular function for SPATA13 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SPATA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IMP 17145773
GO:0005515 protein binding IPI 17145773
GO:0030676 Rac guanyl-nucleotide exchange factor activity IMP 17599059
genes like me logo Genes that share ontologies with SPATA13: view
genes like me logo Genes that share phenotypes with SPATA13: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA13 Gene

Localization for SPATA13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA13 Gene

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
Jensen Localization Image for SPATA13 Gene COMPARTMENTS Subcellular localization image for SPATA13 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SPATA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 19151759
GO:0030027 lamellipodium IDA 17599059
GO:0030175 filopodium IDA 17599059
GO:0032587 ruffle membrane IDA 19151759
genes like me logo Genes that share ontologies with SPATA13: view

Pathways & Interactions for SPATA13 Gene

genes like me logo Genes that share pathways with SPATA13: view

Pathways by source for SPATA13 Gene

2 BioSystems pathways for SPATA13 Gene
1 GeneGo (Thomson Reuters) pathway for SPATA13 Gene

Gene Ontology (GO) - Biological Process for SPATA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016477 cell migration IMP 17145773
GO:0030032 lamellipodium assembly IMP 17599059
GO:0030334 regulation of cell migration IMP 17599059
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SPATA13: view

No data available for SIGNOR curated interactions for SPATA13 Gene

Drugs & Compounds for SPATA13 Gene

No Compound Related Data Available

Transcripts for SPATA13 Gene

Unigene Clusters for SPATA13 Gene

Spermatogenesis associated 13:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA13 Gene

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:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11: - - - - - -
SP12:
SP13: - - - -
SP14:
SP15: -
SP16:
SP17:

ExUns: 16b · 16c ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c · 25d
SP1: - - - - - - - -
SP2: -
SP3:
SP4:
SP5:
SP6: - - -
SP7: -
SP8: - -
SP9: -
SP10:
SP11:
SP12: - - - -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SPATA13 Gene

GeneLoc Exon Structure for
SPATA13
ECgene alternative splicing isoforms for
SPATA13

Expression for SPATA13 Gene

mRNA expression in normal human tissues for SPATA13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPATA13 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (61.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPATA13 Gene



Protein tissue co-expression partners for SPATA13 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPATA13 Gene:

SPATA13

SOURCE GeneReport for Unigene cluster for SPATA13 Gene:

Hs.595391

mRNA Expression by UniProt/SwissProt for SPATA13 Gene:

Q96N96-SPT13_HUMAN
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.
genes like me logo Genes that share expression patterns with SPATA13: view

Primer Products

No data available for mRNA differential expression in normal tissues for SPATA13 Gene

Orthologs for SPATA13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA13 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SPATA13 34
  • 79.18 (n)
  • 75.72 (a)
-- 35
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Spata13 34
  • 76.84 (n)
  • 73.8 (a)
Spata13 16
Spata13 35
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SPATA13 34
  • 99.4 (n)
  • 99.37 (a)
SPATA13 35
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spata13 34
  • 76.24 (n)
  • 73.86 (a)
cow
(Bos Taurus)
Mammalia -- 35
  • 64 (a)
OneToMany
LOC785769 34
  • 74.12 (n)
  • 68.95 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPATA13 34
  • 68.53 (n)
  • 66.69 (a)
-- 35
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485539 34
  • 63.44 (n)
  • 63.92 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.14043 34
spata13 34
  • 56.89 (n)
  • 54.15 (a)
spata13 35
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7470 35
  • 34 (a)
OneToMany
Species where no ortholog for SPATA13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPATA13 Gene

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

Paralogs for SPATA13 Gene

(6) SIMAP similar genes for SPATA13 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SPATA13: view

Variants for SPATA13 Gene

Sequence variations from dbSNP and Humsavar for SPATA13 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs7330736 - 24,249,756(+) GAGCC(C/T)GGAGA reference, missense
rs947227 -- 24,301,932(-) ACGGG(A/G)ATTAC intron-variant
rs947228 -- 24,301,891(-) TGAAT(C/T)AATAG intron-variant
rs947229 -- 24,301,652(-) CCCTA(C/T)CTCCC intron-variant
rs947230 -- 24,300,788(-) GACCT(G/T)GTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA13 Gene

Variant ID Type Subtype PubMed ID
dgv1615n100 CNV gain 25217958
dgv3084n54 CNV gain 21841781
dgv3091n54 CNV loss 21841781
dgv929n106 CNV deletion 24896259
esv1137865 CNV insertion 17803354
esv1144168 CNV insertion 17803354
esv2242475 CNV deletion 18987734
esv2422202 CNV duplication 17116639
esv2422502 CNV duplication 17116639
esv2665633 CNV deletion 23128226
esv2669203 CNV deletion 23128226
esv2751136 CNV loss 17911159
esv2751137 CNV gain 17911159
esv28101 CNV gain 19812545
esv28977 CNV gain 19812545
esv28988 CNV loss 19812545
esv3366945 CNV duplication 20981092
esv3550185 CNV deletion 23714750
esv3550186 CNV deletion 23714750
esv3580576 CNV loss 25503493
esv3582215 CNV gain 25503493
esv3631536 CNV gain 21293372
esv3631540 CNV gain 21293372
esv3631541 CNV loss 21293372
esv3631542 CNV loss 21293372
esv3631545 CNV loss 21293372
esv3631546 CNV loss 21293372
esv3631547 CNV loss 21293372
esv3631548 CNV loss 21293372
esv3631549 CNV loss 21293372
esv3892310 CNV gain 25118596
esv3892311 CNV gain 25118596
esv5325 OTHER complex 18987735
esv9381 CNV loss 19470904
nsv1044867 CNV gain 25217958
nsv1049594 CNV loss 25217958
nsv1050731 CNV gain 25217958
nsv1051728 CNV gain 25217958
nsv1052089 CNV loss 25217958
nsv1069053 CNV deletion 25765185
nsv1070159 CNV deletion 25765185
nsv1078303 OTHER inversion 25765185
nsv1120011 CNV deletion 24896259
nsv1134290 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv455837 CNV gain 19166990
nsv455842 CNV gain 19166990
nsv507686 OTHER sequence alteration 20534489
nsv509499 CNV insertion 20534489
nsv516361 CNV loss 19592680
nsv525965 CNV gain 19592680
nsv561292 CNV loss 21841781
nsv561338 CNV gain 21841781
nsv561341 CNV loss 21841781
nsv561342 CNV gain 21841781
nsv832566 CNV gain 17160897
nsv832567 CNV loss 17160897
nsv974060 CNV duplication 23825009

Variation tolerance for SPATA13 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.15; 75.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA13 Gene

Human Gene Mutation Database (HGMD)
SPATA13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA13 Gene

Disorders for SPATA13 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPATA13 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
adenomatous polyposis coli
  • brain tumor-polyposis syndrome 2
dravet syndrome
  • dravet syndrome, modifier of
adenoma
  • acinar cell adenoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPATA13

Genetic Association Database (GAD)
SPATA13
Human Genome Epidemiology (HuGE) Navigator
SPATA13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA13
genes like me logo Genes that share disorders with SPATA13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA13 Gene

Publications for SPATA13 Gene

  1. Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke. (PMID: 19910543) Ding H. … Wang D.W. (Stroke 2010) 3 46 65
  2. Asef2 and Neurabin2 cooperatively regulate actin cytoskeletal organization and are involved in HGF-induced cell migration. (PMID: 19151759) Sagara M. … Akiyama T. (Oncogene 2009) 3 4 65
  3. The Rho-family GEF Asef2 activates Rac to modulate adhesion and actin dynamics and thereby regulate cell migration. (PMID: 19934221) Bristow J.M. … Webb D.J. (J. Cell Sci. 2009) 3 4 65
  4. Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element. (PMID: 17145773) Hamann M.J. … Billadeau D.D. (Mol. Cell. Biol. 2007) 3 4 65
  5. Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42. (PMID: 17599059) Kawasaki Y. … Akiyama T. (Oncogene 2007) 3 4 65

Products for SPATA13 Gene

Sources for SPATA13 Gene

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