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Aliases for SPATA9 Gene

Aliases for SPATA9 Gene

  • Spermatogenesis Associated 9 2 3 5
  • Testis Development Protein NYD-SP16 3 4
  • Spermatogenesis-Associated Protein 9 3
  • Testicular Tissue Protein Li 179 3
  • CTD-2154I11.2 3
  • NYD-SP16 3

External Ids for SPATA9 Gene

Previous GeneCards Identifiers for SPATA9 Gene

  • GC05M095016
  • GC05M095061
  • GC05M095013
  • GC05M090184

Summaries for SPATA9 Gene

GeneCards Summary for SPATA9 Gene

SPATA9 (Spermatogenesis Associated 9) is a Protein Coding gene. Diseases associated with SPATA9 include Sertoli Cell-Only Syndrome.

UniProtKB/Swiss-Prot for SPATA9 Gene

  • May play a role in testicular development/spermatogenesis and may be an important factor in male infertility.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA9 Gene

Genomics for SPATA9 Gene

Regulatory Elements for SPATA9 Gene

Enhancers for SPATA9 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
GH05G095645 1.1 ENCODE 52.4 +50.9 50900 4.9 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SPATA9 RHOBTB3 ENSG00000250240 GPR150 LINC01554 RFESD LOC105379090
GH05G095640 1.2 FANTOM5 Ensembl ENCODE 41.7 +57.1 57097 2.3 ZNF280D TAF1 MAX NR3C1 ZNF644 RAD21 ATF2 YY1 TEAD3 FOXA1 SPATA9 GPR150 LINC01554 RHOBTB3 ENSG00000250240 ENSG00000251409 GLRX LOC105379091 RFESD GC05M095620
GH05G095630 1.1 Ensembl ENCODE 28.1 +67.2 67170 2.6 TBP PKNOX1 CBX3 RAD21 ZBTB40 TCF12 GATA2 ZNF143 FOS CREM SPATA9 RHOBTB3 ENSG00000251409 LINC01554 ENSG00000250240 GC05M095620 RFESD
GH05G095724 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -31.6 -31566 11.6 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 MEF2D SPATA9 GLRX RHOBTB3 TTC37 ELL2 ENSG00000250240
GH05G095668 1.1 Ensembl ENCODE 17.6 +28.9 28872 2.5 SOX13 CTCF PKNOX1 ATF1 ZNF644 RAD21 RARA YY1 TEAD3 CBX5 SPATA9 RHOBTB3 ENSG00000250240 LINC01554 GLRX ENSG00000251409 LOC105379090
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA9 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SPATA9 gene promoter:

Genomic Location for SPATA9 Gene

Chromosome:
5
Start:
95,652,181 bp from pter
End:
95,698,711 bp from pter
Size:
46,531 bases
Orientation:
Minus strand

Genomic View for SPATA9 Gene

Genes around SPATA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA9 Gene

Proteins for SPATA9 Gene

  • Protein details for SPATA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWV2-SPAT9_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 9
    Protein Accession:
    Q9BWV2
    Secondary Accessions:
    • A8K8H3
    • Q4G122
    • Q86X33
    • Q8NA28

    Protein attributes for SPATA9 Gene

    Size:
    254 amino acids
    Molecular mass:
    28740 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPATA9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA9 Gene

Post-translational modifications for SPATA9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPATA9 Gene

Domains & Families for SPATA9 Gene

Protein Domains for SPATA9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPATA9: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SPATA9 Gene

Function for SPATA9 Gene

Molecular function for SPATA9 Gene

UniProtKB/Swiss-Prot Function:
May play a role in testicular development/spermatogenesis and may be an important factor in male infertility.
genes like me logo Genes that share phenotypes with SPATA9: view

Animal Model Products

CRISPR Products

miRNA for SPATA9 Gene

miRTarBase miRNAs that target SPATA9

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA9 Gene

Localization for SPATA9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA9 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPATA9 gene
Compartment Confidence
mitochondrion 3
cytosol 3
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SPATA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPATA9: view

Pathways & Interactions for SPATA9 Gene

SuperPathways for SPATA9 Gene

No Data Available

Interacting Proteins for SPATA9 Gene

Gene Ontology (GO) - Biological Process for SPATA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA9: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA9 Gene

Drugs & Compounds for SPATA9 Gene

No Compound Related Data Available

Transcripts for SPATA9 Gene

Unigene Clusters for SPATA9 Gene

Spermatogenesis associated 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: - -
SP4: - -

Relevant External Links for SPATA9 Gene

GeneLoc Exon Structure for
SPATA9
ECgene alternative splicing isoforms for
SPATA9

Expression for SPATA9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA9 Gene

mRNA differential expression in normal tissues according to GTEx for SPATA9 Gene

This gene is overexpressed in Testis (x24.1).

Protein differential expression in normal tissues from HIPED for SPATA9 Gene

This gene is overexpressed in Plasma (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA9 Gene



Protein tissue co-expression partners for SPATA9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA9 Gene:

SPATA9

SOURCE GeneReport for Unigene cluster for SPATA9 Gene:

Hs.50499

mRNA Expression by UniProt/SwissProt for SPATA9 Gene:

Q9BWV2-SPAT9_HUMAN
Tissue specificity: Highly expressed in testes and pancreas. Low levels found in the heart, lungs, and brain. Very low expression detected in the placenta. No expression seen in skeletal muscle, liver, kidney, thymus, small intestine, colons, spleen, leukocytes, prostate gland, and ovary. In the adult testes, expression was about 6.44-fold higher than in the embryo testes. No expression in testes of patients with Sertoli-cell-only syndrome. In patients with arrest at spermatogonium and primary spermatocyte stages, no expression was detected. In patients with arrest at the spermatid stage, expression level was weak or absent. Variable expression was seen in patients with spermatogenic arrest.

Evidence on tissue expression from TISSUES for SPATA9 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SPATA9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA9 Gene

Orthologs for SPATA9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA9 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia SPATA9 34 35
  • 90.74 (n)
cow
(Bos Taurus)
Mammalia SPATA9 34 35
  • 89.95 (n)
rat
(Rattus norvegicus)
Mammalia Spata9 34
  • 85.39 (n)
mouse
(Mus musculus)
Mammalia Spata9 34 16 35
  • 82.6 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA9 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPATA9 35
  • 39 (a)
OneToOne
Species where no ortholog for SPATA9 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)
  • chicken (Gallus gallus)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPATA9 Gene

ENSEMBL:
Gene Tree for SPATA9 (if available)
TreeFam:
Gene Tree for SPATA9 (if available)

Paralogs for SPATA9 Gene

No data available for Paralogs for SPATA9 Gene

Variants for SPATA9 Gene

Sequence variations from dbSNP and Humsavar for SPATA9 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000016142 -- 95,660,764(+) TTGAT(C/G)AAGGT intron-variant
rs1000021254 -- 95,696,181(+) AGCTG(C/T)ACCTG intron-variant
rs1000078698 -- 95,702,713(+) CCTAC(-/A)AAAAA intron-variant
rs1000098606 -- 95,700,861(+) AAGCC(A/G)TGTTA intron-variant
rs1000107543 -- 95,711,652(+) GTAAG(-/GC)GGTGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SPATA9 Gene

Variant ID Type Subtype PubMed ID
esv1052640 CNV insertion 17803354
esv2513210 CNV insertion 19546169
esv3303585 CNV mobile element insertion 20981092
esv3309189 CNV mobile element insertion 20981092
esv3349666 CNV insertion 20981092
esv3388266 CNV insertion 20981092
esv3403924 CNV insertion 20981092
nsv507274 OTHER sequence alteration 20534489
nsv598955 CNV gain 21841781
nsv598960 CNV loss 21841781
nsv830409 CNV gain 17160897

Variation tolerance for SPATA9 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 50.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA9 Gene

Disorders for SPATA9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPATA9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sertoli cell-only syndrome
  • del castillo syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPATA9

Genetic Association Database (GAD)
SPATA9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA9
genes like me logo Genes that share disorders with SPATA9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA9 Gene

Publications for SPATA9 Gene

  1. NYD-SP16, a novel gene associated with spermatogenesis of human testis. (PMID: 12493713) Cheng L.J. … Sha J.H. (Biol. Reprod. 2003) 2 3 4 64
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M. … Tobin M.D. (Nat. Genet. 2011) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for SPATA9 Gene

Sources for SPATA9 Gene

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