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Aliases for SPATA17 Gene

Aliases for SPATA17 Gene

  • Spermatogenesis Associated 17 2 3 5
  • IQ Motif Containing H 2 3
  • Spermatogenesis-Associated Protein 17 3
  • Spermatogenesis-Related Protein 11 3
  • MSRG-11 3
  • MSRG11 3
  • IQCH 3

External Ids for SPATA17 Gene

Previous GeneCards Identifiers for SPATA17 Gene

  • GC01P215871
  • GC01P217804
  • GC01P188479

Summaries for SPATA17 Gene

GeneCards Summary for SPATA17 Gene

SPATA17 (Spermatogenesis Associated 17) is a Protein Coding gene. Diseases associated with SPATA17 include Ichthyosis, Congenital, Autosomal Recessive 11 and Spermatogenic Failure, X-Linked, 1. Gene Ontology (GO) annotations related to this gene include calmodulin binding.

Additional gene information for SPATA17 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA17 Gene

Genomics for SPATA17 Gene

GeneHancer (GH) Regulatory Elements for SPATA17 Gene

Promoters and enhancers for SPATA17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I217629 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.7 -0.3 -324 2.2 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B BRCA1 SPATA17 GPATCH2 GC01P217564
GH01I217659 Enhancer 0.9 Ensembl ENCODE 17.9 +29.6 29574 2.6 CTCF PKNOX1 RAD21 ZNF316 GATA3 ZNF143 FOSL2 FOS MAFK ZNF654 SPATA17 GPATCH2 GC01M217679
GH01I217574 Enhancer 0.7 ENCODE 10.9 -56.5 -56540 0.1 FOXA2 CTBP1 GATA3 CREM HOMEZ TCF7L2 MIXL1 GATAD2A SOX5 SMARCE1 SPATA17 GPATCH2 GC01P217564
GH01I217561 Enhancer 0.6 ENCODE 11.2 -68.6 -68628 2.2 SMARCE1 CTCF DPF2 FOXA1 SP1 CTBP1 JUND GATA3 POLR2A CREB1 GC01P217564 GPATCH2 SPATA17 PIR51093
GH01I217564 Enhancer 0.4 UCNEbase 11.2 -67.0 -66966 0.3 GC01P217564 GPATCH2 SPATA17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPATA17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPATA17 gene promoter:

Genomic Locations for SPATA17 Gene

Genomic Locations for SPATA17 Gene
chr1:217,631,324-217,871,696
(GRCh38/hg38)
Size:
240,373 bases
Orientation:
Plus strand
chr1:217,804,666-218,045,038
(GRCh37/hg19)

Genomic View for SPATA17 Gene

Genes around SPATA17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA17 Gene

Proteins for SPATA17 Gene

  • Protein details for SPATA17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L03-SPT17_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 17
    Protein Accession:
    Q96L03
    Secondary Accessions:
    • A5D6N2

    Protein attributes for SPATA17 Gene

    Size:
    361 amino acids
    Molecular mass:
    43499 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPATA17 Gene

Post-translational modifications for SPATA17 Gene

No Post-translational modifications

Other Protein References for SPATA17 Gene

No data available for DME Specific Peptides for SPATA17 Gene

Domains & Families for SPATA17 Gene

Gene Families for SPATA17 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATA17 Gene

Suggested Antigen Peptide Sequences for SPATA17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPATA17: view

No data available for UniProtKB/Swiss-Prot for SPATA17 Gene

Function for SPATA17 Gene

Phenotypes From GWAS Catalog for SPATA17 Gene

Gene Ontology (GO) - Molecular Function for SPATA17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with SPATA17: view

Phenotypes for SPATA17 Gene

genes like me logo Genes that share phenotypes with SPATA17: view

Animal Model Products

CRISPR Products

miRNA for SPATA17 Gene

miRTarBase miRNAs that target SPATA17

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA17 Gene

Localization for SPATA17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA17 Gene

Cytoplasm.

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 SPATA17 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPATA17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SPATA17: view

Pathways & Interactions for SPATA17 Gene

SuperPathways for SPATA17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA17 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPATA17 Gene

Drugs & Compounds for SPATA17 Gene

No Compound Related Data Available

Transcripts for SPATA17 Gene

Unigene Clusters for SPATA17 Gene

Spermatogenesis associated 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA17 Gene

No ASD Table

Relevant External Links for SPATA17 Gene

GeneLoc Exon Structure for
SPATA17
ECgene alternative splicing isoforms for
SPATA17

Expression for SPATA17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA17 Gene

mRNA differential expression in normal tissues according to GTEx for SPATA17 Gene

This gene is overexpressed in Testis (x26.8).

Protein differential expression in normal tissues from HIPED for SPATA17 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPATA17 Gene



Protein tissue co-expression partners for SPATA17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA17 Gene:

SPATA17

SOURCE GeneReport for Unigene cluster for SPATA17 Gene:

Hs.171130

Evidence on tissue expression from TISSUES for SPATA17 Gene

  • Liver(4.8)
  • Blood(3.7)
  • Pancreas(3.7)
  • Adrenal gland(2.7)
  • Intestine(2.6)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with SPATA17: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA17 Gene

Orthologs for SPATA17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA17 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SPATA17 34 33
  • 87.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPATA17 33
  • 83.47 (n)
mouse
(Mus musculus)
Mammalia Spata17 16 34 33
  • 77.38 (n)
rat
(Rattus norvegicus)
Mammalia Spata17 33
  • 76.64 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA17 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA17 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA17 33 34
  • 67.22 (n)
lizard
(Anolis carolinensis)
Reptilia SPATA17 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata17 33
  • 62.41 (n)
zebrafish
(Danio rerio)
Actinopterygii spata17 33 34
  • 54.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for SPATA17 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)
  • 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 SPATA17 Gene

ENSEMBL:
Gene Tree for SPATA17 (if available)
TreeFam:
Gene Tree for SPATA17 (if available)

Paralogs for SPATA17 Gene

Pseudogenes.org Pseudogenes for SPATA17 Gene

genes like me logo Genes that share paralogs with SPATA17: view

No data available for Paralogs for SPATA17 Gene

Variants for SPATA17 Gene

Sequence variations from dbSNP and Humsavar for SPATA17 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000012857 -- 217,699,515(+) T/C intron_variant
rs1000039363 -- 217,651,365(+) T/G intron_variant
rs1000042834 -- 217,737,561(+) G/C intron_variant
rs1000056563 -- 217,789,111(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000056813 -- 217,640,050(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA17 Gene

Variant ID Type Subtype PubMed ID
nsv957430 CNV deletion 24416366
nsv945292 CNV duplication 23825009
nsv549217 CNV loss 21841781
nsv549216 CNV loss 21841781
nsv523504 CNV loss 19592680
nsv477696 CNV novel sequence insertion 20440878
nsv477649 CNV novel sequence insertion 20440878
nsv472635 CNV novel sequence insertion 20440878
nsv468183 CNV loss 19166990
nsv1152188 CNV deletion 26484159
nsv1124604 CNV duplication 24896259
nsv1122447 CNV deletion 24896259
nsv1068863 CNV deletion 25765185
nsv1005829 CNV gain 25217958
nsv1003999 CNV loss 25217958
esv989721 CNV deletion 20482838
esv8865 CNV loss 19470904
esv3588853 CNV loss 21293372
esv3588851 CNV gain 21293372
esv3588850 CNV loss 21293372
esv3588849 CNV loss 21293372
esv3578434 CNV loss 25503493
esv3546766 CNV deletion 23714750
esv3402578 CNV insertion 20981092
esv3396866 CNV insertion 20981092
esv3352301 CNV insertion 20981092
esv3322896 CNV insertion 20981092
esv3308331 CNV mobile element insertion 20981092
esv3305168 CNV mobile element insertion 20981092
esv3304574 CNV mobile element insertion 20981092
esv2762166 CNV loss 21179565
esv2722940 CNV deletion 23290073
esv2674631 CNV deletion 23128226
esv1474893 CNV deletion 17803354
esv1410169 CNV insertion 17803354
esv1000763 CNV insertion 20482838

Variation tolerance for SPATA17 Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA17 Gene

Disorders for SPATA17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPATA17 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPATA17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPATA17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA17 Gene

Publications for SPATA17 Gene

  1. A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest. (PMID: 19483714) Miyamoto T … Sengoku K (Asian journal of andrology 2009) 3 44 58
  2. Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers. (PMID: 19680270) Nakabayashi K … Shirasawa S (Journal of human genetics 2009) 3 44 58
  3. Expression and identification of a novel apoptosis gene Spata17 (MSRG-11) in mouse spermatogenic cells. (PMID: 16395525) Deng Y … Lu GX (Acta biochimica et biophysica Sinica 2006) 2 3 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for SPATA17 Gene

Sources for SPATA17 Gene

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