Aliases for SPATA22 Gene

Aliases for SPATA22 Gene

  • Spermatogenesis Associated 22 2 3 5
  • Spermatogenesis-Associated Protein 22 3 4
  • Testis Development Protein NYD-SP20 3 4
  • Testicular Tissue Protein Li 186 3
  • NYD-SP20 3
  • NYDSP20 3

External Ids for SPATA22 Gene

Previous GeneCards Identifiers for SPATA22 Gene

  • GC17M003291
  • GC17M003235
  • GC17M003343

Summaries for SPATA22 Gene

GeneCards Summary for SPATA22 Gene

SPATA22 (Spermatogenesis Associated 22) is a Protein Coding gene. Diseases associated with SPATA22 include Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques and Spermatogenic Failure, X-Linked, 1.

UniProtKB/Swiss-Prot Summary for SPATA22 Gene

  • Meiosis-specific protein required for homologous recombination in meiosis I.

Additional gene information for SPATA22 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATA22 Gene

Genomics for SPATA22 Gene

GeneHancer (GH) Regulatory Elements for SPATA22 Gene

Promoters and enhancers for SPATA22 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
GH17J003511 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 761.2 +1.0 1002 2.2 L3MBTL2 RAD21 SP1 PPARG RXRA RXRB NRF1 JUND POLR2A YY1 SPATA22 piR-48419 TRPV3 MG828730-028
GH17J003471 Promoter 0.3 EPDnew 750.3 +42.0 42013 0.1 ASPA piR-32214-264 SPATA22 MG828730-028
GH17J003514 Enhancer 0.2 dbSUPER 757.7 -1.1 -1054 1.3 SPATA22 lnc-SPATA22-1 TRPV3 MG828730-028
GH17J003386 Promoter/Enhancer 0.7 FANTOM5 Ensembl 15.2 +127.5 127451 0.8 POLR2A OR3A1 ENSG00000180042 OR1R1P OR3A2 lnc-OR3A2-1 piR-57460-264 SPATA22 ASPA OR3A3 OR1E2
GH17J003482 Enhancer 0.5 Ensembl ENCODE 7.3 +30.6 30551 2.2 POU5F1 NANOG OR1E1 ASPA SPATA22 piR-50437-259 MG828730-028
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATA22 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPATA22 gene promoter:
  • AML1a
  • Cdc5
  • Elk-1
  • Evi-1
  • FOXC1
  • IRF-1
  • LyF-1
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for SPATA22 Gene

Genomic Locations for SPATA22 Gene
chr17:3,440,011-3,513,852
(GRCh38/hg38)
Size:
73,842 bases
Orientation:
Minus strand
chr17:3,343,305-3,417,146
(GRCh37/hg19)
Size:
73,842 bases
Orientation:
Minus strand

Genomic View for SPATA22 Gene

Genes around SPATA22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA22 Gene

Proteins for SPATA22 Gene

  • Protein details for SPATA22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHS9-SPT22_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 22
    Protein Accession:
    Q8NHS9
    Secondary Accessions:
    • B4DXB1
    • D3DTI9
    • J3KN63
    • Q969H3
    • Q96JT4

    Protein attributes for SPATA22 Gene

    Size:
    363 amino acids
    Molecular mass:
    41318 Da
    Quaternary structure:
    • Component of a multiprotein complex with MEIOB and SPATA22.

    Alternative splice isoforms for SPATA22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA22 Gene

Post-translational modifications for SPATA22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPATA22 Gene

Domains & Families for SPATA22 Gene

Gene Families for SPATA22 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATA22 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA22 Gene

GenScript: Design optimal peptide antigens:
  • Testis development protein NYD-SP20 (SPT22_HUMAN)
genes like me logo Genes that share domains with SPATA22: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPATA22 Gene

Function for SPATA22 Gene

Molecular function for SPATA22 Gene

UniProtKB/Swiss-Prot Function:
Meiosis-specific protein required for homologous recombination in meiosis I.

Phenotypes From GWAS Catalog for SPATA22 Gene

Gene Ontology (GO) - Molecular Function for SPATA22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SPATA22: view
genes like me logo Genes that share phenotypes with SPATA22: view

Animal Models for SPATA22 Gene

MGI Knock Outs for SPATA22:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA22 Gene

Localization for SPATA22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA22 Gene

Chromosome. Note=Localizes on meiotic chromosome axes. Accumulates on resected DNA. Localization is dependent on MEIOB (By similarity). {ECO:0000250}.

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 SPATA22 gene
Compartment Confidence
mitochondrion 2
nucleus 2
extracellular 0
cytosol 0

Gene Ontology (GO) - Cellular Components for SPATA22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SPATA22: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPATA22 Gene

Pathways & Interactions for SPATA22 Gene

PathCards logo

SuperPathways for SPATA22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000711 meiotic DNA repair synthesis IEA --
GO:0007129 synapsis IEA --
GO:0007276 gamete generation IEA --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with SPATA22: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA22 Gene

Drugs & Compounds for SPATA22 Gene

No Compound Related Data Available

Transcripts for SPATA22 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA22 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2:
SP3: -
SP4: - - - - -
SP5: - - - - -
SP6: - -
SP7: -

Relevant External Links for SPATA22 Gene

GeneLoc Exon Structure for
SPATA22
ECgene alternative splicing isoforms for
SPATA22

Expression for SPATA22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPATA22 Gene

This gene is overexpressed in Testis (x46.0).

Protein differential expression in normal tissues from HIPED for SPATA22 Gene

This gene is overexpressed in Testis (35.7), Ovary (23.9), and Fetal ovary (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA22 Gene



Protein tissue co-expression partners for SPATA22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA22 Gene:

SPATA22

SOURCE GeneReport for Unigene cluster for SPATA22 Gene:

Hs.351068

mRNA Expression by UniProt/SwissProt for SPATA22 Gene:

Q8NHS9-SPT22_HUMAN
Tissue specificity: Highly expressed in adult testis.
genes like me logo Genes that share expression patterns with SPATA22: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA22 Gene

Orthologs for SPATA22 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA22 33 32
  • 98.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPATA22 33 32
  • 86.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Spata22 17 33 32
  • 82.35 (n)
rat
(Rattus norvegicus)
Mammalia Spata22 32
  • 80.74 (n)
dog
(Canis familiaris)
Mammalia SPATA22 33
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA22 33
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPATA22 33
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA22 32
  • 64.89 (n)
lizard
(Anolis carolinensis)
Reptilia SPATA22 33
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata22 32
  • 55.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330730 32
  • 57.28 (n)
Species where no ortholog for SPATA22 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPATA22 Gene

ENSEMBL:
Gene Tree for SPATA22 (if available)
TreeFam:
Gene Tree for SPATA22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPATA22: view image

Paralogs for SPATA22 Gene

No data available for Paralogs for SPATA22 Gene

Variants for SPATA22 Gene

Sequence variations from dbSNP and Humsavar for SPATA22 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1014551540 uncertain-significance, Spongy degeneration of central nervous system 3,489,247(-) G/T genic_upstream_transcript_variant, intron_variant
rs104894548 pathogenic, Spongy degeneration of central nervous system 3,483,520(-) T/C genic_upstream_transcript_variant, intron_variant
rs104894549 pathogenic, Spongy degeneration of central nervous system 3,494,369(-) C/A/T genic_upstream_transcript_variant, intron_variant
rs104894550 pathogenic, Spongy degeneration of central nervous system 3,494,407(-) A/G genic_upstream_transcript_variant, intron_variant
rs104894551 pathogenic, Spongy degeneration of central nervous system 3,476,230(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA22 Gene

Variant ID Type Subtype PubMed ID
esv1173810 CNV deletion 17803354
esv2660206 CNV deletion 23128226
esv3345781 CNV insertion 20981092
esv3892950 CNV loss 25118596
nsv1055740 CNV gain 25217958
nsv1059413 CNV loss 25217958
nsv1060071 CNV loss 25217958
nsv1065489 CNV gain 25217958
nsv521277 CNV gain 19592680
nsv528368 CNV gain 19592680
nsv574232 CNV gain 21841781
nsv574236 CNV gain 21841781
nsv833341 CNV loss 17160897

Variation tolerance for SPATA22 Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.67; 65.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA22 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA22 Gene

Disorders for SPATA22 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPATA22 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPATA22

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 SPATA22: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA22 Gene

Publications for SPATA22 Gene

  1. Meiosis-specific proteins MEIOB and SPATA22 cooperatively associate with the single-stranded DNA-binding replication protein A complex and DNA double-strand breaks. (PMID: 28453612) Xu Y … Wang PJ (Biology of reproduction 2017) 2 3 56
  2. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PMID: 20378615) Aston KI … Carrell DT (Human reproduction (Oxford, England) 2010) 3 43 56
  3. Novel development-related alternative splices in human testis identified by cDNA microarrays. (PMID: 15713825) Huang X … Sha J (Journal of andrology 2005) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for SPATA22 Gene

Sources for SPATA22 Gene