SPATA22 (spermatogenesis associated 22)

Gene

• Entrez ID: 84690
• Gene name: Spermatogenesis associated 22
• Gene symbol: SPATA22
• Synonyms (NCBI Gene): NYD-SP20, NYDSP20, POF25, SPGF96
• Chromosome: 17
• Chromosome location: 17p13.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000711	Process	Meiotic DNA repair synthesis	IEA
GO:0000711	Process	Meiotic DNA repair synthesis	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007276	Process	Gamete generation	IEA
GO:0007276	Process	Gamete generation	IEA
GO:0009566	Process	Fertilization	IEA
GO:0048137	Process	Spermatocyte division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051445	Process	Regulation of meiotic cell cycle	IBA
GO:0051445	Process	Regulation of meiotic cell cycle	IEA
GO:0061458	Process	Reproductive system development	IEA

Other IDs

• MIM: 617673
• HGNC: 30705
• e!Ensembl: ENSG00000141255

Protein

• UniProt ID: Q8NHS9
• Protein name: Spermatogenesis-associated protein 22 (Testis development protein NYD-SP20)
• Protein function: Meiosis-specific protein required for homologous recombination in meiosis I.
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult testis. {ECO:0000269|PubMed:15713825}.
• Sequence:

  MKRSLNENSARSTAGCLPVPLFNQKKRNRQPLTSNPLKDDSGISTPSDNYDFPPLPTDWA
  WEAVNPELAPVMKTVDTGQIPHSVSRPLRSQDSVFNSIQSNTGRSQGGWSYRDGNKNTSL
  KTWNKNDFKPQCKRTNLVANDGKNSCPVSSGAQQQKQLRIPEPPNLSRNKETELLRQTHS
  SKISGCTMRGLDKNSALQTLKPNFQQNQYKKQMLDDIPEDNTLKETSLYQLQFKEKASSL
  RIISAVIESMKYWREHAQKTVLLFEVLAVLDSAVTPGPYYSKTFLMRDGKNTLPCVFYEI
  DRELPRLIRGRVHRCVGNYDQKKNIFQCVSVRPASVSEQKTFQAFVKIADVEMQYYINVM
  NET

• Sequence length: 363

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANAVAN DIS FAMILIAL FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANAVAN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRASER SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC INFERTILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLMSTED SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE 25	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 96	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	23675907	Associate	★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	CLINVAR_DG	10407784, 10701101, 10909858, 12205125, 12638939, 16138249, 16217711, 16437572, 16802711, 16854607, 17027983, 17194761, 17391648, 17999961, 18070137, 18978679, 19685155, 20129749, 21228398, 21907889, 22019069, 22219087, 22611636, 22750302, 22850825, 22878930, 23233226, 23253610, 23971085, 25003821, 25107638, 26586007, 27927234, 7668285, 8023850, 8037206, 8252036, 8659549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Canavan Disease, Familial Form	Canavan Disease	CLINVAR_DG	10407784, 10701101, 10909858, 11238686, 12638939, 16854607, 18978679, 22019069, 22850825, 22878930, 23253610, 8023850, 8252036, 8659549		★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23049088		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31000419		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31000419		★☆☆☆☆ Found in Text Mining only