SPATA24 (spermatogenesis associated 24)

Gene

• Entrez ID: 202051
• Gene name: Spermatogenesis associated 24
• Gene symbol: SPATA24
• Synonyms (NCBI Gene): CCDC161, T6441
• Chromosome: 5
• Chromosome location: 5q31.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007283	Process	Spermatogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IEA

Other IDs

• MIM: 621086
• HGNC: 27322
• e!Ensembl: ENSG00000170469

Protein

• UniProt ID: Q86W54
• Protein name: Spermatogenesis-associated protein 24 (Testis protein T6441 homolog)
• Protein function: Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of TATA box-containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in cytoplasm movement
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15175	SPATA24	10 → 191	Spermatogenesis-associated protein 24	Family

• Sequence:

  MATPLGWSKAGSGSVCLALDQLRDVIESQEELIHQLRNVMVLQDENFVSKEEFQAVEKKL
  VEEKAAHAKTKVLLAKEEEKLQFALGEVEVLSKQLEKEKLAFEKALSSVKSKVLQESSKK
  DQLITKCNEIESHIIKQEDILNGKENEIKELQQVISQQKQIFRNHMSDFRIQKQQESYMA
  QVLDQKHKKASGTRQARSHQHPREK

• Sequence length: 205

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
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations