SPATA16 (spermatogenesis associated 16)

Gene

• Entrez ID: 83893
• Gene name: Spermatogenesis associated 16
• Gene symbol: SPATA16
• Synonyms (NCBI Gene): NYD-SP12, SPGF6
• Chromosome: 3
• Chromosome location: 3q26.31
• Summary: This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	12529416
GO:0005794	Component	Golgi apparatus	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA

Other IDs

• MIM: 609856
• HGNC: 29935
• e!Ensembl: ENSG00000144962

Protein

• UniProt ID: Q9BXB7
• Protein name: Spermatogenesis-associated protein 16 (Testis development protein NYD-SP12)
• Protein function: Essential for spermiogenesis and male fertility (By similarity). Involved in the formation of sperm acrosome during spermatogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15015	NYD-SP12_N	5 → 567	Spermatogenesis-associated, N-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:12529416}.
• Sequence:

  MDAGSSRSLENAVNRIYHDQLVPKINTSKKMSTLAHPPNILEMSQEIKKNCGGKQVEITL
  ERTKMTKGIKEKQSNDLEKAAFKRKAEGEEKPTRKKQAKITELDNQLITMPLPHIPLKNI
  MDVEMKLVYIDEMGVRYEFVESFMSTGSQPTCQAAEIVDPLSVHNFSFLPQIDKWLQVAL
  KDASSCYRQKKYALAAGQFRTALELCSKGAVLGEPFDAPAEDIASVASFIETKLVTCYLR
  MRKPDLALNHAHRSIVLNPAYFRNHLRQATVFRCLERYSEAARSAMIADYMFWLGGGREE
  SISKLIKLYWQAMIEEAITRAESFSVMYTPFATKIRADKIEKVKDAFTKTHPAYAEYMYT
  DLQALHMLPQTVDWSSFPPQQYLLTLGFKNKDDGKFLEKISSRKLPIFTEHKTPFGLTRE
  DTVRQMETMGKRILPILDFIRSTQLNGSFPASSGVMEKLQYASLLSQLQRVKEQSQVINQ
  AMAELATIPYLQDISQQEAELLQSLMADAMDTLEGRRNNNERVWNMIQKVGQIEDFLYQL
  EDSFLKTKKLRTARRQKTKMKRLQTVQQR

• Sequence length: 569

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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO ROUND-HEADED SPERMATOZOA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, SPINE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPATA16-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic Failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic failure 6	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	31671693	Inhibit	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35248021, 37895049	Associate	★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	33877510	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24825417	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	17847006, 37895049	Associate	★☆☆☆☆ Found in Text Mining only
Male infertility due to globozoospermia	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic Failure 7	Spermatogenic failure	Pubtator	17847006	Associate	★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 9	Spermatogenic Failure	BEFREE	30912172		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	17847006, 21397063, 24825417, 31985809	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations