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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign	rs508508	RCV005897632
Colorectal cancer	Benign	rs508508	RCV005897634
Malignant lymphoma, large B-cell, diffuse	Benign	rs508508	RCV005897633
SPATA16-related disorder	Likely benign; Uncertain significance; Benign	rs73041295, rs147011314, rs141845742, rs146078455	RCV004758004 RCV003910351 RCV003910397 RCV003910398
Spermatogenic Failure	Uncertain significance	rs143941722, rs886058188, rs528313469	RCV000382509 RCV000272518 RCV000376890
Spermatogenic failure 6	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs137853118, rs115095786, rs763912965, rs146363552, rs141312480, rs189972919, rs566046620, rs143774140, rs73041295, rs16846616, rs1515442, rs1515441, rs16846624, rs146572379, rs200483368, rs150041488, rs199707743, rs368670834, rs776236874, rs55724801, rs886058187, rs140920981, rs200087565, rs758141708, rs886058186, rs544088248, rs508508, rs147011314, rs115897458, rs116466451, rs540340589, rs903704544, rs892103462, rs62622782, rs1732489716, rs774830755, rs138951243, rs758393334, rs200456888, rs780372927, rs144595913, rs143065627, rs558144498, rs372937515, rs1737947552, rs776183936, rs749048781	RCV000001476 RCV000358764 RCV000386087 RCV000284357 RCV000310920 RCV000380877 RCV000327538 RCV000319274 RCV000331613 RCV000402731 RCV000354596 RCV000300819 RCV000355688 RCV000274552 RCV000370363 RCV000326199 RCV000353136 RCV000332674 RCV000288035 RCV000347773 RCV000339414 RCV000304191 RCV000275796 RCV000261704 RCV000262456 RCV000296368 RCV000392766 RCV000406340 RCV001149782 RCV001145366 RCV001148124 RCV001148125 RCV001148126 RCV001148127 RCV001149676 RCV001149677 RCV001145364 RCV001145365 RCV001145367 RCV001147309 RCV001147310 RCV001148232 RCV001148233 RCV001148234 RCV001149781 RCV001149783 RCV001149675 RCV001147308

Associations from Text Mining
Disease Name	Relationship Type	References
Androgen Insensitivity Syndrome	Inhibit	31671693
Azoospermia	Associate	35248021, 37895049
Blindness	Associate	33877510
Infertility	Associate	24825417
Infertility Male	Associate	17847006, 37895049
Inflammation	Associate	28355295
Oligospermia	Associate	35248021
Spermatogenic Failure 7	Associate	17847006
Teratozoospermia	Associate	17847006, 21397063, 24825417, 31985809
Tuberculosis Pulmonary	Associate	28355295