• Gene id: 79582

Gene Summary

• Gene Symbol: SPAG16   Gene   UCSC   Ensembl
• Aliases: PF20, WDR29
• Gene name: sperm associated antigen 16
• Alternate names: sperm-associated antigen 16 protein, WD repeat domain 29, pf20 protein homolog, sperm-associated WD repeat protein,
• Gene location: 2q34 (213284368: 214410500)     Exons: 34     NC_000002.12
• Gene summary(Entrez): Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic
• OMIM: 612173

SNPs

rs28606463

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213929934C>T
NC_000002.11   g.214794658C>T|SEQ=[C/T]|GENE=SPAG16

rs16851495

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214108287G>A
NC_000002.11   g.214973011G>A|SEQ=[G/A]|GENE=SPAG16

rs12988374

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410278C>T
NC_000002.11   g.215275002C>T
NM_024532.5   c.1859C>T
NM_024532.4   c.1859C>T
XM_011511823.3   c.1550C>T
XM_011511821.2   c.1577C>T
XM_011511819.2   c.1697C>T
XM_011511820.2   c.1673C>T
XM_017004897.1   c.1502C>T
NR_047659.1   n.2139C>T
XM_  

rs12988372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410273C>A
NC_000002.12   g.214410273C>T
NC_000002.11   g.215274997C>A
NC_000002.11   g.215274997C>T
NM_024532.5   c.1854C>A
NM_024532.5   c.1854C>T
NM_024532.4   c.1854C>A
NM_024532.4   c.1854C>T
XM_011511823.3   c.1545C>A
XM_011511823.3   c.1545C>T
  

rs12623569

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213930019A>C
NC_000002.11   g.214794743A>C
NM_024532.5   c.1274A>C
NM_024532.4   c.1274A>C
XM_011511823.3   c.965A>C
XM_011511816.3   c.1274A>C
XM_011511821.2   c.992A>C
XM_011511819.2   c.1112A>C
XM_011511815.2   c.1274A>C
XM_011511817.2   c.1274A>C
XM  

rs10167688

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213489990C>A
NC_000002.11   g.214354714C>A
NM_024532.5   c.970C>A
NM_024532.4   c.970C>A
XM_011511823.3   c.661C>A
XM_011511816.3   c.970C>A
XM_011511821.2   c.688C>A
XM_011511819.2   c.808C>A
XM_011511820.2   c.970C>A
XM_011511815.2   c.970C>A
XM_01151  

Protein Summary

• Protein general information: Q8N0X2  
  • Name: Sperm associated antigen 16 protein (Pf20 protein homolog)
  • Length: 631  
  • Mass: 70,818
• Sequence:

  MAAQRGMPSSAVRVLEEALGMGLTAAGDARDTADAVAAEGAYYLEQVTITEASEDDYEYEEIPDDNFSIPEGEED
  LAKAIQMAQEQATDTEILERKTVLPSKHAVPEVIEDFLCNFLIKMGMTRTLDCFQSEWYELIQKGVTELRTVGNV
  PDVYTQIMLLENENKNLKKDLKHYKQAADKAREDLLKIQKERDFHRMHHKRIVQEKNKLINDLKGLKLHYASYEP
  TIRVLHEKHHTLLKEKMLTSLERDKVVGQISGLQETLKKLQRGHSYHGPQIKVDHSREKENAPEGPTQKGLREAR
  EQNKCKTKMKGNTKDSEFPIDMQPNPNLNVSKESLSPAKFDYKLKNIFRLHELPVSCVSMQPHKDILVSCGEDRL
  WKVLGLPKCNVLLTGFGHTDWLSDCCFHPSGDKLATSSGDTTVKLWDLCKGDCILTFEGHSRAVWSCTWHSCGNF
  VASSSLDKTSKIWDVNSERCRCTLYGHTDSVNSIEFFPFSNTLLTSSADKTLSIWDARTGICEQSLYGHMHSIND
  AIFDPRGHMIASCDACGVTKLWDFRKLLPIVSIDIGPSPGNEVNFDSSGRVLAQASGNGVIHLLDLKSGEIHKLM
  GHENEAHTVVFSHDGEILFSGGSDGTVRTWS

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000332592
• Other Databases: GeneCards:  SPAG16  Malacards:  SPAG16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0007288	sperm axoneme assembly	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0035082	axoneme assembly	IMP	biological process
GO:0051012	microtubule sliding	IEA	biological process
GO:0060294	cilium movement involved in cell motility	IEA	biological process
GO:0097231	cell motility in response to calcium ion	IEA	biological process
GO:1990716	axonemal central apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0007288	sperm axoneme assembly	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0035082	axoneme assembly	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0051012	microtubule sliding	IEA	biological process
GO:0060294	cilium movement involved in cell motility	IEA	biological process
GO:0097231	cell motility in response to calcium ion	IEA	biological process
GO:1990716	axonemal central apparatus	IEA	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0035082	axoneme assembly	IMP	biological process

Diseases

Associated diseases	References
Albuminuria	GAD: 17903292
Bone diseases	GAD: 17903296
Spermatogenesis defects	MIK: 22963137
Male factor infertility	MIK: 22963137
Chronic obstructive pulmonary disease (COPD)	GAD: 20463177
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 16382026
Male infertility	MIK: 22963137
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22963137	Reduced sperm motility, male infertilit		Italian	60 infertile male volunteers	Male infertility	SPAG16
16382026	Essential for sperm flagellar function				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq