SPAG16 (sperm associated antigen 16)

Gene

• Entrez ID: 79582
• Gene name: Sperm associated antigen 16
• Gene symbol: SPAG16
• Synonyms (NCBI Gene): PF20, WDR29
• Chromosome: 2
• Chromosome location: 2q34
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT712970	hsa-miR-3662	HITS-CLIP	19536157
MIRT712969	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT712968	hsa-miR-6828-5p	HITS-CLIP	19536157
MIRT712970	hsa-miR-3662	HITS-CLIP	19536157
MIRT712969	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT712968	hsa-miR-6828-5p	HITS-CLIP	19536157
MIRT643600	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643599	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT643598	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT643597	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT643596	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT643595	hsa-miR-1260a	HITS-CLIP	23824327
MIRT643594	hsa-miR-1260b	HITS-CLIP	23824327
MIRT643593	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT643592	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT643591	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT643600	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643599	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT643598	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT643597	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT643596	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT643595	hsa-miR-1260a	HITS-CLIP	23824327
MIRT643594	hsa-miR-1260b	HITS-CLIP	23824327
MIRT643593	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT643592	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT643591	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT712970	hsa-miR-3662	HITS-CLIP	19536157
MIRT712969	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT712968	hsa-miR-6828-5p	HITS-CLIP	19536157
MIRT712970	hsa-miR-3662	HITS-CLIP	19536157
MIRT712969	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT712968	hsa-miR-6828-5p	HITS-CLIP	19536157
MIRT643600	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643599	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT643598	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT643597	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT643596	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT643595	hsa-miR-1260a	HITS-CLIP	23824327
MIRT643594	hsa-miR-1260b	HITS-CLIP	23824327
MIRT643593	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT643592	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT643591	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT643600	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643599	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT643598	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT643597	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT643596	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT643595	hsa-miR-1260a	HITS-CLIP	23824327
MIRT643594	hsa-miR-1260b	HITS-CLIP	23824327
MIRT643593	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT643592	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT643591	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT2114208	hsa-miR-4528	CLIP-seq
MIRT2114209	hsa-miR-656	CLIP-seq
MIRT2433373	hsa-miR-1237	CLIP-seq
MIRT2433374	hsa-miR-1248	CLIP-seq
MIRT2433375	hsa-miR-1299	CLIP-seq
MIRT2433376	hsa-miR-1305	CLIP-seq
MIRT2433377	hsa-miR-3671	CLIP-seq
MIRT2433378	hsa-miR-4434	CLIP-seq
MIRT2433379	hsa-miR-4516	CLIP-seq
MIRT2433380	hsa-miR-4531	CLIP-seq
MIRT2433381	hsa-miR-4782-5p	CLIP-seq
MIRT2433382	hsa-miR-516b	CLIP-seq
MIRT2433383	hsa-miR-607	CLIP-seq
MIRT2114208	hsa-miR-4528	CLIP-seq
MIRT2114208	hsa-miR-4528	CLIP-seq
MIRT2114208	hsa-miR-4528	CLIP-seq
MIRT2114209	hsa-miR-656	CLIP-seq
MIRT2433373	hsa-miR-1237	CLIP-seq
MIRT2433374	hsa-miR-1248	CLIP-seq
MIRT2433375	hsa-miR-1299	CLIP-seq
MIRT2433378	hsa-miR-4434	CLIP-seq
MIRT2433379	hsa-miR-4516	CLIP-seq
MIRT2114208	hsa-miR-4528	CLIP-seq
MIRT2433380	hsa-miR-4531	CLIP-seq
MIRT2433381	hsa-miR-4782-5p	CLIP-seq
MIRT2691799	hsa-miR-4795-3p	CLIP-seq
MIRT2433382	hsa-miR-516b	CLIP-seq
MIRT2114209	hsa-miR-656	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	IMP	17699735
GO:0036126	Component	Sperm flagellum	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0120197	Process	Mucociliary clearance	IEA
GO:1990716	Component	Axonemal central apparatus	IBA
GO:1990716	Component	Axonemal central apparatus	IEA

Other IDs

• MIM: 612173
• HGNC: 23225
• e!Ensembl: ENSG00000144451

Protein

• UniProt ID: Q8N0X2
• Protein name: Sperm-associated antigen 16 protein (Pf20 protein homolog)
• Protein function: Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By sim
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	383 → 422	WD domain, G-beta repeat	Repeat
  PF00400	WD40	426 → 464	WD domain, G-beta repeat	Repeat
  PF00400	WD40	468 → 506	WD domain, G-beta repeat	Repeat
  PF00400	WD40	510 → 548	WD domain, G-beta repeat	Repeat
  PF00400	WD40	594 → 631	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is detected in testis. Isoform 4 is detected in testis and brain, and at lower levels in kidney, heart, pancreas, thyroid, ovary, adrenal gland, spinal cord, trachea and liver. {ECO:0000269|PubMed:11867345, ECO:0000269|PubMed
• Sequence:

  MAAQRGMPSSAVRVLEEALGMGLTAAGDARDTADAVAAEGAYYLEQVTITEASEDDYEYE
  EIPDDNFSIPEGEEDLAKAIQMAQEQATDTEILERKTVLPSKHAVPEVIEDFLCNFLIKM
  GMTRTLDCFQSEWYELIQKGVTELRTVGNVPDVYTQIMLLENENKNLKKDLKHYKQAADK
  AREDLLKIQKERDFHRMHHKRIVQEKNKLINDLKGLKLHYASYEPTIRVLHEKHHTLLKE
  KMLTSLERDKVVGQISGLQETLKKLQRGHSYHGPQIKVDHSREKENAPEGPTQKGLREAR
  EQNKCKTKMKGNTKDSEFPIDMQPNPNLNVSKESLSPAKFDYKLKNIFRLHELPVSCVSM
  QPHKDILVSCGEDRLWKVLGLPKCNVLLTGFGHTDWLSDCCFHPSGDKLATSSGDTTVKL
  WDLCKGDCILTFEGHSRAVWSCTWHSCGNFVASSSLDKTSKIWDVNSERCRCTLYGHTDS
  VNSIEFFPFSNTLLTSSADKTLSIWDARTGICEQSLYGHMHSINDAIFDPRGHMIASCDA
  CGVTKLWDFRKLLPIVSIDIGPSPGNEVNFDSSGRVLAQASGNGVIHLLDLKSGEIHKLM
  GHENEAHTVVFSHDGEILFSGGSDGTVRTWS

• Sequence length: 631

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPAG16-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ 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
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23956247, 36434627	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	22963137		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	30478444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24387768	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	30300419, 34445527	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37434131	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	26577108		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26634513	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	22963137	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21150711		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23243203	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34252604	Associate	★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	22963137	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	10936030		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	10936030		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23956247		★☆☆☆☆ Found in Text Mining only