Gene Gene information from NCBI Gene database.
Entrez ID 79582
Gene name Sperm associated antigen 16
Gene symbol SPAG16
Synonyms (NCBI Gene)
PF20WDR29
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 miRNA information provided by mirtarbase database.
80
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612173 23225 ENSG00000144451
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
WD
LCKGDCILTFEGHSRAVWSCTWHSCGNFVASSSLDKTSKIWDVNSERCRCTLYGHTDS
VNSIEFFPFSNTLLTSSADKTLSIWD
ARTGICEQSLYGHMHSINDAIFDPRGHMIASCDA
CGVTKLWD
FRKLLPIVSIDIGPSPGNEVNFDSSGRVLAQASGNGVIHLLDLKSGEIHKLM
GHENEAHTVVFSHDGEILFSGGSDGTVRTWS
Sequence length 631
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita Uncertain significance rs535028567, rs1309397122 RCV000855518
RCV000855519
Fetal akinesia deformation sequence 1 Uncertain significance rs535028567, rs1309397122 RCV000855518
RCV000855519
SPAG16-related disorder Likely benign rs368338111 RCV003921798
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 23956247, 36434627
Bipolar Disorder Associate 24387768
Ciliary Motility Disorders Associate 30300419, 34445527
Colorectal Neoplasms Associate 37434131
Diabetes Mellitus Type 2 Associate 26634513
Infertility Male Associate 22963137
Joint Diseases Associate 23956247
Neuralgia Associate 24387768
Neuroblastoma Associate 23243203
Ocular Motility Disorders Associate 22963137