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Aliases for SPAG16 Gene

Aliases for SPAG16 Gene

  • Sperm Associated Antigen 16 2 3 5
  • Pf20 Protein Homolog 3 4
  • PF20 3 4
  • Sperm-Associated Antigen 16 Protein 3
  • Sperm-Associated WD Repeat Protein 3
  • WD Repeat Domain 29 3
  • WDR29 3

External Ids for SPAG16 Gene

Previous GeneCards Identifiers for SPAG16 Gene

  • GC02P213974
  • GC02P213857
  • GC02P214149
  • GC02P206000

Summaries for SPAG16 Gene

Entrez Gene Summary for SPAG16 Gene

  • 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 germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]

GeneCards Summary for SPAG16 Gene

SPAG16 (Sperm Associated Antigen 16) is a Protein Coding gene. Diseases associated with SPAG16 include Tenosynovitis and Visceral Heterotaxy. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is TAF5.

UniProtKB/Swiss-Prot for SPAG16 Gene

  • 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 similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG16 Gene

Genomics for SPAG16 Gene

Regulatory Elements for SPAG16 Gene

Enhancers for SPAG16 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F213407 0.2 ENCODE 13.9 +124.6 124625 2.6 SPAG16 GC02P213411 GC02P213397 PIR41828
GH02F213306 0.8 ENCODE 11.3 +22.3 22317 0.6 SPAG16 LOC100130451 PIR41828 GC02P213397
GH02F213251 1 Ensembl ENCODE 10.8 -32.6 -32579 0.4 CTCF BACH1 ZNF384 RAD21 ZNF316 SMC3 NFE2 MAFK NFE2L2 GATAD2A LOC100130451 SPAG16 ENSG00000272519 LOC105373864
GH02F213229 1.3 FANTOM5 Ensembl ENCODE 10.6 -54.5 -54487 1.0 SOX13 SOX5 TFAP4 PKNOX1 CEBPB JUNB CEBPG ZNF518A POLR2A CEBPA LOC100130451 SPAG16 ENSG00000272519 LOC105373864
GH02F213227 0.6 Ensembl 10.6 -56.7 -56727 0.5 MTA2 ZBED1 CBFB JUNB EBF1 EP300 RELA SP1 CBX5 EED SPAG16 LOC100130451 ENSG00000272519 LOC105373864
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPAG16 on UCSC Golden Path with GeneCards custom track

Promoters for SPAG16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000606824 221 2401 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for SPAG16 Gene

Chromosome:
2
Start:
213,284,379 bp from pter
End:
214,410,501 bp from pter
Size:
1,126,123 bases
Orientation:
Plus strand

Genomic View for SPAG16 Gene

Genes around SPAG16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAG16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG16 Gene

Proteins for SPAG16 Gene

  • Protein details for SPAG16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0X2-SPG16_HUMAN
    Recommended name:
    Sperm-associated antigen 16 protein
    Protein Accession:
    Q8N0X2
    Secondary Accessions:
    • Q498B7
    • Q658W1
    • Q68DB3
    • Q6I9Z6
    • Q8N9C7
    • Q9H601

    Protein attributes for SPAG16 Gene

    Size:
    631 amino acids
    Molecular mass:
    70818 Da
    Quaternary structure:
    • Interacts with SPAG6 and STK36.

    Alternative splice isoforms for SPAG16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPAG16 Gene

Post-translational modifications for SPAG16 Gene

No data available for DME Specific Peptides for SPAG16 Gene

Domains & Families for SPAG16 Gene

Gene Families for SPAG16 Gene

Suggested Antigen Peptide Sequences for SPAG16 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N0X2

UniProtKB/Swiss-Prot:

SPG16_HUMAN :
  • Contains 7 WD repeats.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with SPAG16: view

Function for SPAG16 Gene

Molecular function for SPAG16 Gene

UniProtKB/Swiss-Prot 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 similarity).

Phenotypes for SPAG16 Gene

genes like me logo Genes that share phenotypes with SPAG16: view

Animal Models for SPAG16 Gene

MGI Knock Outs for SPAG16:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPAG16 Gene

Localization for SPAG16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG16 Gene

Cytoplasm. Cytoplasm, cytoskeleton, flagellum axoneme. Cytoplasm, cytoskeleton, cilium axoneme. Note=Detected on the sperm flagellum axoneme. Detected in the central apparatus of the axoneme. Colocalizes with SPAG6 on microtubules (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPAG16 Gene COMPARTMENTS Subcellular localization image for SPAG16 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for SPAG16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with SPAG16: view

Pathways & Interactions for SPAG16 Gene

SuperPathways for SPAG16 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPAG16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007288 sperm axoneme assembly IEA --
GO:0030030 cell projection organization IEA --
GO:0035082 axoneme assembly IMP 17699735
GO:0051012 microtubule sliding IEA --
GO:0060271 cilium assembly ISS --
genes like me logo Genes that share ontologies with SPAG16: view

No data available for Pathways by source and SIGNOR curated interactions for SPAG16 Gene

Transcripts for SPAG16 Gene

Unigene Clusters for SPAG16 Gene

Sperm associated antigen 16:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG16 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: - -
SP2: -

Relevant External Links for SPAG16 Gene

GeneLoc Exon Structure for
SPAG16
ECgene alternative splicing isoforms for
SPAG16

Expression for SPAG16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPAG16 Gene

Protein differential expression in normal tissues from HIPED for SPAG16 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (59.7) and Testis (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPAG16 Gene



Protein tissue co-expression partners for SPAG16 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPAG16 Gene:

SPAG16

SOURCE GeneReport for Unigene cluster for SPAG16 Gene:

Hs.743365

mRNA Expression by UniProt/SwissProt for SPAG16 Gene:

Q8N0X2-SPG16_HUMAN
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.
genes like me logo Genes that share expression patterns with SPAG16: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPAG16 Gene

Orthologs for SPAG16 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPAG16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG16 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia SPAG16 34
  • 88.96 (n)
-- 35
  • 88 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SPAG16 34 35
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia Spag16 34
  • 81.66 (n)
mouse
(Mus musculus)
Mammalia Spag16 34 16 35
  • 79.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SPAG16 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPAG16 34 35
  • 64.83 (n)
lizard
(Anolis carolinensis)
Reptilia SPAG16 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spag16 34
  • 61.02 (n)
Str.13914 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16242 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536264 34
  • 56.69 (n)
SPAG16 35
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP4 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for SPAG16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPAG16 Gene

ENSEMBL:
Gene Tree for SPAG16 (if available)
TreeFam:
Gene Tree for SPAG16 (if available)

Paralogs for SPAG16 Gene

Paralogs for SPAG16 Gene

genes like me logo Genes that share paralogs with SPAG16: view

Variants for SPAG16 Gene

Sequence variations from dbSNP and Humsavar for SPAG16 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10006534 -- 213,356,760(+) CTGTT(C/T)TGATC intron-variant
rs10084198 -- 213,721,131(+) AGTCT(C/T)TCTCT intron-variant
rs10084205 -- 213,721,217(+) CCTCA(A/G)CCTCC intron-variant
rs10084470 -- 213,719,568(+) GATAA(C/G)AGAAT intron-variant
rs1012556 -- 213,324,867(-) aattc(G/T)catgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPAG16 Gene

Variant ID Type Subtype PubMed ID
dgv1211e212 CNV loss 25503493
dgv1212e212 CNV loss 25503493
dgv1213e212 CNV loss 25503493
dgv1214e212 CNV gain 25503493
dgv2144n106 CNV deletion 24896259
dgv2145n106 CNV deletion 24896259
dgv2146n106 CNV deletion 24896259
dgv260e215 CNV deletion 23714750
esv1010545 CNV insertion 20482838
esv1286091 CNV deletion 17803354
esv1335096 CNV insertion 17803354
esv1440695 CNV insertion 17803354
esv1486943 CNV deletion 17803354
esv1554289 CNV insertion 17803354
esv1770635 CNV insertion 17803354
esv2006955 CNV deletion 18987734
esv2144910 CNV deletion 18987734
esv2202966 CNV deletion 18987734
esv2238037 CNV deletion 18987734
esv2421051 CNV deletion 18987734
esv2474779 CNV deletion 19546169
esv2529046 CNV deletion 19546169
esv2581361 CNV deletion 19546169
esv26572 CNV loss 19812545
esv2661130 CNV deletion 23128226
esv2663252 CNV deletion 23128226
esv2666218 CNV deletion 23128226
esv2666545 CNV deletion 23128226
esv2666614 CNV deletion 23128226
esv2668503 CNV deletion 23128226
esv2670902 CNV deletion 23128226
esv2671825 CNV deletion 23128226
esv2674107 CNV deletion 23128226
esv2676709 CNV deletion 23128226
esv2677096 CNV deletion 23128226
esv2721432 CNV deletion 23290073
esv2721433 CNV deletion 23290073
esv2721434 CNV deletion 23290073
esv2721435 CNV deletion 23290073
esv2721436 CNV deletion 23290073
esv2721437 CNV deletion 23290073
esv2721438 CNV deletion 23290073
esv2721440 CNV deletion 23290073
esv2721441 CNV deletion 23290073
esv2742312 CNV deletion 23290073
esv2762304 CNV loss 21179565
esv28344 CNV loss 19812545
esv3303584 CNV mobile element insertion 20981092
esv3303684 CNV mobile element insertion 20981092
esv3304379 CNV mobile element insertion 20981092
esv3305679 CNV mobile element insertion 20981092
esv3308022 CNV mobile element insertion 20981092
esv3334863 CNV insertion 20981092
esv3361420 CNV insertion 20981092
esv3367102 CNV insertion 20981092
esv3372317 CNV insertion 20981092
esv3376681 CNV insertion 20981092
esv3402178 CNV insertion 20981092
esv3409432 CNV insertion 20981092
esv3416462 CNV insertion 20981092
esv3424554 CNV insertion 20981092
esv3560946 CNV deletion 23714750
esv3560949 CNV deletion 23714750
esv3560954 CNV deletion 23714750
esv3560955 CNV deletion 23714750
esv3560956 CNV deletion 23714750
esv3560958 CNV deletion 23714750
esv3560963 CNV deletion 23714750
esv3575329 CNV gain 25503493
esv3584338 CNV loss 25503493
esv3584347 CNV loss 25503493
esv3594230 CNV loss 21293372
esv3594231 CNV loss 21293372
esv3594232 CNV gain 21293372
esv3594233 CNV loss 21293372
esv3594234 CNV loss 21293372
esv3594235 CNV loss 21293372
esv3594236 CNV loss 21293372
esv3594238 CNV loss 21293372
esv3594240 CNV loss 21293372
esv3594242 CNV loss 21293372
esv3594244 CNV loss 21293372
esv3594245 CNV loss 21293372
esv3594248 CNV loss 21293372
esv3594251 CNV loss 21293372
esv3594253 CNV loss 21293372
esv3594254 CNV loss 21293372
esv3594255 CNV gain 21293372
esv3594256 CNV loss 21293372
esv3893550 CNV loss 25118596
esv3893551 CNV loss 25118596
esv4596 CNV loss 18987735
esv6741 CNV loss 19470904
esv995716 CNV deletion 20482838
nsv1001070 CNV gain 25217958
nsv1009973 CNV gain 25217958
nsv1013206 CNV loss 25217958
nsv1013630 CNV loss 25217958
nsv1070343 CNV deletion 25765185
nsv1072492 CNV deletion 25765185
nsv1072493 CNV deletion 25765185
nsv1109327 CNV deletion 24896259
nsv1109328 CNV deletion 24896259
nsv1110935 OTHER inversion 24896259
nsv1114169 CNV deletion 24896259
nsv1114170 CNV deletion 24896259
nsv1117274 CNV tandem duplication 24896259
nsv1123427 CNV deletion 24896259
nsv1127798 CNV deletion 24896259
nsv1136469 CNV deletion 24896259
nsv1146234 CNV deletion 26484159
nsv1151242 CNV deletion 26484159
nsv213247 CNV insertion 16902084
nsv213260 CNV deletion 16902084
nsv214436 CNV deletion 16902084
nsv214963 CNV deletion 16902084
nsv215392 CNV deletion 16902084
nsv3152 CNV insertion 18451855
nsv3153 CNV insertion 18451855
nsv3155 CNV deletion 18451855
nsv428406 CNV gain+loss 18775914
nsv477321 CNV novel sequence insertion 20440878
nsv508127 OTHER sequence alteration 20534489
nsv508128 OTHER sequence alteration 20534489
nsv508884 CNV insertion 20534489
nsv511092 OTHER complex 20534489
nsv519662 CNV gain 19592680
nsv520985 CNV loss 19592680
nsv523669 CNV loss 19592680
nsv527687 CNV loss 19592680
nsv528970 CNV loss 19592680
nsv584430 CNV loss 21841781
nsv584431 CNV loss 21841781
nsv584432 CNV loss 21841781
nsv584433 CNV loss 21841781
nsv584434 CNV loss 21841781
nsv584435 CNV gain 21841781
nsv821894 CNV loss 20364138
nsv834531 CNV loss 17160897
nsv834532 CNV gain 17160897
nsv834533 CNV gain 17160897
nsv834534 CNV loss 17160897
nsv955016 CNV deletion 24416366
nsv955046 CNV deletion 24416366
nsv955051 CNV deletion 24416366
nsv955079 CNV deletion 24416366
nsv961556 CNV duplication 23825009
nsv999323 CNV loss 25217958

Variation tolerance for SPAG16 Gene

Residual Variation Intolerance Score: 33.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.71; 89.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG16 Gene

Human Gene Mutation Database (HGMD)
SPAG16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAG16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG16 Gene

Disorders for SPAG16 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPAG16 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tenosynovitis
  • inflammation of tendon sheath
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPAG16

Genetic Association Database (GAD)
SPAG16
Human Genome Epidemiology (HuGE) Navigator
SPAG16
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG16
genes like me logo Genes that share disorders with SPAG16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPAG16 Gene

Publications for SPAG16 Gene

  1. Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella. (PMID: 11867345) Pennarun G. … Duriez B. (Am. J. Respir. Cell Mol. Biol. 2002) 2 3 4 64
  2. A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas PF16. (PMID: 12391165) Zhang Z. … Strauss J.F. III (Mol. Cell. Biol. 2002) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene. (PMID: 20463177) Hersh C.P. … Silverman E.K. (Am. J. Respir. Crit. Care Med. 2010) 3 46 64
  5. A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme. (PMID: 17699735) Zhang Z. … Strauss J.F.III. (Biol. Reprod. 2007) 3 22 64

Products for SPAG16 Gene

Sources for SPAG16 Gene

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