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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 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. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is PRPF4.

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

Promoters for SPAG16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPAG16 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SPAG16 Gene at MOPED

Post-translational modifications for SPAG16 Gene

Antibody Products

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

In Situ Assay 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:0005856 cytoskeleton IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with SPAG16: view

Pathways & Interactions for SPAG16 Gene

SuperPathways for SPAG16 Gene

No Data Available

Interacting Proteins for SPAG16 Gene

Gene Ontology (GO) - Biological Process for SPAG16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042384 cilium assembly ISS --
GO:0051012 microtubule sliding IEA --
GO:0060294 cilium movement involved in cell motility IEA --
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

Drugs & Compounds for SPAG16 Gene

No Compound Related Data Available

Transcripts for SPAG16 Gene

Unigene Clusters for SPAG16 Gene

Sperm associated antigen 16:
Representative Sequences:

Inhibitory RNA 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 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



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

Protein tissue co-expression partners for SPAG16 Gene

Primer Products

In Situ Assay 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 35
  • 99.15 (n)
  • 99.05 (a)
SPAG16 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPAG16 36
  • 82 (a)
OneToOne
SPAG16 35
  • 87.95 (n)
  • 85.51 (a)
dog
(Canis familiaris)
Mammalia SPAG16 35
  • 88.96 (n)
  • 86.78 (a)
-- 36
  • 81 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Spag16 36
  • 74 (a)
OneToOne
Spag16 16
Spag16 35
  • 79.86 (n)
  • 76.44 (a)
oppossum
(Monodelphis domestica)
Mammalia SPAG16 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spag16 35
  • 81.66 (n)
  • 79.94 (a)
chicken
(Gallus gallus)
Aves SPAG16 36
  • 51 (a)
OneToOne
SPAG16 35
  • 64.83 (n)
  • 55.26 (a)
lizard
(Anolis carolinensis)
Reptilia SPAG16 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16242 35
tropical clawed frog
(Silurana tropicalis)
Amphibia spag16 35
  • 61.02 (n)
  • 57.46 (a)
Str.13914 35
zebrafish
(Danio rerio)
Actinopterygii SPAG16 36
  • 47 (a)
OneToOne
LOC100536264 35
  • 56.69 (n)
  • 49.66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP4 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for SPAG16:
  • 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

Pseudogenes.org Pseudogenes 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
rs2042791 - 213,862,497(+) ATGCA(A/C)CCCCA nc-transcript-variant, reference, missense
rs12623569 - 213,930,019(+) ATGTA(A/C)AGGCG intron-variant, nc-transcript-variant, reference, missense
rs10167688 - 213,489,990(+) TGCAA(A/C)CAAAT nc-transcript-variant, reference, missense
rs720015 -- 213,877,347(+) CTTTG(C/T)TGTGT intron-variant
rs721759 -- 214,053,307(-) TTTTT(C/T)TTTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834531 CNV Loss 17160897
nsv875820 CNV Loss 21882294
nsv3152 CNV Insertion 18451855
nsv508884 CNV Insertion 20534489
esv1010545 CNV Insertion 20482838
esv1335096 CNV Insertion 17803354
dgv4431n71 CNV Loss 21882294
nsv428406 CNV Gain+Loss 18775914
nsv834532 CNV Gain 17160897
nsv523669 CNV Loss 19592680
nsv520985 CNV Loss 19592680
esv2721432 CNV Deletion 23290073
nsv834533 CNV Gain 17160897
esv2670902 CNV Deletion 23128226
esv2721433 CNV Deletion 23290073
esv2661130 CNV Deletion 23128226
esv2666545 CNV Deletion 23128226
esv2668503 CNV Deletion 23128226
nsv511092 CNV Complex 20534489
esv4596 CNV Deletion 18987735
esv2238037 CNV Deletion 18987734
esv2721434 CNV Deletion 23290073
esv1286091 CNV Deletion 17803354
esv267963 CNV Insertion 20981092
nsv527687 CNV Loss 19592680
esv2674107 CNV Deletion 23128226
nsv214963 CNV Loss 16902084
nsv528970 CNV Loss 19592680
nsv875823 CNV Loss 21882294
nsv875824 CNV Loss 21882294
esv2581361 CNV Deletion 19546169
esv26572 CNV Loss 19812545
nsv213247 CNV Insertion 16902084
esv2721435 CNV Deletion 23290073
esv1440695 CNV Insertion 17803354
esv1770635 CNV Insertion 17803354
dgv4432n71 CNV Loss 21882294
nsv875826 CNV Gain 21882294
nsv875827 CNV Loss 21882294
esv269956 CNV Insertion 20981092
esv2671825 CNV Deletion 23128226
nsv508127 CNV Loss 20534489
esv2421051 CNV Deletion 18987734
esv2721436 CNV Deletion 23290073
esv6741 CNV Loss 19470904
nsv214436 CNV Loss 16902084
esv2742312 CNV Deletion 23290073
esv2721437 CNV Deletion 23290073
esv2202966 CNV Deletion 18987734
esv1486943 CNV Deletion 17803354
esv995716 CNV Deletion 20482838
nsv213260 CNV Loss 16902084
nsv3153 CNV Insertion 18451855
esv2721438 CNV Deletion 23290073
esv2666218 CNV Deletion 23128226
esv2474779 CNV Deletion 19546169
esv2144910 CNV Deletion 18987734
esv268657 CNV Insertion 20981092
nsv821894 CNV Loss 20364138
esv2677096 CNV Deletion 23128226
esv28344 CNV Loss 19812545
nsv215392 CNV Loss 16902084
esv2721440 CNV Deletion 23290073
esv2663252 CNV Deletion 23128226
nsv834534 CNV Loss 17160897
esv2721441 CNV Deletion 23290073
esv2666614 CNV Deletion 23128226
esv2006955 CNV Deletion 18987734
esv2676709 CNV Deletion 23128226
nsv3155 CNV Loss 18451855
nsv875829 CNV Gain 21882294
nsv519662 CNV Gain 19592680
esv2529046 CNV Deletion 19546169
esv267863 CNV Insertion 20981092
esv272296 CNV Insertion 20981092
esv1554289 CNV Insertion 17803354
nsv508128 CNV Loss 20534489

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

HapMap Linkage Disequilibrium report
SPAG16
Human Gene Mutation Database (HGMD)
SPAG16

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

Disorders for SPAG16 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tenosynovitis
  • inflammation of tendon sheath
- 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 67
  2. 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 23
  3. 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. Identification of a genetic variant for joint damage progression in autoantibody-positive rheumatoid arthritis. (PMID: 23956247) Knevel R. … van der Helm-van Mil A.H. (Ann. Rheum. Dis. 2014) 3
  5. Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. (PMID: 24152035) Goodbourn P.T. … Mollon J.D. (Genes Brain Behav. 2014) 3

Products for SPAG16 Gene

Sources for SPAG16 Gene

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