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Aliases for SPAG17 Gene

Aliases for SPAG17 Gene

  • Sperm Associated Antigen 17 2 3 5
  • Projection Protein PF6 Homolog 3 4
  • Sperm-Associated Antigen 17 3
  • CT143 3
  • PF6 3

External Ids for SPAG17 Gene

Previous GeneCards Identifiers for SPAG17 Gene

  • GC01M118209
  • GC01M118297
  • GC01M118496
  • GC01M116352

Summaries for SPAG17 Gene

Entrez Gene Summary for SPAG17 Gene

  • This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]

GeneCards Summary for SPAG17 Gene

SPAG17 (Sperm Associated Antigen 17) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SPAG17 Gene

  • Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG17 Gene

Genomics for SPAG17 Gene

Regulatory Elements for SPAG17 Gene

Enhancers for SPAG17 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
GH01G118115 1.1 ENCODE dbSUPER 9.4 +68.5 68466 1.8 SOX13 PKNOX1 FOXA2 SAP130 SIN3A THRB RARA GATA3 GATA4 FOS SPAG17 GC01M118065 GC01M118154
GH01G118135 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +49.0 49043 2.1 BHLHE40 ZSCAN4 JUNB ZFHX2 ZNF776 EGR1 EED IKZF1 SCRT2 ETV6 SPAG17 GC01M118154 GC01M118065
GH01G118184 1 ENCODE 7.8 +0.0 43 1.2 ATF1 CREB3L1 SIN3A ZNF2 TCF12 ZNF766 GATA2 KLF13 ZNF263 SP3 SPAG17 GC01M118154
GH01G118081 0.7 ENCODE 8.2 +103.6 103643 0.2 ZNF687 ZSCAN26 SIN3A MNT DPF2 RAD21 FOXA1 ZNF217 CTBP1 JUND ENSG00000271427 SPAG17 GC01M118065 GC01M118154
GH01G118147 0.7 ENCODE dbSUPER 8 +37.3 37253 0.7 NFYB CEBPB SPAG17 VDAC2P3 GC01M118154 GC01M118065
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPAG17 on UCSC Golden Path with GeneCards custom track

Promoters for SPAG17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000012164 24 800 ATF1 CREB3L1 SIN3A ZNF2 TCF12 ZNF766 GATA2 KLF13 ZNF263 SP3

Genomic Location for SPAG17 Gene

Chromosome:
1
Start:
117,953,665 bp from pter
End:
118,185,225 bp from pter
Size:
231,561 bases
Orientation:
Minus strand

Genomic View for SPAG17 Gene

Genes around SPAG17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAG17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG17 Gene

Proteins for SPAG17 Gene

  • Protein details for SPAG17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6Q759-SPG17_HUMAN
    Recommended name:
    Sperm-associated antigen 17
    Protein Accession:
    Q6Q759
    Secondary Accessions:
    • Q8NAZ1
    • Q9NT21

    Protein attributes for SPAG17 Gene

    Size:
    2223 amino acids
    Molecular mass:
    251742 Da
    Quaternary structure:
    • Interacts (via the C-terminus) with SPAG6; the interaction probably occurs on polymerized microtubules.

neXtProt entry for SPAG17 Gene

Post-translational modifications for SPAG17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPAG17 Gene

Domains & Families for SPAG17 Gene

Protein Domains for SPAG17 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPAG17: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SPAG17 Gene

Function for SPAG17 Gene

Molecular function for SPAG17 Gene

UniProtKB/Swiss-Prot Function:
Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts.
genes like me logo Genes that share phenotypes with SPAG17: view

Animal Models for SPAG17 Gene

MGI Knock Outs for SPAG17:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPAG17 Gene

Localization for SPAG17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG17 Gene

Cytoplasm. Cytoplasm, cytoskeleton, flagellum axoneme. Note=Detected in the cytoplasm of round spermatids and in condensing spermatids. Localized to the central pair of the sperm flagellar axoneme. Colocalizes with SPAG6 on microtubules (By similarity). {ECO:0000250 UniProtKB:Q5S003}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPAG17 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for SPAG17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with SPAG17: view

Pathways & Interactions for SPAG17 Gene

SuperPathways for SPAG17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPAG17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003351 epithelial cilium movement IBA --
GO:0030030 cell projection organization IEA --
GO:1904158 axonemal central apparatus assembly IBA,IEA --
genes like me logo Genes that share ontologies with SPAG17: view

No data available for Pathways by source and SIGNOR curated interactions for SPAG17 Gene

Drugs & Compounds for SPAG17 Gene

No Compound Related Data Available

Transcripts for SPAG17 Gene

Unigene Clusters for SPAG17 Gene

Sperm associated antigen 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG17 Gene

No ASD Table

Relevant External Links for SPAG17 Gene

GeneLoc Exon Structure for
SPAG17
ECgene alternative splicing isoforms for
SPAG17

Expression for SPAG17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPAG17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPAG17 Gene

This gene is overexpressed in Testis (x11.9), Esophagus - Mucosa (x4.9), and Pituitary (x4.4).

Protein differential expression in normal tissues from HIPED for SPAG17 Gene

This gene is overexpressed in Cerebrospinal fluid (42.1), Heart (13.0), and Monocytes (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPAG17 Gene



Protein tissue co-expression partners for SPAG17 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPAG17 Gene:

SPAG17

SOURCE GeneReport for Unigene cluster for SPAG17 Gene:

Hs.528821

mRNA Expression by UniProt/SwissProt for SPAG17 Gene:

Q6Q759-SPG17_HUMAN
Tissue specificity: Highly expressed in testis. Expressed in organs that contain cilia-bearing cells including brain, oviduct, lung, and uterus.

Evidence on tissue expression from TISSUES for SPAG17 Gene

  • Lung(4.3)
genes like me logo Genes that share expression patterns with SPAG17: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAG17 Gene

Orthologs for SPAG17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPAG17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG17 34 35
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia SPAG17 34 35
  • 85.79 (n)
cow
(Bos Taurus)
Mammalia SPAG17 34 35
  • 84.75 (n)
rat
(Rattus norvegicus)
Mammalia Spag17 34
  • 79.1 (n)
mouse
(Mus musculus)
Mammalia Spag17 34 16 35
  • 78.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SPAG17 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPAG17 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPAG17 35 34
  • 60.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPAG17 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100170502 34
  • 54.56 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-208b23.5 34
  • 51.5 (n)
SPAG17 35
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for SPAG17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 SPAG17 Gene

ENSEMBL:
Gene Tree for SPAG17 (if available)
TreeFam:
Gene Tree for SPAG17 (if available)

Paralogs for SPAG17 Gene

No data available for Paralogs for SPAG17 Gene

Variants for SPAG17 Gene

Sequence variations from dbSNP and Humsavar for SPAG17 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_042867 A colorectal cancer sample
rs587783068 Uncertain significance 118,008,186(-) TCCTC(G/T)GACTG nc-transcript-variant, reference, missense
rs1000006082 -- 118,158,604(+) TGATA(A/G)GGAGC intron-variant
rs1000016918 -- 118,070,518(+) GTGGA(A/C)CCAAC intron-variant
rs1000036945 -- 118,030,303(+) TTTAT(C/T)TTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPAG17 Gene

Variant ID Type Subtype PubMed ID
esv2608205 CNV deletion 19546169
esv2716696 CNV deletion 23290073
esv2716707 CNV deletion 23290073
esv34191 CNV loss 18971310
esv5742 CNV gain 19470904
nsv528470 CNV loss 19592680
nsv547611 CNV loss 21841781
nsv547612 CNV loss 21841781

Variation tolerance for SPAG17 Gene

Residual Variation Intolerance Score: 94.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.53; 97.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG17 Gene

Human Gene Mutation Database (HGMD)
SPAG17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAG17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG17 Gene

Disorders for SPAG17 Gene

Relevant External Links for SPAG17

Genetic Association Database (GAD)
SPAG17
Human Genome Epidemiology (HuGE) Navigator
SPAG17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG17

No disorders were found for SPAG17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPAG17 Gene

Publications for SPAG17 Gene

  1. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  2. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim J.J. … Lee J.K. (J. Hum. Genet. 2010) 3 46 64
  3. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PMID: 20846217) Lee J.J. … Hirschhorn J. (Ann. Hum. Genet. 2010) 3 46 64
  4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U. … Jarvelin M.R. (PLoS Genet. 2009) 3 46 64
  5. Genome-wide association analysis identifies 20 loci that influence adult height. (PMID: 18391952) Weedon M.N. … Frayling T.M. (Nat. Genet. 2008) 3 46 64

Products for SPAG17 Gene

Sources for SPAG17 Gene

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