Free for academic non-profit institutions. Other users need a Commercial license

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. Diseases associated with SPAG17 include Primary Ciliary Dyskinesia.

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.

Additional gene information for SPAG17 Gene

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

GeneHancer (GH) Regulatory Elements for SPAG17 Gene

Promoters and enhancers for SPAG17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I118184 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 557.8 +0.0 42 1.2 ATF1 SIN3A ZNF2 TCF12 ZNF766 ATF7 SP3 NCOA1 ZNF610 SMARCA4 SPAG17 LOC105378930 GC01M118154
GH01I118115 Enhancer 0.9 ENCODE dbSUPER 9.4 +68.5 68465 1.8 SOX13 FOXA2 SAP130 SIN3A THRB RARA GATA3 NR2F6 FOS MIXL1 SPAG17 GC01M118065 GC01M118154
GH01I118135 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +49.0 49042 2.1 ZSCAN4 JUNB BATF ATF2 IRF4 ZNF335 ZFHX2 ZNF776 IKZF1 SCRT2 SPAG17 GC01M118154 GC01M118065
GH01I118118 Enhancer 1 ENCODE dbSUPER 5.4 +66.6 66552 0.2 ELF3 SOX13 TFAP4 MAX ZNF644 THRB RAD21 YY1 TEAD3 GATA3 SPAG17 GC01M118065 GC01M118154
GH01I118081 Enhancer 0.6 ENCODE 8.2 +103.6 103642 0.2 SMARCE1 ZNF687 ZSCAN26 SIN3A DPF2 MNT FOXA1 ZNF217 CTBP1 JUND ENSG00000271427 SPAG17 GC01M118065 GC01M118154
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPAG17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPAG17 gene promoter:

Genomic Locations for SPAG17 Gene

Genomic Locations for SPAG17 Gene
chr1:117,953,665-118,185,225
(GRCh38/hg38)
Size:
231,561 bases
Orientation:
Minus strand
chr1:118,496,288-118,727,848
(GRCh37/hg19)

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

Gene Families for SPAG17 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for SPAG17 Gene

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

Animal Models for SPAG17 Gene

MGI Knock Outs for SPAG17:

Animal Model Products

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPAG17 Gene

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:

Clone 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

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 33 34
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia SPAG17 33 34
  • 85.79 (n)
cow
(Bos Taurus)
Mammalia SPAG17 33 34
  • 84.75 (n)
rat
(Rattus norvegicus)
Mammalia Spag17 33
  • 79.1 (n)
mouse
(Mus musculus)
Mammalia Spag17 33 16 34
  • 78.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SPAG17 34
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPAG17 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPAG17 33 34
  • 60.1 (n)
lizard
(Anolis carolinensis)
Reptilia SPAG17 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100170502 33
  • 54.56 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-208b23.5 33
  • 51.5 (n)
SPAG17 34
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs183758503 likely-pathogenic, Cranioectodermal dysplasia 2 118,093,260(-) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
VAR_042867 A colorectal cancer sample p.Asp1707Glu
rs587783068 uncertain-significance, not provided 118,008,186(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000006082 -- 118,158,604(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000016918 -- 118,070,518(-) C/A genic_upstream_transcript_variant, 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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for SPAG17 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPAG17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPAG17: view

No data available for 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 SF (BMC medical genetics 2010) 3 44 58
  2. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PMID: 20846217) Lee JJ … Hirschhorn J (Annals of human genetics 2010) 3 44 58
  3. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 44 58
  4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U … Jarvelin MR (PLoS genetics 2009) 3 44 58
  5. Strong association of chromosome 1p12 loci with thyroid cancer susceptibility. (PMID: 18559567) Baida A … Velázquez A (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 44 58

Products for SPAG17 Gene

Sources for SPAG17 Gene

Content
Loading form....