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Aliases for SPAG6 Gene

Aliases for SPAG6 Gene

  • Sperm Associated Antigen 6 2 3 5
  • Axoneme Central Apparatus Protein 2 3
  • Sperm Flagellar Protein 3 4
  • Protein PF16 Homolog 3 4
  • Repro-SA-1 3 4
  • Pf16 3 4
  • Testicular Tissue Protein Li 176 3
  • Sperm-Associated Antigen 6 3
  • CT141 3

External Ids for SPAG6 Gene

Previous GeneCards Identifiers for SPAG6 Gene

  • GC10P022369
  • GC10P022784
  • GC10P022638
  • GC10P022674
  • GC10P022634

Summaries for SPAG6 Gene

Entrez Gene Summary for SPAG6 Gene

  • The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for SPAG6 Gene

SPAG6 (Sperm Associated Antigen 6) is a Protein Coding gene. Diseases associated with SPAG6 include Hydrocephalus. GO annotations related to this gene include binding. An important paralog of this gene is KPNA7.

UniProtKB/Swiss-Prot for SPAG6 Gene

  • Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility.

Gene Wiki entry for SPAG6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG6 Gene

Genomics for SPAG6 Gene

Regulatory Elements for SPAG6 Gene

Enhancers for SPAG6 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
GH10F022475 0.7 FANTOM5 Ensembl 14.9 +131.6 131599 2.4 INSM2 ZBTB40 ZNF2 GLIS2 EGR1 ZNF207 ETV6 EGR2 ZNF263 ZEB2 SPAG6 ARMC3 LOC105376450 TRP-GGG1-1
GH10F021431 0.7 ENCODE 4.7 -912.4 -912424 3.5 PKNOX1 TAL1 CEBPG BMI1 ZNF316 CTBP1 ZNF366 NCOR1 PRDM10 FOS RNU6-15P SPAG6 DNAJC1 ENSG00000278650 LOC105376445
GH10F023331 0.9 Ensembl ENCODE 4.4 +986.7 986717 1.1 JUN CEBPB EP300 JUND ZNF366 IKZF1 STAT3 FOS PRDM1 SPAG6 LOC105376453 GC10P023294
GH10F022334 1.3 FANTOM5 ENCODE 3.2 -10.9 -10899 0.5 HDAC1 CREB3L1 MAX ZNF644 GATA2 FOXK2 EZH2 ZNF202 ZNF263 L3MBTL2 SPAG6 BMI1 COMMD3 ENSG00000271981 ENSG00000272366
GH10F022336 1 FANTOM5 ENCODE 2.3 -8.6 -8600 0.7 CTCF PKNOX1 SUZ12 ZIC2 HIC1 ZFHX2 ZBTB48 PATZ1 SCRT2 PRDM10 BMI1 COMMD3 SPAG6 DNAJC1 ENSG00000272366 ENSG00000271981
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPAG6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPAG6 Gene

Chromosome:
10
Start:
22,345,416 bp from pter
End:
22,454,224 bp from pter
Size:
108,809 bases
Orientation:
Plus strand

Genomic View for SPAG6 Gene

Genes around SPAG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG6 Gene

Proteins for SPAG6 Gene

  • Protein details for SPAG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75602-SPAG6_HUMAN
    Recommended name:
    Sperm-associated antigen 6
    Protein Accession:
    O75602
    Secondary Accessions:
    • A8K1I8
    • B4DXZ4
    • Q5VUX5
    • Q5VUX6
    • Q5VUX7
    • Q6FI74
    • Q8NHQ6

    Protein attributes for SPAG6 Gene

    Size:
    509 amino acids
    Molecular mass:
    55476 Da
    Quaternary structure:
    • Interacts with SPAG16 and SPAG17.

    Alternative splice isoforms for SPAG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPAG6 Gene

Post-translational modifications for SPAG6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SPAG6
  • Santa Cruz Biotechnology (SCBT) Antibodies for SPAG6

No data available for DME Specific Peptides for SPAG6 Gene

Domains & Families for SPAG6 Gene

Gene Families for SPAG6 Gene

Protein Domains for SPAG6 Gene

Graphical View of Domain Structure for InterPro Entry

O75602

UniProtKB/Swiss-Prot:

SPAG6_HUMAN :
  • Contains 8 ARM repeats.
Similarity:
  • Contains 8 ARM repeats.
genes like me logo Genes that share domains with SPAG6: view

Function for SPAG6 Gene

Molecular function for SPAG6 Gene

GENATLAS Biochemistry:
sperm associated antigen 6,highly expressed in testis located to the tails of permeabilized human sperm but mediating protein-protein interacting
UniProtKB/Swiss-Prot Function:
Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility.
genes like me logo Genes that share phenotypes with SPAG6: view

Animal Models for SPAG6 Gene

MGI Knock Outs for SPAG6:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPAG6 Gene

Localization for SPAG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG6 Gene

Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Note=Associated with microtubules. Detected on the sperm flagellum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPAG6 Gene COMPARTMENTS Subcellular localization image for SPAG6 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
mitochondrion 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with SPAG6: view

Pathways & Interactions for SPAG6 Gene

SuperPathways for SPAG6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007286 spermatid development TAS 10493827
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with SPAG6: view

No data available for Pathways by source and SIGNOR curated interactions for SPAG6 Gene

Transcripts for SPAG6 Gene

Unigene Clusters for SPAG6 Gene

Sperm associated antigen 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: -
SP2: - -
SP3:

Relevant External Links for SPAG6 Gene

GeneLoc Exon Structure for
SPAG6
ECgene alternative splicing isoforms for
SPAG6

Expression for SPAG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPAG6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPAG6 Gene

This gene is overexpressed in Testis (x23.0), Pituitary (x6.1), and Brain - Hypothalamus (x4.3).

Protein differential expression in normal tissues from HIPED for SPAG6 Gene

This gene is overexpressed in Testis (26.0), Neutrophil (14.4), Ovary (11.5), Heart (10.7), and Plasma (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPAG6 Gene



Protein tissue co-expression partners for SPAG6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPAG6 Gene:

SPAG6

SOURCE GeneReport for Unigene cluster for SPAG6 Gene:

Hs.655170

mRNA Expression by UniProt/SwissProt for SPAG6 Gene:

O75602-SPAG6_HUMAN
Tissue specificity: Highly expressed in testis.
genes like me logo Genes that share expression patterns with SPAG6: view

Primer Products

Orthologs for SPAG6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPAG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG6 34 35
  • 99.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SPAG6 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPAG6 34 35
  • 92.93 (n)
mouse
(Mus musculus)
Mammalia BC061194 35
  • 92 (a)
OneToOne
Spag6 34
  • 87.57 (n)
Spag6l 16
cow
(Bos Taurus)
Mammalia SPAG6 34 35
  • 91.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPAG6 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spag6 34
  • 87.42 (n)
chicken
(Gallus gallus)
Aves SPAG6 34 35
  • 82.25 (n)
lizard
(Anolis carolinensis)
Reptilia SPAG6 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spag6 34
  • 77.65 (n)
Str.9758 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16464 34
zebrafish
(Danio rerio)
Actinopterygii spag6 34 35
  • 72.46 (n)
Dr.17566 34
fruit fly
(Drosophila melanogaster)
Insecta alphaKap4 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ima-1 35
  • 13 (a)
OneToMany
F53B2.5 35
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8260 35
  • 82 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14201 34
Species where no ortholog for SPAG6 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)
  • 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)
  • 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)

Evolution for SPAG6 Gene

ENSEMBL:
Gene Tree for SPAG6 (if available)
TreeFam:
Gene Tree for SPAG6 (if available)

Paralogs for SPAG6 Gene

Paralogs for SPAG6 Gene

genes like me logo Genes that share paralogs with SPAG6: view

Variants for SPAG6 Gene

Sequence variations from dbSNP and Humsavar for SPAG6 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_035659 A breast cancer sample
rs10437407 -- 22,361,611(+) gaatc(A/G)ctgga intron-variant
rs10437408 -- 22,362,067(+) tataa(A/G)tatat intron-variant
rs10508643 -- 22,390,248(+) GTCAC(A/G)GTAAG intron-variant
rs1057263 -- 22,417,457(+) CCTAA(C/T)GTCAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SPAG6 Gene

Variant ID Type Subtype PubMed ID
dgv136n67 CNV gain 20364138
dgv137n67 CNV gain 20364138
esv3426173 CNV insertion 20981092
nsv6032 CNV insertion 18451855
nsv951254 CNV duplication 24416366

Variation tolerance for SPAG6 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.44; 77.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAG6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG6 Gene

Disorders for SPAG6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPAG6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search SPAG6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPAG6

Genetic Association Database (GAD)
SPAG6
Human Genome Epidemiology (HuGE) Navigator
SPAG6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG6
genes like me logo Genes that share disorders with SPAG6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPAG6 Gene

Publications for SPAG6 Gene

  1. cDNA cloning and characterization of a human sperm antigen (SPAG6) with homology to the product of the Chlamydomonas PF16 locus. (PMID: 10493827) Neilson L.I. … Strauss J.F. III (Genomics 1999) 2 3 4 22 64
  2. Lineage-specific duplications of Muroidea Faim and Spag6 genes and atypical accelerated evolution of the parental Spag6 gene. (PMID: 24071998) Qiu H. … Wojnowski L. (J. Mol. Evol. 2013) 2 3 64
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SPAG6 Gene

Sources for SPAG6 Gene

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