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 b... See more...

Aliases for SPAG6 Gene

Aliases for SPAG6 Gene

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

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 Tympanic Membrane Disease and Infertility. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SPAG6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPAG6 Gene

Genomics for SPAG6 Gene

GeneHancer (GH) Regulatory Elements for SPAG6 Gene

Promoters and enhancers for SPAG6 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
GH10J022345 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.4 370 0.8 GABPA EZH2 RBM14 CREB1 IKZF1 SIN3A JUND RNF2 ZBTB33 ZBTB21 SPAG6 MLLT10 BMI1 COMMD3 HSALNG0076646
GH10J022349 Promoter 0.7 Ensembl 500.7 -0.3 -315 0.2 EZH2 RNF2 ZNF687 ZNF547 SUZ12 LARP7 PRDM1 SPAG6 ENSG00000272366
GH10J022343 Enhancer 0.6 ENCODE 500.7 -1.6 -1559 0.1 EP300 MEF2C MEF2B TBX21 SPI1 NFIC EZH2 MEF2A IKZF1 MTA2 SPAG6 ENSG00000272366
GH10J022344 Enhancer 0.5 ENCODE 500.7 -1.0 -969 0.2 IKZF1 NFIC EZH2 MEF2A SUZ12 IKZF2 RUNX3 SPAG6 ENSG00000272366
GH10J022346 Enhancer 0.4 ENCODE 500.7 -0.6 -619 0.1 EZH2 RNF2 ZNF547 SUZ12 PRDM1 SPAG6 ENSG00000272366
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPAG6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPAG6

Top Transcription factor binding sites by QIAGEN in the SPAG6 gene promoter:
  • aMEF-2
  • E4BP4
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SPAG6 Gene

Genomic Locations for SPAG6 Gene
chr10:22,345,416-22,454,224
(GRCh38/hg38)
Size:
108,809 bases
Orientation:
Plus strand
chr10:22,634,399-22,743,153
(GRCh37/hg19)
Size:
108,755 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

No data available for DME Specific Peptides for SPAG6 Gene

Domains & Families for SPAG6 Gene

Gene Families for SPAG6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPAG6 Gene

Blocks:
  • Armadillo repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPAG6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60368, highly similar to Sperm-associated antigen 6 (B4DXZ4_HUMAN)
  • Sperm associated antigen 6 (E0ZS56_HUMAN)
  • Sperm flagellar protein (SPAG6_HUMAN)
genes like me logo Genes that share domains with SPAG6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPAG6 Gene

Function for SPAG6 Gene

Molecular function for SPAG6 Gene

UniProtKB/Swiss-Prot Function:
Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility.
GENATLAS Biochemistry:
sperm associated antigen 6,highly expressed in testis located to the tails of permeabilized human sperm but mediating protein-protein interacting

Phenotypes From GWAS Catalog for SPAG6 Gene

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

Animal Models for SPAG6 Gene

MGI Knock Outs for SPAG6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPAG6

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 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
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 SPAG6 gene
Compartment Confidence
cytoskeleton 4
mitochondrion 2
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for SPAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPAG6 Gene

Pathways & Interactions for SPAG6 Gene

PathCards logo

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

Drugs & Compounds for SPAG6 Gene

No Compound Related Data Available

Transcripts for SPAG6 Gene

mRNA/cDNA for SPAG6 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPAG6

Clone 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

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 and MOPED for SPAG6 Gene



Protein tissue co-expression partners for SPAG6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SPAG6 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with SPAG6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAG6 Gene

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 31 30
  • 99.87 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPAG6 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPAG6 31 30
  • 92.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia BC061194 31
  • 92 (a)
OneToOne
Spag6 30
  • 87.57 (n)
Spag6l 17
cow
(Bos Taurus)
Mammalia SPAG6 31 30
  • 91.94 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPAG6 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spag6 30
  • 87.42 (n)
chicken
(Gallus gallus)
Aves SPAG6 31 30
  • 82.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPAG6 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spag6 30
  • 77.65 (n)
Str.9758 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16464 30
zebrafish
(Danio rerio)
Actinopterygii spag6 31 30
  • 72.46 (n)
OneToOne
Dr.17566 30
fruit fly
(Drosophila melanogaster)
Insecta alphaKap4 31
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ima-1 31
  • 13 (a)
OneToMany
F53B2.5 31
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8260 31
  • 82 (a)
OneToOne
Cin.14201 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14201 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for SPAG6: view image

Paralogs for SPAG6 Gene

No data available for Paralogs for SPAG6 Gene

Variants for SPAG6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPAG6 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
713977 Likely Benign: not provided 22,391,758(+) A/G SYNONYMOUS_VARIANT
718025 Benign: not provided 22,386,815(+) G/A SYNONYMOUS_VARIANT
VAR_035659 A breast cancer sample p.Val106Leu
rs7074847 - p.Gln216Arg

Additional dbSNP identifiers (rs#s) for SPAG6 Gene

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)

Additional Variant Information for SPAG6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPAG6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tympanic membrane disease
  • disorder of tympanic membrane
infertility
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
otitis media
  • otitis media, susceptibility to
cerebral degeneration
  • brain degeneration
- elite association - COSMIC cancer census association via MalaCards
Search SPAG6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPAG6

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 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 LI … Strauss JF (Genomics 1999) 2 3 4 23 54
  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 (Journal of molecular evolution 2013) 2 3 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54

Products for SPAG6 Gene

Sources for SPAG6 Gene