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Aliases for EQTN Gene

Aliases for EQTN Gene

  • Equatorin 2 3 3 5
  • Acrosome Formation Associated Factor 2 3
  • Equatorin, Sperm Acrosome Associated 2 3
  • Acrosome Formation-Associated Factor 3 4
  • Sperm Acrosome Associated 8 2 3
  • C9orf11 3 4
  • AFAF 3 4
  • Chromosome 9 Open Reading Frame 11 2
  • Acr Formation Associated Factor 2
  • SPACA8 3

External Ids for EQTN Gene

Previous HGNC Symbols for EQTN Gene

  • C9orf11

Summaries for EQTN Gene

GeneCards Summary for EQTN Gene

EQTN (Equatorin) is a Protein Coding gene.

UniProtKB/Swiss-Prot for EQTN Gene

  • Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EQTN Gene

Genomics for EQTN Gene

Regulatory Elements for EQTN Gene

Enhancers for EQTN 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
GH09F027276 0.5 Ensembl 11.5 +20.7 20739 0.4 CTCF ZNF654 TRIM22 RAD21 ZNF664 MAFF SMC3 ZNF143 EQTN LINC00032 RPL36AP34
GH09F027261 0.8 ENCODE 10.7 +35.5 35542 0.2 CEBPA CEBPB EQTN LINC00032 RPL36AP34
GH09F027262 0.2 ENCODE 10.7 +35.3 35302 0.2 NR3C1 EQTN CAAP1 LINC00032 RPL36AP34
GH09F027335 1.1 FANTOM5 Ensembl ENCODE 10.6 -42.0 -42040 6.8 IKZF1 RAD21 SPI1 IFT74 MOB3B IFNK EQTN ENSG00000237734 C9orf72 GC09M027375
GH09F027332 1.2 FANTOM5 Ensembl ENCODE 10.5 -36.3 -36283 1.3 CTCF TEAD4 ZNF384 ZNF2 RAD21 ZNF207 SMC3 DEK ZNF263 ZNF654 MOB3B IFNK EQTN IFT74 C9orf72 GC09M027375
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EQTN on UCSC Golden Path with GeneCards custom track

Genomic Location for EQTN Gene

Chromosome:
9
Start:
27,284,654 bp from pter
End:
27,297,139 bp from pter
Size:
12,486 bases
Orientation:
Minus strand

Genomic View for EQTN Gene

Genes around EQTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EQTN Gene

Proteins for EQTN Gene

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

    Protein Symbol:
    Q9NQ60-EQTN_HUMAN
    Recommended name:
    Equatorin
    Protein Accession:
    Q9NQ60
    Secondary Accessions:
    • B2RPB3
    • B7ZMK1
    • Q5TCU1
    • Q96L22

    Protein attributes for EQTN Gene

    Size:
    294 amino acids
    Molecular mass:
    32840 Da
    Quaternary structure:
    • Interacts with SNAP25.

    Alternative splice isoforms for EQTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EQTN Gene

Post-translational modifications for EQTN Gene

  • Highly N- and O-glycosylated; contains sialic acid.
  • Glycosylation at Asn 76 and Asn 143
  • Modification sites at PhosphoSitePlus

Other Protein References for EQTN Gene

No data available for DME Specific Peptides for EQTN Gene

Domains & Families for EQTN Gene

Protein Domains for EQTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EQTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for EQTN Gene

Molecular function for EQTN Gene

UniProtKB/Swiss-Prot Function:
Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis.
genes like me logo Genes that share phenotypes with EQTN: view

Animal Models for EQTN Gene

MGI Knock Outs for EQTN:

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 EQTN Gene

Localization for EQTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for EQTN Gene

Cytoplasmic vesicle, secretory vesicle, acrosome membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, acrosome outer membrane; Single-pass type I membrane protein. Note=In the anterior acrosome region, enriched on the inner acrosomal membrane but minimal on the outer acrosomal membrane; in contrast in the posterior acrosome region enriched on both the inner and outer acrosomal membranes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EQTN Gene COMPARTMENTS Subcellular localization image for EQTN gene
Compartment Confidence
plasma membrane 3
endosome 2
nucleus 2

Gene Ontology (GO) - Cellular Components for EQTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002079 inner acrosomal membrane ISS --
GO:0002080 acrosomal membrane IEA --
GO:0002081 outer acrosomal membrane ISS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with EQTN: view

Pathways & Interactions for EQTN Gene

SuperPathways for EQTN Gene

No Data Available

Interacting Proteins for EQTN Gene

Gene Ontology (GO) - Biological Process for EQTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007342 fusion of sperm to egg plasma membrane IEA --
GO:0060478 acrosomal vesicle exocytosis IEA --
genes like me logo Genes that share ontologies with EQTN: view

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

Transcripts for EQTN Gene

mRNA/cDNA for EQTN Gene

Unigene Clusters for EQTN Gene

Equatorin, sperm acrosome associated:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for EQTN Gene

GeneLoc Exon Structure for
EQTN
ECgene alternative splicing isoforms for
EQTN

Expression for EQTN Gene

mRNA expression in normal human tissues for EQTN Gene

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

This gene is overexpressed in Testis (x41.3).

Protein differential expression in normal tissues from HIPED for EQTN Gene

This gene is overexpressed in Testis (69.0).

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



Protein tissue co-expression partners for EQTN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EQTN Gene:

EQTN

SOURCE GeneReport for Unigene cluster for EQTN Gene:

Hs.163070

mRNA Expression by UniProt/SwissProt for EQTN Gene:

Q9NQ60-EQTN_HUMAN
Tissue specificity: Isoform 1 is highly expressed in testis. Isoform 2 is expressed at low levels in skin and blood.
genes like me logo Genes that share expression patterns with EQTN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for EQTN Gene

Orthologs for EQTN Gene

This gene was present in the common ancestor of mammals.

Orthologs for EQTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EQTN 34 35
  • 99.21 (n)
cow
(Bos Taurus)
Mammalia EQTN 34 35
  • 75.12 (n)
rat
(Rattus norvegicus)
Mammalia Eqtn 34
  • 73.42 (n)
dog
(Canis familiaris)
Mammalia EQTN 34 35
  • 72.66 (n)
mouse
(Mus musculus)
Mammalia Eqtn 34 16 35
  • 70.96 (n)
oppossum
(Monodelphis domestica)
Mammalia EQTN 35
  • 24 (a)
OneToOne
Species where no ortholog for EQTN 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EQTN Gene

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

Paralogs for EQTN Gene

No data available for Paralogs for EQTN Gene

Variants for EQTN Gene

Sequence variations from dbSNP and Humsavar for EQTN Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10114045 -- 27,289,613(+) ccaaa(G/T)tgctg intron-variant
rs10114724 -- 27,295,938(+) GCAGA(A/G)ATTAT intron-variant
rs10116263 -- 27,297,441(+) GGGAC(A/G)AATGC upstream-variant-2KB
rs10116338 -- 27,297,658(+) ACCTC(A/G)GTGCC upstream-variant-2KB
rs10118168 -- 27,287,101(+) TAAAC(A/T)TTTAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7489n100 CNV gain 25217958
esv2761268 CNV gain+loss 21179565
esv3620126 CNV gain 21293372
nsv1015259 CNV gain 25217958
nsv1018258 CNV gain 25217958
nsv1018864 CNV gain 25217958
nsv1019688 CNV loss 25217958
nsv466336 CNV gain 19166990
nsv466337 CNV loss 19166990
nsv471294 CNV gain 18288195
nsv613947 CNV gain 21841781
nsv613949 CNV loss 21841781

Variation tolerance for EQTN Gene

Residual Variation Intolerance Score: 85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.66; 56.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EQTN Gene

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

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

Disorders for EQTN Gene

Relevant External Links for EQTN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EQTN

No disorders were found for EQTN Gene.

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

Publications for EQTN Gene

  1. Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer. (PMID: 11118625) Ruiz A. … Estivill X. (Biochim. Biophys. Acta 2000) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  3. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. (PMID: 20801718) Laaksovirta H. … Traynor B.J. (Lancet Neurol 2010) 3 64
  4. Afaf, a novel vesicle membrane protein, is related to acrosome formation in murine testis. (PMID: 16831425) Li Y.C. … Liu Y.X. (FEBS Lett. 2006) 3 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 64

Products for EQTN Gene

Sources for EQTN Gene

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