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Aliases for EQTN Gene

Aliases for EQTN Gene

  • Equatorin 2 3 3 5
  • C9orf11 2 3 4
  • Acrosome Formation-Associated Factor 3 4
  • Acrosome Formation Associated Factor 2 3
  • Sperm Acrosome Associated 8 2 3
  • AFAF 3 4
  • Equatorin, Sperm Acrosome Associated 3
  • 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.

Additional gene information for EQTN Gene

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

Genomics for EQTN Gene

GeneHancer (GH) Regulatory Elements for EQTN Gene

Promoters and enhancers for EQTN 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
GH09J027297 Promoter 0.5 EPDnew 650.7 0.0 -17 0.1 EQTN GC09M027375
GH09J027527 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 8.8 -231.6 -231616 3.4 PKNOX1 RB1 SIN3A ZNF48 RAD21 ZNF335 GLIS2 ZNF207 ZNF143 RCOR1 MOB3B ENSG00000285103 C9orf72 EQTN IFNK
GH09J027365 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -72.1 -72134 8.5 HDGF PKNOX1 ZSCAN4 STAT5A FEZF1 BATF IRF4 RCOR1 ATF7 FOS MOB3B IFT74 ENSG00000237734 EQTN IFNK C9orf72 PLAA GC09M027375
GH09J027458 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.5 -165.3 -165268 7.3 HDAC1 PKNOX1 FOXA2 TAF9B TCF12 SCRT2 ATF7 IKZF2 RUNX3 ZNF592 C9orf72 MOB3B ENSG00000237734 IFNK EQTN LOC105376001
GH09J027332 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -36.3 -36282 1.3 CTCF FOXA2 ZNF384 ZNF2 RAD21 GATA3 ZNF143 SMC3 DEK ZNF362 MOB3B IFNK EQTN IFT74 C9orf72 GC09M027375
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EQTN on UCSC Golden Path with GeneCards custom track

Genomic Locations for EQTN Gene

Genomic Locations for EQTN Gene
chr9:27,284,654-27,297,139
(GRCh38/hg38)
Size:
12,486 bases
Orientation:
Minus strand
chr9:27,284,652-27,297,137
(GRCh37/hg19)
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 isoforms=3143 and isoforms=2, 376
  • 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

Gene Families for EQTN Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

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 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.

Phenotypes From GWAS Catalog for EQTN Gene

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

Animal Models for EQTN Gene

MGI Knock Outs for EQTN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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
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 EQTN gene
Compartment Confidence
plasma membrane 3

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 IBA,IEA --
GO:0002081 outer acrosomal membrane ISS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EQTN: view

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

Pathways & Interactions 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 involved in single fertilization 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

Drugs & Compounds for EQTN Gene

No Compound Related Data Available

Transcripts for EQTN Gene

mRNA/cDNA for EQTN Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EQTN Gene

Equatorin, sperm acrosome associated:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EQTN 34 33
  • 75.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eqtn 33
  • 73.42 (n)
dog
(Canis familiaris)
Mammalia EQTN 34 33
  • 72.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Eqtn 16 34 33
  • 70.96 (n)
oppossum
(Monodelphis domestica)
Mammalia EQTN 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EQTN: view image

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 Variation AA Info Type
rs1000009159 -- 27,297,884(-) T/C upstream_transcript_variant
rs1000151836 -- 27,290,900(-) G/A/C intron_variant
rs1000236109 -- 27,287,160(-) C/G intron_variant
rs1000246030 -- 27,287,390(-) A/T intron_variant
rs1000573482 -- 27,288,561(-) C/T 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)

Additional Variant Information for EQTN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EQTN Gene

Additional Disease Information for 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 (Biochimica et biophysica acta 2000) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58
  3. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. (PMID: 20801718) Laaksovirta H … Traynor BJ (The Lancet. Neurology 2010) 3 58
  4. Afaf, a novel vesicle membrane protein, is related to acrosome formation in murine testis. (PMID: 16831425) Li YC … Liu YX (FEBS letters 2006) 3 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 58

Products for EQTN Gene

Sources for EQTN Gene

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