Aliases for EQTN Gene

Aliases for EQTN Gene

  • Equatorin 2 2 3 4 5
  • C9orf11 2 3 4
  • AFAF 2 3 4
  • Acrosome Formation Associated Factor 2 3
  • Acrosome Formation-Associated Factor 3 4
  • Sperm Acrosome Associated 8 2 3
  • SPACA8 2 3
  • Equatorin, Sperm Acrosome Associated 3
  • Acr Formation Associated Factor 2
  • EQTN 5

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. Diseases associated with EQTN include Bronchiectasis 1.

UniProtKB/Swiss-Prot Summary for EQTN Gene

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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EQTN Gene

Genomics for EQTN Gene

GeneHancer (GH) Regulatory Elements Pubs

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 0.3 EPDnew 600.7 0.0 -6 0.1 EQTN lnc-MOB3B-1 piR-43099-593 IFNK
GH09J027527 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.8 -231.3 -231251 4.8 CTCF PRDM10 ZNF692 BACH1 LARP7 PRDM1 ZNF143 ZIC2 PKNOX1 POLR2A MOB3B ENSG00000285103 C9orf72 EQTN IFNK
GH09J027423 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 -133.0 -132951 13 GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 FOXA1 PKNOX1 POLR2A RXRB RF01045-147 ENSG00000237734 IFNK EQTN PLAA MOB3B MN298570
GH09J027365 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -72.5 -72459 9.2 PRDM10 ZNF692 JUND ZIC2 ZSCAN4 TCF12 IKZF2 TRIM22 ZNF600 PKNOX1 lnc-EQTN-2 MOB3B IFT74 ENSG00000237734 EQTN IFNK C9orf72 PLAA lnc-EQTN-3 lnc-EQTN-4
GH09J027346 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -55.5 -55450 10.4 SP1 FOXA1 IKZF2 TRIM22 PKNOX1 MNT EED DPF2 RELB RUNX3 RF00017-7483 IFT74 MOB3B ENSG00000237734 IFNK C9orf72 EQTN PLAA lnc-EQTN-2
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for EQTN Gene

Genomic Locations for EQTN Gene
chr9:27,284,654-27,297,150
(GRCh38/hg38)
Size:
12,497 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 Asn76 and Asn143
  • 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 intracellular proteins
  • Predicted membrane proteins

Protein Domains for EQTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EQTN Gene

GenScript: Design optimal peptide antigens:
  • Acrosome formation-associated factor (AFAF_HUMAN)
genes like me logo Genes that share domains with EQTN: view

No data available for Graphical View of Domain Structure 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.

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 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for EQTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002079 inner acrosomal membrane IBA,ISS --
GO:0002080 acrosomal membrane IBA 21873635
GO:0002081 outer acrosomal membrane IBA,ISS --
GO:0005886 plasma membrane IBA 21873635
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

PathCards logo

SuperPathways for EQTN Gene

No Data Available

Interacting Proteins for EQTN Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000369371 Q9NQ60-EQTN_HUMAN for EQTN Gene via STRING IID

Gene Ontology (GO) - Biological Process for EQTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA 21873635
GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization IBA 21873635
GO:0060478 acrosomal vesicle exocytosis IBA 21873635
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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 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

Expression for EQTN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 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 30 31
  • 99.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EQTN 30 31
  • 75.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eqtn 30
  • 73.42 (n)
Dog
(Canis familiaris)
Mammalia EQTN 30 31
  • 72.66 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Eqtn 30 17 31
  • 70.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EQTN 31
  • 24 (a)
OneToOne
Species where no ortholog for EQTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EQTN Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs12337286 - p.Asn101Asp
rs12341576 - p.Ile110Thr
rs41305329 - p.Thr274Lys

Additional dbSNP identifiers (rs#s) for EQTN Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for EQTN Gene - From: DISEASES

Disorder Aliases PubMed IDs
bronchiectasis 1
- elite association - COSMIC cancer census association via MalaCards
Search EQTN in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EQTN: view

No data available for 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
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. 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
  4. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. (PMID: 20801718) Laaksovirta H … Traynor BJ (The Lancet. Neurology 2010) 3
  5. Afaf, a novel vesicle membrane protein, is related to acrosome formation in murine testis. (PMID: 16831425) Li YC … Liu YX (FEBS letters 2006) 3

Products for EQTN Gene

Sources for EQTN Gene