Aliases for IZUMO3 Gene

Aliases for IZUMO3 Gene

  • IZUMO Family Member 3 2 3 5
  • Izumo Sperm-Egg Fusion Protein 3 3 4
  • BA20A20.1 2 3
  • C9orf134 3 4
  • Chromosome 9 Open Reading Frame 134 2
  • IZUMO3 5

External Ids for IZUMO3 Gene

Previous HGNC Symbols for IZUMO3 Gene

  • C9orf134

Previous GeneCards Identifiers for IZUMO3 Gene

  • GC09U901496

Summaries for IZUMO3 Gene

GeneCards Summary for IZUMO3 Gene

IZUMO3 (IZUMO Family Member 3) is a Protein Coding gene. Among its related pathways are Reproduction. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IZUMO3 Gene

Genomics for IZUMO3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IZUMO3 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
GH09J024545 Enhancer 0.2 Ensembl 250.7 +0.4 445 0.2 ENSG00000269957 IZUMO3 piR-32214-669 ELAVL2
GH09J024479 Enhancer 0.3 Ensembl ENCODE 11 +66.3 66312 1.3 IZUMO3 HSALNG0070461 piR-35674-522 ELAVL2
GH09J024509 Enhancer 0.3 ENCODE 11.2 +35.9 35925 1.1 NANOG IZUMO3 piR-55361-561 HSALNG0070461 ELAVL2
GH09J024572 Enhancer 0.2 ENCODE 12.3 -26.7 -26656 1.1 IZUMO3 piR-37026-600 piR-32214-669 ENSG00000269957
GH09J024487 Enhancer 0.2 Ensembl 11 +57.1 57145 3.6 HSALNG0070461 IZUMO3 piR-55361-561 ELAVL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IZUMO3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IZUMO3

Genomic Locations for IZUMO3 Gene

Latest Assembly
chr9:24,542,952-24,545,946
(GRCh38/hg38)
Size:
2,995 bases
Orientation:
Minus strand

Previous Assembly
chr9:24,542,950-24,545,895
(GRCh37/hg19 by Entrez Gene)
Size:
2,946 bases
Orientation:
Minus strand

chr9:24,542,950-24,545,944
(GRCh37/hg19 by Ensembl)
Size:
2,995 bases
Orientation:
Minus strand

Genomic View for IZUMO3 Gene

Genes around IZUMO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IZUMO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IZUMO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IZUMO3 Gene

Proteins for IZUMO3 Gene

  • Protein details for IZUMO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZ72-IZUM3_HUMAN
    Recommended name:
    Izumo sperm-egg fusion protein 3
    Protein Accession:
    Q5VZ72

    Protein attributes for IZUMO3 Gene

    Size:
    239 amino acids
    Molecular mass:
    27768 Da
    Quaternary structure:
    • Monomer and homodimer.
    Miscellaneous:
    • Izumo is the name of a Japanese shrine to marriage.

neXtProt entry for IZUMO3 Gene

Post-translational modifications for IZUMO3 Gene

  • Glycosylation at Asn96 and Asn126

Other Protein References for IZUMO3 Gene

No data available for DME Specific Peptides for IZUMO3 Gene

Domains & Families for IZUMO3 Gene

Gene Families for IZUMO3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for IZUMO3 Gene

InterPro:

Suggested Antigen Peptide Sequences for IZUMO3 Gene

GenScript: Design optimal peptide antigens:
  • Izumo sperm-egg fusion protein 3 (IZUM3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VZ72

UniProtKB/Swiss-Prot:

IZUM3_HUMAN :
  • Belongs to the Izumo family.
Family:
  • Belongs to the Izumo family.
genes like me logo Genes that share domains with IZUMO3: view

Function for IZUMO3 Gene

Phenotypes From GWAS Catalog for IZUMO3 Gene

Gene Ontology (GO) - Molecular Function for IZUMO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IEA,ISS --
genes like me logo Genes that share ontologies with IZUMO3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IZUMO3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IZUMO3 Gene

Localization for IZUMO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IZUMO3 Gene

Cell membrane. Single-pass type I membrane protein.

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 IZUMO3 gene
Compartment Confidence
plasma membrane 4
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for IZUMO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IZUMO3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IZUMO3 Gene

Pathways & Interactions for IZUMO3 Gene

PathCards logo

SuperPathways for IZUMO3 Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with IZUMO3: view

Pathways by source for IZUMO3 Gene

3 Reactome pathways for IZUMO3 Gene

Interacting Proteins for IZUMO3 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000474246 for IZUMO3 Gene via STRING

Symbol External ID(s) Details
CD9

Gene Ontology (GO) - Biological Process for IZUMO3 Gene

None

No data available for SIGNOR curated interactions for IZUMO3 Gene

Drugs & Compounds for IZUMO3 Gene

No Compound Related Data Available

Transcripts for IZUMO3 Gene

mRNA/cDNA for IZUMO3 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IZUMO3

Alternative Splicing Database (ASD) splice patterns (SP) for IZUMO3 Gene

No ASD Table

Relevant External Links for IZUMO3 Gene

GeneLoc Exon Structure for
IZUMO3

Expression for IZUMO3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IZUMO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IZUMO3 Gene

This gene is overexpressed in Testis (x53.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IZUMO3

SOURCE GeneReport for Unigene cluster for IZUMO3 Gene:

Hs.573530
genes like me logo Genes that share expression patterns with IZUMO3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IZUMO3 Gene

Orthologs for IZUMO3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for IZUMO3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IZUMO3 29 30
  • 99.14 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IZUMO3 29 30
  • 86.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IZUMO3 29 30
  • 84.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Izumo3 29 16 30
  • 79.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Izumo3 29
  • 78.55 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia IZUMO3 30
  • 50 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IZUMO3 30
  • 45 (a)
OneToOne
Species where no ortholog for IZUMO3 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)
  • 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 IZUMO3 Gene

ENSEMBL:
Gene Tree for IZUMO3 (if available)
TreeFam:
Gene Tree for IZUMO3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IZUMO3: view image
Alliance of Genome Resources:
Additional Orthologs for IZUMO3

Paralogs for IZUMO3 Gene

No data available for Paralogs for IZUMO3 Gene

Variants for IZUMO3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IZUMO3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IZUMO3 Gene

Variant ID Type Subtype PubMed ID
esv2752290 CNV gain 17911159
nsv1027072 CNV loss 25217958
nsv1032945 CNV loss 25217958
nsv831529 CNV loss 17160897

Variation tolerance for IZUMO3 Gene

Gene Damage Index Score: 2.97; 49.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IZUMO3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IZUMO3
Leiden Open Variation Database (LOVD)
IZUMO3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IZUMO3 Gene

Disorders for IZUMO3 Gene

Additional Disease Information for IZUMO3

No disorders were found for IZUMO3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IZUMO3 Gene

Publications for IZUMO3 Gene

  1. Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P … Civetta A (International journal of evolutionary biology 2012) 2 3
  2. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. (PMID: 19658160) Ellerman DA … Primakoff P (Molecular reproduction and development 2009) 2 3
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. (PMID: 28181694) Chesi A … Grant SF (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017) 3

Products for IZUMO3 Gene

Sources for IZUMO3 Gene