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    IZUMO3 IZUMO family member 3 [ Homo sapiens (human) ]

    Gene ID: 100129669, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IZUMO3provided by HGNC
    Official Full Name
    IZUMO family member 3provided by HGNC
    Primary source
    HGNC:HGNC:31421
    See related
    Ensembl:ENSG00000205442 MIM:618896; AllianceGenome:HGNC:31421
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C9orf134; bA20A20.1
    Summary
    Predicted to enable protein homodimerization activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 4.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See IZUMO3 in Genome Data Viewer
    Location:
    9p21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (24542952..24545897, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (24548941..24551927, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (24542950..24545895, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 791 pseudogene Neighboring gene uncharacterized LOC124902327 Neighboring gene NANOG hESC enhancer GRCh37_chr9:24408880-24409427 Neighboring gene uncharacterized LOC105375994 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:24544345-24545544 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:24579655-24580282 Neighboring gene NANOG hESC enhancer GRCh37_chr9:24774022-24774523 Neighboring gene RNA component of mitochondrial RNA processing endoribonuclease pseudogene 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:25075972-25076528 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:25076529-25077085 Neighboring gene RN7SK pseudogene 120

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. Chesi A, et al. J Bone Miner Res, 2017 Jun. PMID 28181694, Free PMC Article
    2. Positive Selection and the Evolution of izumo Genes in Mammals. Grayson P, et al. Int J Evol Biol, 2012. PMID 22957301, Free PMC Article
    3. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. Ellerman DA, et al. Mol Reprod Dev, 2009 Dec. PMID 19658160, Free PMC Article
    4. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    5. The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside. Sun X, et al. J Ginseng Res, 2022 Mar. PMID 35509820, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. two sex-specific loci(SPTB in females and IZUMO3 in males), yielding associations that were particularly strong at a specific skeletal site, were identified.
      Title: A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    izumo sperm-egg fusion protein 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271706.1 → NP_001258635.1  izumo sperm-egg fusion protein 3 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      HY054657, HY236269
      Consensus CDS
      CCDS65020.1
      UniProtKB/TrEMBL
      S4R3E6
      Related
      ENSP00000474246.1, ENST00000604921.5
      Conserved Domains (1) summary
      pfam15005
      Location:20 → 157
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated

    2. NM_001365008.2 → NP_001351937.1  izumo sperm-egg fusion protein 3 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL162232
      Consensus CDS
      CCDS94393.1
      UniProtKB/Swiss-Prot
      Q5VZ72
      Related
      ENSP00000438895.1, ENST00000543880.7
      Conserved Domains (1) summary
      pfam15005
      Location:21 → 162
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      24542952..24545897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716714.5 → XP_006716777.1  izumo sperm-egg fusion protein 3 isoform X1

      Conserved Domains (1) summary
      pfam15005
      Location:20 → 147
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      24548941..24551927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361691.1 → XP_054217666.1  izumo sperm-egg fusion protein 3 isoform X2

    2. XM_054361692.1 → XP_054217667.1  izumo sperm-egg fusion protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VZ72.4 GenPept UniProtKB/Swiss-Prot:Q5VZ72

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials