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

Gene ID: 100129669, updated on 8-Mar-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. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.9) See more
Orthologs
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Genomic context

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Location:
9p21.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (24542952..24545897, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (24548941..24551927, complement)
105.20220307 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
  • 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_2023_10

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
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Research Materials
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