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    IZUMO2 IZUMO family member 2 [ Homo sapiens (human) ]

    Gene ID: 126123, updated on 22-Apr-2024

    Summary

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    Official Symbol
    IZUMO2provided by HGNC
    Official Full Name
    IZUMO family member 2provided by HGNC
    Primary source
    HGNC:HGNC:28518
    See related
    Ensembl:ENSG00000161652 MIM:618895; AllianceGenome:HGNC:28518
    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
    SCRL; C19orf41; PLAL6978; PRO21961
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 7.2) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50152548..50163281, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53239990..53250721, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50655805..50666538, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10950 Neighboring gene small NF90 (ILF3) associated RNA B2 Neighboring gene small NF90 (ILF3) associated RNA D Neighboring gene uncharacterized LOC124904746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50718498-50719073 Neighboring gene myosin heavy chain 14 Neighboring gene Sharpr-MPRA regulatory region 11309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14977 Neighboring gene Sharpr-MPRA regulatory region 8620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50795061-50795589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50795590-50796117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50816362-50816890 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50819536-50819716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50829251-50829772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10954 Neighboring gene Sharpr-MPRA regulatory region 11330/13384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10956 Neighboring gene uncharacterized LOC105372437 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50833762-50833941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14979 Neighboring gene potassium voltage-gated channel subfamily C member 3

    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. Positive Selection and the Evolution of izumo Genes in Mammals. Grayson P, et al. Int J Evol Biol, 2012. PMID 22957301, Free PMC Article
    2. 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
    3. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of IZUMO2 in colorectal cancer in association with clinicopathological features.
      Title: Expression of IZUMO2 in colorectal cancer in association with clinicopathological features.
    Submit: New GeneRIF Correction

    Phenotypes

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    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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    Markers

    Homology

    Clone Names

    • MGC33947

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    izumo sperm-egg fusion protein 2

    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_001321449.1 → NP_001308378.1  izumo sperm-egg fusion protein 2 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC020906, BC029535, DB523757
      UniProtKB/TrEMBL
      M0R2L8
      Related
      ENSP00000472657.1, ENST00000600293.5
      Conserved Domains (1) summary
      pfam15005
      Location:20 → 165
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated

    2. NM_152358.3 → NP_689571.2  izumo sperm-egg fusion protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_689571.2

      Status: VALIDATED

      Source sequence(s)
      AC020906
      Consensus CDS
      CCDS12792.2
      UniProtKB/Swiss-Prot
      Q5GRG3, Q5GRG4, Q6UXV1, Q6ZNM5, Q8NHR8
      UniProtKB/TrEMBL
      M0R2L8
      Related
      ENSP00000293405.3, ENST00000293405.8
      Conserved Domains (1) summary
      pfam15005
      Location:20 → 165
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50152548..50163281 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526437.3 → XP_011524739.1  izumo sperm-egg fusion protein 2 isoform X2

      Conserved Domains (1) summary
      pfam15005
      Location:20 → 158
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated

    2. XM_011526436.3 → XP_011524738.1  izumo sperm-egg fusion protein 2 isoform X1

      Conserved Domains (1) summary
      pfam15005
      Location:20 → 165
      IZUMO; Izumo sperm-egg fusion, Ig domain-associated

    RNA

    1. XR_935734.3 RNA Sequence

      Related
      ENST00000594854.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53239990..53250721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319772.1 → XP_054175747.1  izumo sperm-egg fusion protein 2 isoform X2

    2. XM_054319771.1 → XP_054175746.1  izumo sperm-egg fusion protein 2 isoform X1

    RNA

    1. XR_008485083.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXV1.1 GenPept UniProtKB/Swiss-Prot:Q6UXV1

    Gene LinkOut

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

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