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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

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