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IZUMO4 IZUMO family member 4 [ Homo sapiens (human) ]

Gene ID: 113177, updated on 5-Mar-2024

Summary

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Official Symbol
IZUMO4provided by HGNC
Official Full Name
IZUMO family member 4provided by HGNC
Primary source
HGNC:HGNC:26950
See related
Ensembl:ENSG00000099840 MIM:618897; AllianceGenome:HGNC:26950
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
C19orf36; IMAGE:4215339
Summary
Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 134.0) See more
Orthologs
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Genomic context

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See IZUMO4 in Genome Data Viewer
Location:
19p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2096915..2099590)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2069970..2072645)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2096914..2099589)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2037698-2038472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2046519-2047019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2047523-2048180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2048181-2048837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2049495-2050151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9761 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2053416-2053640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9762 Neighboring gene MAPK interacting serine/threonine kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2058351-2059250 Neighboring gene CRISPRi-validated cis-regulatory element chr19.488 Neighboring gene CRISPRi-validated cis-regulatory element chr19.489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2061953-2062851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2085331-2086056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2089069-2090031 Neighboring gene MOB kinase activator 3A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2096431-2096958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2096959-2097484 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2104508-2104680 Neighboring gene adaptor related protein complex 3 subunit delta 1 Neighboring gene MPRA-validated peak3230 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2141381-2141538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2144918-2145541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2145542-2146164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13657 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2150717-2150878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13658 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2151574-2152011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9771 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2165242-2165623 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:2168563-2169762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2171045-2171639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2171640-2172234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2173473-2173991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2180689-2181272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13664 Neighboring gene DOT1 like histone lysine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2195534-2196062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2196063-2196591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2200246-2201219 Neighboring gene uncharacterized LOC124904611

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. Discovery of a Human Testis-specific Protein Complex TEX101-DPEP3 and Selection of Its Disrupting Antibodies. Schiza C, et al. Mol Cell Proteomics, 2018 Dec. PMID 30097533, Free PMC Article
  4. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
  5. 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

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
izumo sperm-egg fusion protein 4
Names
sperm 22 kDa protein c113

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_001031735.3 → NP_001026905.2  izumo sperm-egg fusion protein 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001026905.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame segment, compared to variant 3, resulting in a shorter protein (isoform 1) that has a shorter C-terminus, compared to isoform 3.
    Source sequence(s)
    AC005328, AW182303, BC014609, BX378854
    Consensus CDS
    CCDS35499.1
    UniProtKB/TrEMBL
    O75250
    Related
    ENSP00000378718.2, ENST00000395307.6
    Conserved Domains (1) summary
    pfam15005
    Location:17 → 158
    IZUMO; Izumo sperm-egg fusion, Ig domain-associated

  2. NM_001039846.2 → NP_001034935.1  izumo sperm-egg fusion protein 4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001034935.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longer protein (isoform 3).
    Source sequence(s)
    AC005328, AW182303, BI827974, BX378854
    Consensus CDS
    CCDS42458.1
    UniProtKB/Swiss-Prot
    A7RA93, A7RA94, Q1ZYL8, Q6UXA2, Q96FT6, Q96L02
    UniProtKB/TrEMBL
    O75250
    Related
    ENSP00000378712.3, ENST00000395301.8
    Conserved Domains (1) summary
    pfam15005
    Location:17 → 158
    IZUMO; Izumo sperm-egg fusion, Ig domain-associated

  3. NM_001363588.2 → NP_001350517.1  izumo sperm-egg fusion protein 4 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC005328, AW182303, BC014609, BI828436
    Consensus CDS
    CCDS86690.1
    UniProtKB/TrEMBL
    A0A0A0MS61, O75250
    Related
    ENSP00000378709.2, ENST00000395296.5
    Conserved Domains (1) summary
    pfam15005
    Location:18 → 158
    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
    2096915..2099590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    2069970..2072645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_052878.1: Suppressed sequence

    Description
    NM_052878.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q1ZYL8.2 GenPept UniProtKB/Swiss-Prot:Q1ZYL8

Gene LinkOut

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