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    MEI4 meiotic double-stranded break formation protein 4 [ Homo sapiens (human) ]

    Gene ID: 101928601, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MEI4provided by HGNC
    Official Full Name
    meiotic double-stranded break formation protein 4provided by HGNC
    Primary source
    HGNC:HGNC:43638
    See related
    Ensembl:ENSG00000269964 MIM:618417; AllianceGenome:HGNC:43638
    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
    Summary
    Predicted to be involved in meiosis I cell cycle process; oogenesis; and spermatogenesis. Predicted to be located in chromosome. Predicted to be active in lateral element. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 2.5), testis (RPKM 1.9) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MEI4 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (77650274..77927045)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (78827553..79104425)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (78359991..78636762)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377864 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:78172074-78172218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24764 Neighboring gene uncharacterized LOC124901493 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95327 Neighboring gene 5-hydroxytryptamine receptor 1B Neighboring gene ribosomal protein S6 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17344 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:78425972-78426700 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:78426701-78427427 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:78427428-78428155 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:78435339-78436048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:78436049-78436759 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95486 Neighboring gene uncharacterized LOC105377865 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95584 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95703 Neighboring gene NANOG hESC enhancer GRCh37_chr6:78803625-78804263 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95763 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95771 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95804 Neighboring gene NANOG hESC enhancer GRCh37_chr6:78901647-78902148 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_95852 and experimental_95858 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95876 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95967 Neighboring gene MPRA-validated peak5909 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:79289792-79290318 Neighboring gene microRNA 10524 Neighboring gene uncharacterized LOC107986613 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:79568400-79568966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24765

    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. Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility. Pan Z, et al. Hum Genet, 2024 Oct. PMID 38252283
    2. A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia. Xu S, et al. Clin Genet, 2024 Apr. PMID 38148155
    3. Initiation of meiotic recombination in mammals. Kumar R, et al. Genes (Basel), 2010 Dec 22. PMID 24710101, Free PMC Article
    4. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. Wang W, et al. J Med Genet, 2020 Mar. PMID 31704776
    5. Functional conservation of Mei4 for meiotic DNA double-strand break formation from yeasts to mice. Kumar R, et al. Genes Dev, 2010 Jun 15. PMID 20551173, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.
      Title: Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.
    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 Variation Viewer (GRCh37.p13)

    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 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic DNA double-strand break formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic DNA double-strand break formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lateral element IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lateral element ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    meiosis-specific protein MEI4
    Names
    meiosis-specific 4 homolog
    meiosis-specific protein MEI4-like

    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_001282136.3 → NP_001269065.1  meiosis-specific protein MEI4

      See identical proteins and their annotated locations for NP_001269065.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL590785, AL591027, AL591500, CA841124
      Consensus CDS
      CCDS64463.1
      UniProtKB/Swiss-Prot
      A8MW99, R4GMV8
      Related
      ENSP00000473370.1, ENST00000602452.3
      Conserved Domains (1) summary
      pfam13971
      Location:1 → 377
      Mei4; Meiosis-specific protein Mei4

    2. NM_001322247.2 → NP_001309176.1  meiosis-specific protein MEI4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL590785, AL591027, AL591500, CA841124
      Consensus CDS
      CCDS64463.1
      UniProtKB/Swiss-Prot
      A8MW99, R4GMV8
      Related
      ENSP00000507827.1, ENST00000684080.1
      Conserved Domains (1) summary
      pfam13971
      Location:1 → 377
      Mei4; Meiosis-specific protein Mei4

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      77650274..77927045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010155.2 → XP_016865644.1  meiosis-specific protein MEI4 isoform X1

    2. XM_005248774.5 → XP_005248831.1  meiosis-specific protein MEI4 isoform X2

      Conserved Domains (1) summary
      pfam13971
      Location:14 → 279
      Mei4; Meiosis-specific protein Mei4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      78827553..79104425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354000.1 → XP_054209975.1  meiosis-specific protein MEI4 isoform X1

    2. XM_054354001.1 → XP_054209976.1  meiosis-specific protein MEI4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MW99.2 GenPept UniProtKB/Swiss-Prot:A8MW99

    Gene LinkOut

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

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