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

Gene ID: 101928601, updated on 8-Mar-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 gamete generation and meiosis I cell cycle process. Predicted to be active in lateral element. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney (RPKM 2.5), testis (RPKM 1.9) and 6 other tissues See more
Orthologs
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Genomic context

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Location:
6q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (77650274..77927045)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (78827553..79104425)
105.20220307 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
  • 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. Initiation of meiotic recombination in mammals. Kumar R, et al. Genes (Basel), 2010 Dec 22. PMID 24710101, Free PMC Article
  2. 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
  3. 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
  4. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
  5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

See all (7) 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

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_2023_10

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

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