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    ZMYND15 zinc finger MYND-type containing 15 [ Homo sapiens (human) ]

    Gene ID: 84225, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZMYND15provided by HGNC
    Official Full Name
    zinc finger MYND-type containing 15provided by HGNC
    Primary source
    HGNC:HGNC:20997
    See related
    Ensembl:ENSG00000141497 MIM:614312; AllianceGenome:HGNC:20997
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF14
    Summary
    This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
    Expression
    Biased expression in testis (RPKM 15.6), lung (RPKM 3.5) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZMYND15 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4739833..4746119)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4629276..4635789)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4643128..4649414)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47220 Neighboring gene arrestin beta 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4621547-4622746 Neighboring gene MPRA-validated peak2699 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4634559-4635378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4641736-4642641 Neighboring gene mediator complex subunit 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4642642-4643546 Neighboring gene C-X-C motif chemokine ligand 16 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4667359-4667521 Neighboring gene transmembrane 4 L six family member 5 Neighboring gene vitelline membrane outer layer 1 homolog

    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. Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia. Wen Y, et al. J Med Genet, 2023 Apr. PMID 35973810
    2. From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene. Kherraf ZE, et al. Asian J Androl, 2022 May-Jun. PMID 35017390, Free PMC Article
    3. Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility. Hu TY, et al. Hum Mutat, 2021 Jan. PMID 33169450
    4. Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia? Hashemi MS, et al. Andrologia, 2020 Mar. PMID 31793700
    5. Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. Ayhan Ö, et al. J Med Genet, 2014 Apr. PMID 24431330

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia.
      Title: Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia.
    2. Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.
      Title: Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.
    3. From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
      Title: From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
    4. Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia?
      Title: Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia?
    5. Two candidate loci in each family and homozygous truncating mutations p.R611X in TAF4B in family 1 and p.K507Sfs*3 in ZMYND15 in family 2, were identified.
      Title: Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure 14
    MedGen: C4014454 OMIM: 615842 GeneReviews: Not available
    		Compare labs

    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

    • DKFZp434N127

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger MYND domain-containing protein 15

    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.

    Genomic

    1. NG_034160.1 RefSeqGene

      Range
      4819..11099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136046.3 → NP_001129518.1  zinc finger MYND domain-containing protein 15 isoform 1

      See identical proteins and their annotated locations for NP_001129518.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AC091153, AK302181, DB453494
      Consensus CDS
      CCDS45584.1
      UniProtKB/Swiss-Prot
      B4DXY5, I3L296, Q9H091
      Related
      ENSP00000391742.1, ENST00000433935.6
      Conserved Domains (1) summary
      pfam01753
      Location:313 → 359
      zf-MYND; MYND finger

    2. NM_001267822.1 → NP_001254751.1  zinc finger MYND domain-containing protein 15 isoform 3

      See identical proteins and their annotated locations for NP_001254751.1

      Status: REVIEWED

      Source sequence(s)
      AA937353, AK302181, BC067296, DB453494
      Consensus CDS
      CCDS58506.1
      UniProtKB/Swiss-Prot
      Q9H091
      Related
      ENSP00000269289.6, ENST00000269289.10
      Conserved Domains (1) summary
      pfam01753
      Location:313 → 359
      zf-MYND; MYND finger

    3. NM_032265.2 → NP_115641.1  zinc finger MYND domain-containing protein 15 isoform 2

      See identical proteins and their annotated locations for NP_115641.1

      Status: REVIEWED

      Source sequence(s)
      AA937353, AC091153, AL136893, DB453494
      Consensus CDS
      CCDS11053.1
      UniProtKB/Swiss-Prot
      Q9H091
      Related
      ENSP00000465435.1, ENST00000592813.5
      Conserved Domains (1) summary
      pfam01753
      Location:313 → 359
      zf-MYND; MYND finger

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4739833..4746119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025218.2 → XP_016880707.2  zinc finger MYND domain-containing protein 15 isoform X3

    2. XM_047436923.1 → XP_047292879.1  zinc finger MYND domain-containing protein 15 isoform X1

    3. XM_047436924.1 → XP_047292880.1  zinc finger MYND domain-containing protein 15 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4629276..4635789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317542.1 → XP_054173517.1  zinc finger MYND domain-containing protein 15 isoform X2

    2. XM_054317543.1 → XP_054173518.1  zinc finger MYND domain-containing protein 15 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H091.2 GenPept UniProtKB/Swiss-Prot:Q9H091

    Gene LinkOut

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

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