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

Gene ID: 84225, updated on 5-Mar-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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Location:
17p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4739833..4746119)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4629276..4635789)
105.20220307 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
  • 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
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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_2023_10

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

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