ZMYND15 (zinc finger MYND-type containing 15)

Gene

• Entrez ID: 84225
• Gene name: Zinc finger MYND-type containing 15
• Gene symbol: ZMYND15
• Synonyms (NCBI Gene): SPGF14
• Chromosome: 17
• Chromosome location: 17p13.2
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777432	AACA>-	Pathogenic	Coding sequence variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IBA
GO:0007286	Process	Spermatid development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042826	Function	Histone deacetylase binding	IBA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 614312
• HGNC: 20997
• e!Ensembl: ENSG00000141497

Protein

• UniProt ID: Q9H091
• Protein name: Zinc finger MYND domain-containing protein 15
• Protein function: Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01753	zf-MYND	313 → 359	MYND finger	Domain

• Sequence:

  MEFVSGYRDEFLDFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLH
  VLPNHSVGISLGQGAEPGPGPGLGTAWLLGDNPPLHLRDLSPYISFVSLEDGEEGEEEEE
  EDEEEEKREDGGAGSTEKVEPEEDRELAPTSRESPQETNPPGESEEAAREAGGGKDGCRE
  DRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVDGAQGTASWGSGTKDL
  APWAYALLCHSMACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPR
  PGFTFASLRARTCHVCHRHSFEAKLTPCPQCSAVLYCGEACLRADWQRCPDDVSHRFWCP
  RLAAFMERAGELATLPFTYTAEVTSETFNKEAFLASRGLTRGYWTQLSMLIPGPGFSRHP
  RGNTPSLSLLRGGDPYQLLQGDGTALMPPVPPHPPRGVFGSWQDYYTWRGLSLDSPIAVL
  LTYPLTVYYVITHLVPQSFPELNIQNKQSLKIHVVEAGKEFDLVMVFWELLVLLPHVALE
  LQFVGDGLPPESDEQHFTLQRDSLEVSVRPGSGISARPSSGTKEKGGRRDLQIKVSARPY
  HLFQGPKPDLVIGFNSGFALKDTWLRSLPRLQSLRVPAFFTESSEYSCVMDGQTMAVATG
  GGTSPPQPNPFRSPFRLRAADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPPPPSPTPSA
  PPAPTRRRRGEKKPGRGARRRK

• Sequence length: 742

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Non-obstructive azoospermia	Pathogenic	rs148161063	RCV001648514	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 14	Pathogenic	rs587777432, rs2150630821, rs752801920, rs1484755918	RCV000122741 RCV001374582 RCV001374583 RCV001449969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Male infertility	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZMYND15-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	BEFREE	24431330, 31793700		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	30054974	Associate	★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	29305944		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obstructive azoospermia	Obstructive azoospermia	BEFREE	29305944		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 14	Spermatogenic Failure	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 14	Spermatogenic Failure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spherocytosis Type 1	Spherocytosis	Pubtator	30054974	Associate	★☆☆☆☆ Found in Text Mining only