Gene id |
84225 |
Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
ZMYND15 Gene UCSC Ensembl |
Aliases |
SPGF14 |
Gene name |
zinc finger MYND-type containing 15 |
Alternate names |
zinc finger MYND domain-containing protein 15, |
Gene location |
17p13.2 (4740014: 4746118) Exons: 14 NC_000017.11
|
Gene summary(Entrez) |
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
|
OMIM |
614312 |
SNPs |
rs587777432
Strand: Allele origin: Allele change: Mutation type: delins
NC_000017.11 g.4744210_4744213AACA[1]
NC_000017.10 g.4647505_4647508AACA[1]
NG_034160.1 g.9196_9199AACA[1]
NM_001136046.3 c.1516_1519AACA[1]
NM_001136046.2 c.1516_1519AACA[1]
NM_032265.2 c.1399_1402AACA[1]
NM_001267822.1 c.1516_1519AACA[1]
XM_0170252
|
Protein Summary
|
Protein general information
| Q9H091
Name: Zinc finger MYND domain containing protein 15
Length: 742 Mass: 81,860
|
Sequence |
MEFVSGYRDEFLDFTALLFGWFRKFVAERGAVGTSLEGRCRQLEAQIRRLPQDPALWVLHVLPNHSVGISLGQGA EPGPGPGLGTAWLLGDNPPLHLRDLSPYISFVSLEDGEEGEEEEEEDEEEEKREDGGAGSTEKVEPEEDRELAPT SRESPQETNPPGESEEAAREAGGGKDGCREDRVENETRPQKRKGQRSEAAPLHVSCLLLVTDEHGTILGIDLLVD GAQGTASWGSGTKDLAPWAYALLCHSMACPMGSGDPRKPRQLTVGDARLHRELESLVPRLGVKLAKTPMRTWGPR PGFTFASLRARTCHVCHRHSFEAKLTPCPQCSAVLYCGEACLRADWQRCPDDVSHRFWCPRLAAFMERAGELATL PFTYTAEVTSETFNKEAFLASRGLTRGYWTQLSMLIPGPGFSRHPRGNTPSLSLLRGGDPYQLLQGDGTALMPPV PPHPPRGVFGSWQDYYTWRGLSLDSPIAVLLTYPLTVYYVITHLVPQSFPELNIQNKQSLKIHVVEAGKEFDLVM VFWELLVLLPHVALELQFVGDGLPPESDEQHFTLQRDSLEVSVRPGSGISARPSSGTKEKGGRRDLQIKVSARPY HLFQGPKPDLVIGFNSGFALKDTWLRSLPRLQSLRVPAFFTESSEYSCVMDGQTMAVATGGGTSPPQPNPFRSPF RLRAADNCMSWYCNAFIFHLVYKPAQGSGARPAPGPPPPSPTPSAPPAPTRRRRGEKKPGRGARRRK
|
Structural information |
|
Other Databases |
GeneCards: ZMYND15  Malacards: ZMYND15 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0006351 |
transcription, DNA-templa ted
|
IEA |
biological process |
GO:0007286 |
spermatid development
|
IEA |
biological process |
GO:0042826 |
histone deacetylase bindi ng
|
IEA |
molecular function |
GO:0045892 |
negative regulation of tr anscription, DNA-template d
|
IEA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0006351 |
transcription, DNA-templa ted
|
IEA |
biological process |
GO:0006355 |
regulation of transcripti on, DNA-templated
|
IEA |
biological process |
GO:0007283 |
spermatogenesis
|
IEA |
biological process |
GO:0007286 |
spermatid development
|
IEA |
biological process |
GO:0030154 |
cell differentiation
|
IEA |
biological process |
GO:0042826 |
histone deacetylase bindi ng
|
IEA |
molecular function |
GO:0045892 |
negative regulation of tr anscription, DNA-template d
|
IEA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
|
|
Associated diseases |
References |
Azoospermia | MIK: 24431330 |
Maturation arrest | MIK: 24431330 |
Oligozoospermia | MIK: 24431330 |
Spermatogenesis defects | OMIM: 614312 |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Azoospermia | MIK: 24431330 |
Oligozoospermia | MIK: 24431330 |
Spermatogenic defects | MIK: 24431330 |
Cryptorchidism | MIK: 28606200 |
Non obstructive azoospermia | MIK: 24012201 |
Transcriptional repressor essential for sperm production and male fertility | MIK: 20675388 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
24431330 |
Azoospermi a, Oligozo ospermia, maturation arrest
|
TAF4B (p.R611X), ZMYND15 (p.K507Sfs*3 ) |
|
7 (Family1: 3 a zoospermic brot hers, 1 oligozo ospermic brothe r; Family2: 3 a zoospermic brot ers)
|
Male infertility |
|
Show abstract |
20675388 |
Transcript ional repr essor esse ntial for sperm prod uction and male fert ility
|
|
|
|
Male infertility |
|
Show abstract |
29713536 |
Sperm numb er defects
|
c.1520_1523delAACA (p.Lys507Serfs*3) |
|
|
Male infertility |
NGS
|
Show abstract |
24012201 |
Non obstru ctive azoo spermia
|
|
|
31 (4 controls, 27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|