|
Gene id |
55818 |
| Gene Summary SNPs KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KDM3A Gene UCSC Ensembl |
|
Aliases |
JHDM2A, JHMD2A, JMJD1, JMJD1A, TSGA |
|
Gene name |
lysine demethylase 3A |
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Alternate names |
lysine-specific demethylase 3A, jmjC domain-containing histone demethylation protein 2A, jumonji C domain-containing histone demethylase 2A, jumonji domain-containing protein 1A, lysine (K)-specific demethylase 3A, testis-specific protein A, |
|
Gene location |
2p11.2 (86440646: 86492715) Exons: 28 NC_000008.11
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|
Gene summary(Entrez) |
This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
|
|
OMIM |
611512 |
SNPs |
rs34605051
Strand: Allele origin: Allele change: Mutation type: snv
NC_000002.12 g.86466703T>C
NC_000002.11 g.86693826T>C
NG_047167.1 g.31057T>C
NM_018433.6 c.1339T>C
NM_018433.5 c.1339T>C
NM_001146688.1 c.1339T>C
XM_006712051.4 c.-637T>C
XM_024452995.1 c.1339T>C
XM_024452994.1 c.1339T>C
XM_017004494.1 c.484T>C
XM_02
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| Associated diseases |
References |
| Azoospermia | GAD: 20378615 |
| Oligozoospermia | GAD: 20378615 |
| Maintanence of male germ cells | MIK: 24006281 |
| Required for cytoskeletal rearrangements during spermatogenesis | MIK: 24554764 |
| Male factor infertility | MIK: 27692601 |
| This deficiency causes extensive germ cell apoptosis and blocked spermatid elongation, resulting in severe oligozoospermia, small testes, and infertility in male mice | MIK: 19910458 |
| Spermatogenesis defects | MIK: 17943087 |
| Round spermatid | MIK: 27692601 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Azoospermia | MIK: 30053768 |
| Spermatogenic defects | MIK: 24006281 |
| Oligozoospermia | MIK: 21989496 |
| Required for cytoskeletal rearrangements during spermatogenesis | MIK: 24554764 |
| Role in spermatogenesis | MIK: 17943087 |
| Male infertility | MIK: 27692601 |
| Teratozoospermia | MIK: 17327269 |
| This deficiency causes extensive germ cell apoptosis and blocked spermatid elongation, resulting in severe oligozoospermia, small testes, and infertility in male mice | MIK: 19910458 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19910458 |
This defic
iency caus
es extensi
ve germ ce
ll apoptos
is and blo
cked sperm
atid elong
ation, res
ulting in
severe oli
gozoosperm
ia, small
testes, an
d infertil
ity in mal
e mice
|
|
|
|
Male infertility |
|
Show abstract |
| 17943087 |
Role in sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 27692601 |
Round sper
matid, Mal
e infertil
ity
|
|
|
79 infertile me
n (26 obstructi
ve azoospermia,
29 round sperm
atid maturation
arrest, 24 Ser
toli only syndr
ome)
|
Male infertility |
|
Show abstract |
| 24554764 |
Required f
or cytoske
letal rear
rangements
during sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 24006281 |
Maintanenc
e of male
germ cells
|
|
|
|
Male infertility |
|
Show abstract |
| 20378615 |
Oligozoosp
ermia or a
zoospermia
|
rs34605051 |
Europea
n
|
442 (158 normos
permic controls
, 63 moderately
oligozoospermi
c samples, 141
severe oligozoo
spermic samples
and 80 non-obs
tructed azoospe
rmic samples)
|
Male infertility |
GWAS
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 21989496 |
Oligozoosp
ermia
|
|
|
11 (8 infertile
and 3 fertile
men)
|
Male infertility |
Microarray
|
Show abstract |
| 30053768 |
Azoospermi
a, Oligozo
ospermia,
Male infer
tility
|
Transversion point mutation in exon 12 and a single nucleotide deletion in exon 24 |
|
300 (150 infert
ile men (oligoz
oospermia and a
zoospermia) and
150 normal hea
lthy fathers)
|
Male infertility |
|
Show abstract |
|