|
Gene id |
56155 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TEX14 Gene UCSC Ensembl |
|
Aliases |
CT113, SPGF23 |
|
Gene name |
testis expressed 14, intercellular bridge forming factor |
|
Alternate names |
inactive serine/threonine-protein kinase TEX14, cancer/testis antigen 113, protein kinase-like protein SgK307, sugen kinase 307, testis-expressed protein 14, testis-expressed sequence 14 protein, |
|
Gene location |
17q22 (58692054: 58556676) Exons: 35 NC_000006.12
|
|
Gene summary(Entrez) |
The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
|
|
OMIM |
605792 |
|
| Associated diseases |
References |
| Cancer (breast) | GAD: 19454617 |
| Azoospermia | GAD: 20378615 |
| Oligozoospermia | GAD: 20378615 |
| Spermatogenesis defects | KEGG: H01282 |
| Essential for spermatogenesis | MIK: 16549803 |
| Plays a crucial role in speramtogenesis | MIK: 12711554 |
| Cryptorchidism | MIK: 28606200 |
| Essential for spermatogenesis and fertility | MIK: 16549803 |
| Maturation arrest | MIK: 31479588 |
| Nonobstructive azoospermia | MIK: 29790874 |
| Plays a key role in regulating gene expression or modulating nuclear events during mammalian spermatogenesis | MIK: 12711554 |
| Spermatogenic defects | MIK: 31037746 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16549803 |
Essential
for sperma
togenesis
and fertil
ity
|
|
|
|
Male infertility |
|
Show abstract |
| 12711554 |
Plays a ke
y role in
regulating
gene expr
ession or
modulating
nuclear e
vents duri
ng mammali
an spermat
ogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 29713536 |
Sperm numb
er defects
|
c.2668-2678del (Early stop codon) |
|
|
Male infertility |
NGS
|
Show abstract |
| 29790874 |
Nonobstruc
tive azoos
permia
|
c.C254A (p.Arg85Leu) |
|
37 familial cas
es, 75 individu
als with idiopa
thic NOA, 74 fe
rtile men
|
Male infertility |
NGS
|
Show abstract |
| 31479588 |
Maturation
arrest
|
c.4297G>A p.(Glu1433Lys), c.727C>G p.(Gln243Glu) |
Brazil,
South
America
n
|
19 non-obstruct
ive azoospermia
|
Male infertility |
NGS
|
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 |
|