|
Gene id |
9742 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
IFT140 Gene UCSC Ensembl |
|
Aliases |
MZSDS, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1, gs114 |
|
Gene name |
intraflagellar transport 140 |
|
Alternate names |
intraflagellar transport protein 140 homolog, WD and tetratricopeptide repeats protein 2, intraflagellar transport 140 homolog, |
|
Gene location |
16p13.3 (1612071: 1510426) Exons: 40 NC_000021.9
|
|
Gene summary(Entrez) |
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surfa
|
|
OMIM |
614620 |
|
| Associated diseases |
References |
| Spermatogenesis defects | MIK: 29236364 |
| Short-rib thoracic dysplasia | KEGG: H02157 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 29236364 |
| Spermatogenic defects | MIK: 29236364 |
| Oligoasthenozoospermia | MIK: 31397098 |
| Asthenozoospermia | MIK: 31397098 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29236364 |
Important
for male f
ertility a
nd spermio
genesis
|
|
|
|
Male infertility |
|
Show abstract |
| 31397098 |
Spermatoge
nic dysfun
ction, Oli
gozoosperm
ia, asthen
ozoospermi
a, teratoz
oospermia
|
Exon16: c.1837G > A: p.Asp613Asn and exon31: c.4247G > A: p.Ser1416Asn |
|
1 fertile man p
resented with s
evere oligozoos
permia, astheno
zoospermia, and
teratozoosperm
ia (OAT) withou
t other physica
l abnormality,
3 family member
s
|
Male infertility |
NGS
|
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 |
|