|
Gene id |
221400 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TDRD6 Gene UCSC Ensembl |
|
Aliases |
CT41.2, NY-CO-45, SPATA36, TDR2, bA446F17.4 |
|
Gene name |
tudor domain containing 6 |
|
Alternate names |
tudor domain-containing protein 6, antigen NY-CO-45, cancer/testis antigen 41.2, spermatogenesis associated 36, |
|
Gene location |
6p12.3 (46680267: 46704318) Exons: 5 NC_000006.12
|
|
Gene summary(Entrez) |
This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsens
|
|
OMIM |
611200 |
|
| Associated diseases |
References |
| Oligoasthenoteratozoospermia | MIK: 29551503 |
| Male factor infertility | MIK: 29551503 |
| Embryonic lethality | MIK: 29551503 |
| Oligoasthenoteratozoospermia | MIK: 29551503 |
| Male infertility | MIK: 29551503 |
| Embryonic lethality | MIK: 29551503 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29551503 |
Oligoasthe
noteratozo
ospermia,
Male infer
tility, em
bryonic le
thality
|
c.1259A>G:p.Y420C |
|
1 patient with
oligoasthenoter
atozoospermia
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|