TRIM71 Chromosome 3
Tripartite motif containing 71
Upload your DNA to see your personal genotypes for variants in TRIM71.
What This Gene Does
The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family"
Locus Type
gene with protein product
Location
3p22.3
Ensembl
ENSG00000206557
Associated Conditions (6)
Non-obstructive azoospermia
Hydrocephalus
congenital communicating
1
Congenital hydrocephalus
TRIM71-related disorder
Key Variants
RS201860756
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Hydrocephalus, congenital communicating
Health Risk
RS781320370
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Hydrocephalus, congenital communicating
Health Risk
RS1575362239
Likely pathogenic
Congenital hydrocephalus, Congenital hydrocephalus
Health Risk
RS1696081301
Likely pathogenic
Non-obstructive azoospermia, Non-obstructive azoospermia
Health Risk
RS2471021164
Likely pathogenic
TRIM71-related disorder, TRIM71-related disorder
Health Risk
RS1575362216
Pathogenic
Hydrocephalus, congenital communicating, 1
Health Risk
RS1575362492
Pathogenic
Hydrocephalus, congenital communicating, 1
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201860756 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, Hydrocephalus, congenital communicating |
| RS781320370 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, Hydrocephalus, congenital communicating |
| RS1575362239 | Health Risk | Likely pathogenic | Congenital hydrocephalus, Congenital hydrocephalus |
| RS1696081301 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS2471021164 | Health Risk | Likely pathogenic | TRIM71-related disorder, TRIM71-related disorder |
| RS1575362216 | Health Risk | Pathogenic | Hydrocephalus, congenital communicating, 1 |
| RS1575362492 | Health Risk | Pathogenic | Hydrocephalus, congenital communicating, 1 |