CUL7 Chromosome 6
Cullin 7
Upload your DNA to see your personal genotypes for variants in CUL7.
What This Gene Does
The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Cullins|3M complex subunits"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000044090
Associated Conditions (7)
3M syndrome 1
Inborn genetic diseases
CUL7-related disorder
Hepatocellular carcinoma
Cervical cancer
3-M syndrome
Yakut short stature syndrome
Key Variants
RS1295466248
Conflicting classifications of pathogenicity
3M syndrome 1, Inborn genetic diseases, 3M syndrome 1
Health Risk
RS1363062305
Conflicting classifications of pathogenicity
3M syndrome 1, 3M syndrome 1
Health Risk
RS138043979
Conflicting classifications of pathogenicity
Health Risk
RS138730481
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS138777262
Conflicting classifications of pathogenicity
Health Risk
RS139243761
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS141211365
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS141692693
Conflicting classifications of pathogenicity
3M syndrome 1, 3M syndrome 1
Health Risk
RS141756281
Conflicting classifications of pathogenicity
Health Risk
RS143128153
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS144245050
Conflicting classifications of pathogenicity
3M syndrome 1, 3M syndrome 1
Health Risk
RS144269675
Conflicting classifications of pathogenicity
Health Risk
All Variants (155)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1581962986 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1763093575 | Health Risk | Pathogenic | — |
| RS1764426188 | Health Risk | Pathogenic | — |
| RS1764489246 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS184458742 | Health Risk | Pathogenic | — |
| RS201406974 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150304155 | Health Risk | Pathogenic | — |
| RS2150304168 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150311017 | Health Risk | Pathogenic | — |
| RS2150316275 | Health Risk | Pathogenic | — |
| RS2150323046 | Health Risk | Pathogenic | — |
| RS2150328611 | Health Risk | Pathogenic | — |
| RS2150328634 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150332479 | Health Risk | Pathogenic | — |
| RS2150332568 | Health Risk | Pathogenic | — |
| RS2532602526 | Health Risk | Pathogenic | 3-M syndrome, 3-M syndrome |
| RS2532656629 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2532661114 | Health Risk | Pathogenic | — |
| RS2532665441 | Health Risk | Pathogenic | — |
| RS2532670981 | Health Risk | Pathogenic | — |
| RS2532691323 | Health Risk | Pathogenic | — |
| RS2532691564 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2532698353 | Health Risk | Pathogenic | — |
| RS2532698441 | Health Risk | Pathogenic | — |
| RS2532718093 | Health Risk | Pathogenic | — |
| RS2532734964 | Health Risk | Pathogenic | — |
| RS374105452 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS377169342 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS730880261 | Health Risk | Pathogenic | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS730880262 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS730880263 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS730880301 | Health Risk | Pathogenic | Yakut short stature syndrome, Yakut short stature syndrome |
| RS747103340 | Health Risk | Pathogenic | — |
| RS749509661 | Health Risk | Pathogenic | Inborn genetic diseases, 3M syndrome 1, Inborn genetic diseases |
| RS752203346 | Health Risk | Pathogenic | — |
| RS758737233 | Health Risk | Pathogenic | 3-M syndrome, 3-M syndrome |
| RS760910667 | Health Risk | Pathogenic | 3-M syndrome, 3-M syndrome |
| RS761238421 | Health Risk | Pathogenic | — |
| RS761544849 | Health Risk | Pathogenic | — |
| RS762714074 | Health Risk | Pathogenic | — |
| RS764858516 | Health Risk | Pathogenic | — |
| RS765870874 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS794727644 | Health Risk | Pathogenic | — |
| RS864309521 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS886042376 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS886043872 | Health Risk | Pathogenic | — |
| RS886044397 | Health Risk | Pathogenic | — |
| RS121918229 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 1, 3-M syndrome, 3M syndrome 1 |
| RS1554138553 | Health Risk | Pathogenic/Likely pathogenic | 3-M syndrome, 3M syndrome 1, 3-M syndrome |
| RS1764272092 | Health Risk | Pathogenic/Likely pathogenic | — |