CUL7 Chromosome 6
Cullin 7
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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 |
|---|---|---|---|
| RS61752334 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, 3M syndrome 1, 3-M syndrome |
| RS746333044 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS748555538 | Health Risk | Pathogenic/Likely pathogenic | 3-M syndrome, 3M syndrome 1, 3-M syndrome |
| RS759300846 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 1, 3-M syndrome, 3M syndrome 1 |
| RS786205651 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |