HERC2 Chromosome 15
HECT and RLD domain containing E3 ubiquitin protein ligase 2
Upload your DNA to see your personal genotypes for variants in HERC2.
What This Gene Does
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"Zinc fingers ZZ-type|HECT and RLD domain containing E3 ubiquitin protein ligases"
Locus Type
gene with protein product
Location
15q13.1
Ensembl
ENSG00000128731
Associated Conditions (10)
SKIN/HAIR/EYE PIGMENTATION 1
BLUE/NONBLUE EYES
Developmental delay with autism spectrum disorder and gait instability
Inborn genetic diseases
HERC2-related disorder
See cases
concomitant exotropia
Acute myeloid leukemia
8 conditions
Prader-Willi syndrome
Key Variants
RS12913832
association
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1
Health Risk
RS1667394
association
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1
Health Risk
RS112385654
Conflicting classifications of pathogenicity
Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
Health Risk
RS1385335623
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140345440
Conflicting classifications of pathogenicity
HERC2-related disorder, HERC2-related disorder
Health Risk
RS141969705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142880342
Conflicting classifications of pathogenicity
HERC2-related disorder, Inborn genetic diseases, HERC2-related disorder
Health Risk
RS1429361753
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS144218321
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146558015
Conflicting classifications of pathogenicity
HERC2-related disorder, Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability
Health Risk
RS148225341
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149437745
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12913832 | Health Risk | association | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS1667394 | Health Risk | association | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS112385654 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS1385335623 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140345440 | Health Risk | Conflicting classifications of pathogenicity | HERC2-related disorder, HERC2-related disorder |
| RS141969705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142880342 | Health Risk | Conflicting classifications of pathogenicity | HERC2-related disorder, Inborn genetic diseases, HERC2-related disorder |
| RS1429361753 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS144218321 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146558015 | Health Risk | Conflicting classifications of pathogenicity | HERC2-related disorder, Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability |
| RS148225341 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149437745 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS184647895 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS185865505 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HERC2-related disorder, concomitant exotropia |
| RS200412833 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200457382 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability |
| RS200632307 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with autism spectrum disorder and gait instability, Acute myeloid leukemia, Developmental delay with autism spectrum disorder and gait instability |
| RS200864382 | Health Risk | Conflicting classifications of pathogenicity | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Inborn genetic diseases |
| RS201681256 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201821203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201979656 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377613646 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534398599 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS574228980 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753743625 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability |
| RS758706329 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759656981 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760187120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS887750418 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1224448657 | Health Risk | Likely pathogenic | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS1279608901 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1596199137 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Developmental delay with autism spectrum disorder and gait instability |
| RS1596207451 | Health Risk | Likely pathogenic | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS2548818940 | Health Risk | Likely pathogenic | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS2548872276 | Health Risk | Likely pathogenic | — |
| RS2549098724 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS1057518934 | Health Risk | Pathogenic | 8 conditions, 8 conditions |
| RS1555415658 | Health Risk | Pathogenic | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS1891259083 | Health Risk | Pathogenic | Prader-Willi syndrome, Prader-Willi syndrome |
| RS2075831472 | Health Risk | Pathogenic | — |
| RS397518474 | Health Risk | Pathogenic | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS756221917 | Health Risk | Pathogenic | Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS777452432 | Health Risk | Pathogenic | — |
| RS371406398 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS575492335 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability |
| RS916977 | Trait | Affects | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |