HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
Gene ID: 8924, updated on 4-Jan-2025Gene type: protein coding
Also known as: jdf2; p528; MRT38; SHEP1; D15F37S1
- See all available tests in GTR for this gene
- Go to complete Gene record for HERC2
- Go to Variation Viewer for HERC2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. GeneReviews: Not available | |
| Developmental delay with autism spectrum disorder and gait instability | See labs |
| Digital quantification of human eye color highlights genetic association of three new loci. GeneReviews: Not available | |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. GeneReviews: Not available | |
| Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. GeneReviews: Not available | |
| Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. GeneReviews: Not available | |
| Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. GeneReviews: Not available | |
| Prader-Willi syndrome | See labs |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | See labs |
| The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. GeneReviews: Not available | |
| Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. GeneReviews: Not available | |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 15q13.1
- Sequence:
- Chromosome: 15; NC_000015.10 (28111040..28322179, complement)
- Total number of exons:
- 98
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HERC2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HERC2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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