Gene
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
- HGNC 4868↗(opens in a new tab)
- Ensembl gene ENSG00000128731↗(opens in a new tab)
- NCBI Gene 8924↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q13.1
- Coordinates
- Chromosome 15: 28,111,040–28,322,179 (GRCh38)
- Exons
- 93 exons across 211.1 kb
- Protein
- 4,834 amino acids
- Also known as
- jdf2, p528, D15F37S1
- MANE Select transcript
- ENST00000261609.13NM_004667.6
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads HERC2 yet. The test sequences your whole genome, so your data includes it all the same.
How HERC2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 15.4 kb of the gene's 211.1 kb; 14,505 of those bases code for the protein.
How a genome test reads HERC2
16
positions in HERC2 where ClinVar classes a change as pathogenic or likely pathogenic
7 of them (44%) fall in regions short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (7 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 211.1 kb of HERC2, introns included, not only the 15.4 kb of exons.
Traits linked to HERC2
The Human Phenotype Ontology lists these as features of the rare conditions HERC2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed ability to walk
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Autism spectrum disorder
- Motor delay
- Self-injurious behavior
- Specific learning disability
Show 21 more traits
- Unsteady walk
- Attention deficit
- Behavioral abnormality
- Difficulty sleeping
- Excessive daytime sleepiness
- Impaired pain sensation
- Increased appetite
- Pauses in breathing while sleeping
- Self-mutilation
- Ventriculomegaly
- Autism
- Epilepsy
- Febrile seizure (within the age range of 3 months to 6 years)
- Poor fine motor coordination
- Psychosis
- Aggressive behavior
- Echoing another person's speech
- More active than typical
- Poor concentration
- Poor gross motor coordination
- Recurrent hand flapping
Abnormality of head or neck
- Almond shaped eyes
- Downturned corners of mouth
- Narrow forehead
- Narrow nasal bridge
- Thin red part of the upper lip
- Dental cavities
- Upward slanting of the opening between the eyelids
- Asymmetry of the posterior head
Show 3 more traits
Abnormality of limbs
- Narrow palm
- Short foot
- Short palm
- Radial deviation of finger
- Webbed fingers or toes
- Acromicria
- Curvature of digit
- Gap between 1st and 2nd toes
Show 2 more traits
Abnormality of the genitourinary system
- Infertility
- Underdevelopment of external reproductive organs
- Undescended testes
- Light or infrequent menstrual periods
- Short penis
- Small clitoris
- Underdeveloped inner lips
- Primary amenorrhea
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HERC2 gene: HECT and RLD domain containing E3 ubiquitin protein ligase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/herc2
Dante Labs. HERC2 gene: HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/herc2
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