Gene
ITCH
itchy E3 ubiquitin protein ligase
- HGNC 13890↗(opens in a new tab)
- Ensembl gene ENSG00000078747↗(opens in a new tab)
- NCBI Gene 83737↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q11.22
- Coordinates
- Chromosome 20: 34,363,273–34,511,773 (GRCh38)
- Exons
- 25 exons across 148.5 kb
- Protein
- 862 amino acids
- Also known as
- AIP4
- MANE Select transcript
- ENST00000374864.10NM_031483.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads ITCH yet. The test sequences your whole genome, so your data includes it all the same.
How ITCH 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 6.7 kb of the gene's 148.5 kb; 2,589 of those bases code for the protein.
How a genome test reads ITCH
16
positions in ITCH where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 148.5 kb of ITCH, introns included, not only the 6.7 kb of exons.
Traits linked to ITCH
The Human Phenotype Ontology lists these as features of the rare conditions ITCH can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormal facial shape
- Beaked nose
- Blockage of the rear opening of the nasal cavity
- Frontal bossing
- Low hanging columella
- Short chin
- Short philtrum
- Relatively large head
Show 3 more traits
Abnormality of the digestive system
- Acid reflux
- Feeding difficulties in infancy
- Enlarged liver
- Gastrostomy tube feeding in infancy
- Liver inflammation
- Abnormality of the intestine
- Acute liver failure
- Bile duct inflammation
Show 2 more traits
Abnormality of the musculoskeletal system
- Delayed bone maturation
- Excessive inward curvature of lower spine
- Funnel chest
- Increased vertebral height
- Low muscle tone
- Permanent flexion of the finger or toe
- Slender long bone
- Thoracic kyphoscoliosis
Show 2 more traits
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.). ITCH gene: itchy E3 ubiquitin protein ligase. Retrieved 16 October 2026, from https://dantelabs.com/genes/itch
Dante Labs. ITCH gene: itchy E3 ubiquitin protein ligase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/itch
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