Gene
UBR5
ubiquitin protein ligase E3 component n-recognin 5
- HGNC 16806↗(opens in a new tab)
- Ensembl gene ENSG00000104517↗(opens in a new tab)
- NCBI Gene 51366↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q22.3
- Coordinates
- Chromosome 8: 102,252,273–102,412,700 (GRCh38)
- Exons
- 59 exons across 160.4 kb
- Protein
- 2,799 amino acids
- Also known as
- DD5, HYD, EDD, KIAA0896
- Previous symbols
- EDD1
- MANE Select transcript
- ENST00000520539.6NM_015902.6
- Locus type
- gene with protein product
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No Genome Test report reads UBR5 yet. The test sequences your whole genome, so your data includes it all the same.
How UBR5 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 10.9 kb of the gene's 160.4 kb; 8,400 of those bases code for the protein.
How a genome test reads UBR5
2
positions in UBR5 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 160.4 kb of UBR5, introns included, not only the 10.9 kb of exons.
Traits linked to UBR5
The Human Phenotype Ontology lists these as features of the rare conditions UBR5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Agitation
- Anxiety
- Aplasia of the olfactory bulb
- Attention deficit
- Autism
- Choreoathetosis
- Delayed ability to roll over
- Dystonia
Show 23 more traits
- Febrile seizure (within the age range of 3 months to 6 years)
- Impulsivity
- Infantile spasms
- Inflexible adherence to routines
- Intellectual disability, mild
- Intellectual disability, severe
- IQ between 34 and 49
- Motor delay
- Obsessive-compulsive trait
- Paroxysmal dyskinesia
- Reading disability
- Reduced social reciprocity
- Repetitive movements
- Tic disorder
- Tremor
- Delayed speech and language development
- Global developmental delay
- Autism spectrum disorder
- Delayed ability to walk
- Intellectual disability
- Epileptic encephalopathy
- Focal impaired awareness seizure
- Tonic seizure
Abnormality of head or neck
- Broad head shape
- Broad opening between the eyelids
- Eye folds
- Monobrow
- Narrow eyelid opening
- Narrow palate
- Nasal tip, upturned
- Pierre-Robin sequence
Show 5 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.). UBR5 gene: ubiquitin protein ligase E3 component n-recognin 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/ubr5
Dante Labs. UBR5 gene: ubiquitin protein ligase E3 component n-recognin 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ubr5
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