Gene
UBE4B
ubiquitination factor E4B
- HGNC 12500↗(opens in a new tab)
- Ensembl gene ENSG00000130939↗(opens in a new tab)
- NCBI Gene 10277↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.22
- Coordinates
- Chromosome 1: 10,032,958–10,181,239 (GRCh38)
- Exons
- 28 exons across 148.3 kb
- Protein
- 1,302 amino acids
- Also known as
- UBOX3, E4, UFD2, KIAA0684
- MANE Select transcript
- ENST00000343090.11NM_001105562.3
- 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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How UBE4B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 5.9 kb of the gene's 148.3 kb; 3,909 of those bases code for the protein.
Traits linked to UBE4B
The Human Phenotype Ontology lists these as features of the rare conditions UBE4B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Low muscle tone
- 11 pairs of ribs
- Abnormal formation of the hip
- Cleft ribs
- Hunched back
- Joint stiffness
- Muscle tissue disease
- Narrow spinal canal
Show 2 more traits
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormal cardiac septum morphology
- Abnormal heart valve morphology
- Abnormality of the spleen
- Aortic arch aneurysm
- Patent ductus arteriosus
- Spider veins
- Stretched and thinned heart muscle
Show 1 more trait
Abnormality of the digestive system
- Acid reflux
- Constipation
- Feeding difficulties in infancy
- Poor swallowing
- Abnormality of the anus
- Abnormality of the intestine
- Abnormality of the liver
- Annular pancreas
Show 1 more trait
Abnormality of the eye
- Deeply set eye
- Abnormality of vision
- Cross-eyed
- Severe farsightedness
- Absent pigmentation in the eye
- Clouding of the lens of the eye
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). UBE4B gene: ubiquitination factor E4B. Retrieved 16 October 2026, from https://dantelabs.com/genes/ube4b
Dante Labs. UBE4B gene: ubiquitination factor E4B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ube4b
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