Gene
NEDD4L
NEDD4 like E3 ubiquitin protein ligase
- HGNC 7728↗(opens in a new tab)
- Ensembl gene ENSG00000049759↗(opens in a new tab)
- NCBI Gene 23327↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q21.31
- Coordinates
- Chromosome 18: 58,044,226–58,401,539 (GRCh38)
- Exons
- 31 exons across 357.3 kb
- Protein
- 975 amino acids
- Also known as
- KIAA0439, RSP5, NEDD4-2
- MANE Select transcript
- ENST00000400345.8NM_001144967.3
- 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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No Genome Test report reads NEDD4L yet. The test sequences your whole genome, so your data includes it all the same.
How NEDD4L 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 8.6 kb of the gene's 357.3 kb; 2,928 of those bases code for the protein.
How a genome test reads NEDD4L
6
positions in NEDD4L 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 357.3 kb of NEDD4L, introns included, not only the 8.6 kb of exons.
Traits linked to NEDD4L
The Human Phenotype Ontology lists these as features of the rare conditions NEDD4L can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Gray matter heterotopia
- Periventricular nodular heterotopia
- Abnormal shape of nervous system
- Periventricular heterotopia
- Seizure affecting one half of brain
- Ataxia
- Brief seizures with staring spells
Show 13 more traits
- Choroid plexus cyst
- Cortical dysplasia
- Delayed CNS myelination
- Delayed motor skills
- Delayed speech and language development
- Epilepsy
- Hypsarrhythmia
- Infantile spasms
- More grooves in brain
- Persistent head lag
- Underdevelopment of part of brain called corpus callosum
- Absent speech development
- Intellectual disability
Abnormality of head or neck
- Cleft palate
- Dental crowding
- Little lower jaw
- Long face
- Long, narrow head
- Narrow mouth
- Nasal tip, upturned
- Pierre-Robin sequence
Show 3 more traits
Abnormality of limbs
- Webbed 2nd and 3rd toes
- Club feet
- Contracture of the proximal interphalangeal joint of the 2nd finger
- Contracture of the proximal interphalangeal joint of the 3rd finger
- Curvature of little finger
- Dislocated kneecap
- Inability to straighten knee
- Webbed 4th-5th finger
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.). NEDD4L gene: NEDD4 like E3 ubiquitin protein ligase. Retrieved 17 October 2026, from https://dantelabs.com/genes/nedd4l
Dante Labs. NEDD4L gene: NEDD4 like E3 ubiquitin protein ligase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nedd4l
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