Gene
ELFN1
extracellular leucine rich repeat and fibronectin type III domain containing 1
- HGNC 33154↗(opens in a new tab)
- Ensembl gene ENSG00000225968↗(opens in a new tab)
- NCBI Gene 392617↗(opens in a new tab)
Summary
- Cytogenetic location
- 7p22.3
- Coordinates
- Chromosome 7: 1,670,277–1,747,946 (GRCh38)
- Exons
- 4 exons across 77.7 kb
- Protein
- 828 amino acids
- Previous symbols
- PPP1R28
- MANE Select transcript
- ENST00000424383.5NM_001128636.4
- 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 ELFN1 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 4 kb of the gene's 77.7 kb; 2,487 of those bases code for the protein.
Traits linked to ELFN1
The Human Phenotype Ontology lists these as features of the rare conditions ELFN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Axial dystonia
- Babinski sign
- Delayed CNS myelination
- Delayed speech and language development
- EEG with burst suppression
- EEG with focal slow activity
- Generalized-onset motor seizure
Show 31 more traits
- Intellectual disability, severe
- Interictal EEG abnormality
- Lack of coordination of movement
- Leg paralysis
- Mild global developmental delay
- Moderate global developmental delay
- Motor seizure
- Repetitive movements
- Self-mutilation
- Severe global developmental delay
- Delayed ability to walk
- Abnormality of balance
- Attention deficit
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with generalized onset
- Clonus
- Delayed ability to sit
- Epilepsy
- Generalized clonic seizure
- Inability to walk
- Reduced cerebral white matter volume
- Thin corpus callosum
- Tonic seizure
- Unsteady walk
- Absent reflexes
- Epileptic spasm
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Generalized-onset seizure
- Increased reflexes
- Myoclonic seizure
- Repeated seizures without recovery between them
Abnormality of head or neck
- Broad chin
- Coarse facial features
- Decreased facial muscle tone
- Depressed nasal bridge
- Drooling
- Drooping lower lip
- Eye folds
- Full lower lip
Show 19 more traits
- High frontal hairline
- Long face
- Long philtrum
- Monobrow
- Narrow forehead
- Pointed chin
- Prominent forehead
- Receding chin
- Short columella
- Short philtrum
- Small head present at birth
- Smooth philtrum
- Sparse eyebrow
- Tented mouth
- Triangular face
- Upward slanting of the opening between the eyelids
- Wide mouth
- Prominent nasal bridge
- Thin red part of the upper lip
Abnormality of the musculoskeletal system
- Double-Jointed
- EMG: positive sharp waves
- Generalized decreased muscle tone
- Limb contractures
- Low muscle tone in trunk
- Poor head control
- Spastic tetraparesis
- Appendicular spasticity
Show 3 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.
- 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.). ELFN1 gene: extracellular leucine rich repeat and fibronectin type III domain containing 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/elfn1
Dante Labs. ELFN1 gene: extracellular leucine rich repeat and fibronectin type III domain containing 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/elfn1
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