Gene
MEGF10
multiple EGF like domains 10
- HGNC 29634↗(opens in a new tab)
- Ensembl gene ENSG00000145794↗(opens in a new tab)
- NCBI Gene 84466↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q23.2
- Coordinates
- Chromosome 5: 127,290,796–127,461,222 (GRCh38)
- Exons
- 25 exons across 170.4 kb
- Protein
- 1,140 amino acids
- Also known as
- KIAA1780, SR-F3
- MANE Select transcript
- ENST00000503335.7NM_001256545.2
- 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 MEGF10 yet. The test sequences your whole genome, so your data includes it all the same.
How MEGF10 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 7.6 kb of the gene's 170.4 kb; 3,423 of those bases code for the protein.
How a genome test reads MEGF10
42
positions in MEGF10 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 170.4 kb of MEGF10, introns included, not only the 7.6 kb of exons.
Traits linked to MEGF10
The Human Phenotype Ontology lists these as features of the rare conditions MEGF10 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Axial muscle weakness
- Difficulty walking up stairs
- Elbow contracture
- Fatty replacement of skeletal muscle
- Generalized muscle wasting
- Generalized muscle weakness
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
Show 19 more traits
- Low muscle tone
- Low muscle tone in trunk
- Minicore myopathy
- Neck flexion weakness
- Neck muscle weakness
- Poor head control
- Progressive muscle weakness
- Prominent swayback
- Proximal neurogenic muscle weakness
- Scoliosis
- Type 1 and type 2 muscle fiber minicore regions
- EMG: myopathic abnormalities
- Diaphragmatic eventration
- Muscle fiber necrosis
- Diaphragmatic paralysis
- Difficulty running
- Funnel chest
- Low muscle tone, in neonatal onset
- Weak diaphragm
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.). MEGF10 gene: multiple EGF like domains 10. Retrieved 16 October 2026, from https://dantelabs.com/genes/megf10
Dante Labs. MEGF10 gene: multiple EGF like domains 10 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/megf10
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