Gene
LEMD3
LEM domain containing 3
- HGNC 28887↗(opens in a new tab)
- Ensembl gene ENSG00000174106↗(opens in a new tab)
- NCBI Gene 23592↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q14.3
- Coordinates
- Chromosome 12: 65,169,583–65,248,355 (GRCh38)
- Exons
- 13 exons across 78.8 kb
- Protein
- 911 amino acids
- Also known as
- MAN1
- MANE Select transcript
- ENST00000308330.3NM_014319.5
- 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 LEMD3 yet. The test sequences your whole genome, so your data includes it all the same.
How LEMD3 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 4.8 kb of the gene's 78.8 kb; 2,736 of those bases code for the protein.
How a genome test reads LEMD3
16
positions in LEMD3 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 78.8 kb of LEMD3, introns included, not only the 4.8 kb of exons.
Traits linked to LEMD3
The Human Phenotype Ontology lists these as features of the rare conditions LEMD3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Osteopoikilosis
- Scoliosis
- Abnormal bone maturation
- Abnormal cortical bone morphology
- Increased bone mineral density
- Abnormal maturation of the pelvis bone
- Abnormal shape of long bone
- Abnormal shape of pelvis bone
Show 14 more traits
- Bone overgrowth
- Increased bone density in foot bone
- Sclerotic foci in hand bones
- Abnormal bone maturation of vertebra
- Ankle pain
- Bone pain
- Joint stiffness
- Limitation of joint mobility
- Low muscle tone
- Multiple fatty lumps
- Muscle degeneration
- Sclerotic scapulae
- Flexed joint that cannot be straightened
- Melorheostosis
Abnormality of limbs
- Left and right leg differ in length or width
- Abnormality of limb bone
- Complete duplication of the outermost bones of the hand
- Abnormality of the thighbone
- Curvature of little finger
- Hardened spots within wrist bones
- Tarsal sclerosis
- Webbed fingers or toes
Show 1 more trait
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Intellectual disability, mild
- Specific learning disability
- Tremor
- Addictive alcohol use
- Chiari malformation
- Fluid-filled cyst in spinal cord
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.). LEMD3 gene: LEM domain containing 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/lemd3
Dante Labs. LEMD3 gene: LEM domain containing 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lemd3
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