Gene
LRP12
LDL receptor related protein 12
- HGNC 31708↗(opens in a new tab)
- Ensembl gene ENSG00000147650↗(opens in a new tab)
- NCBI Gene 29967↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q22.3
- Coordinates
- Chromosome 8: 104,489,236–104,589,258 (GRCh38)
- Exons
- 7 exons across 100 kb
- Protein
- 859 amino acids
- Also known as
- ST7, FLJ12929
- MANE Select transcript
- ENST00000276654.10NM_013437.5
- 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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Distal Myopathies
- Distal myopathy
A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
How LRP12 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 4.4 kb of the gene's 100 kb; 2,580 of those bases code for the protein.
Genes linked to the same conditions
- ADSS1adenylosuccinate synthase 1Shares 1 condition
- ANO5anoctamin 5Shares 1 condition
- CRYABcrystallin alpha BShares 1 condition
- DNAJB4DnaJ heat shock protein family (Hsp40) member B4Shares 1 condition
- DYSFdysferlinShares 1 condition
- FLNCfilamin CShares 1 condition
- GIPC1GIPC PDZ domain containing family member 1Shares 1 condition
- GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseShares 1 condition
- LDB3LIM domain binding 3Shares 1 condition
- MATR3matrin 3Shares 1 condition
- MYH7myosin heavy chain 7Shares 1 condition
- MYOTmyotilinShares 1 condition
Traits linked to LRP12
The Human Phenotype Ontology lists these as features of the rare conditions LRP12 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Brain degeneration
- Difficulty articulating speech
- Lou Gehrig's disease
- Breathy speech
- Motor neuron atrophy
- Ongoing loss of nerve cells
- Abnormal cerebral white matter morphology
- Anxiety
Show 23 more traits
- Babinski sign
- Behavioral abnormality
- Can't control feelings
- Cognitive impairment
- Depression
- Diminished deep tendon reflex
- Hoffmann sign
- Increased reflexes
- Muscle twitch
- Paralysis
- Weakness of the vocal cords
- Abnormal gait
- Absent reflexes
- Ataxia
- Chaddock reflex
- Difficulty sleeping
- Frontotemporal dementia
- High stepping
- Jaw hyperreflexia
- Language impairment
- Loss of ability to walk
- Tremor
- Leg paralysis
Abnormality of the musculoskeletal system
- Distal muscle wasting
- Muscle spasm
- Muscle weakness
- Rimmed vacuoles
- EMG: myopathic abnormalities
- Generalized muscle weakness
- Abnormal morphology of musculature of pharynx
- Decreased lung function due to weak breathing muscles
Show 18 more traits
- Difficulty walking up stairs
- Distal lower limb amyotrophy
- EMG: myotonic discharges
- Fatigable weakness of bulbar muscles
- Fatigable weakness of respiratory muscles
- Fatigable weakness of swallowing muscles
- Fiber type grouping
- Involuntary muscle stiffness, contraction, or spasm
- Muscle degeneration
- Progressive distal muscle weakness
- Progressive distal muscular atrophy
- Proximal neurogenic muscle weakness
- Weakness of outermost muscles
- Difficulty in standing
- Progressive proximal muscle weakness
- Spastic paraparesis
- Autophagic vacuoles
- Increased variability in muscle fiber diameter
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). LRP12 gene: LDL receptor related protein 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/lrp12
Dante Labs. LRP12 gene: LDL receptor related protein 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lrp12
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