Gene
LBR
lamin B receptor
- HGNC 6518↗(opens in a new tab)
- Ensembl gene ENSG00000143815↗(opens in a new tab)
- NCBI Gene 3930↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.12
- Coordinates
- Chromosome 1: 225,401,502–225,428,038 (GRCh38)
- Exons
- 14 exons across 26.5 kb
- Protein
- 615 amino acids
- Also known as
- DHCR14B, TDRD18
- MANE Select transcript
- ENST00000272163.9NM_002296.4
- 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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No Genome Test report reads LBR yet. The test sequences your whole genome, so your data includes it all the same.
How LBR 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 3.7 kb of the gene's 26.5 kb; 1,848 of those bases code for the protein.
How a genome test reads LBR
9
positions in LBR 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 26.5 kb of LBR, introns included, not only the 3.7 kb of exons.
Traits linked to LBR
The Human Phenotype Ontology lists these as features of the rare conditions LBR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- 11 pairs of ribs
- Anterior rib punctate calcifications
- Barrel-shaped chest
- Costal cartilage calcification
- Flattened vertebrae
- Horizontal ribs
- Laryngeal calcification
- Long collarbone
Show 38 more traits
- Multiple rib fractures
- Ovoid vertebral bodies
- Permanent flexion of the finger or toe
- Prominent swayback
- Recurrent fractures
- Short long bone
- Short ribs
- Small chest
- Thoracic platyspondyly
- Thoracolumbar kyphosis
- Tracheal calcification
- Abnormal bone maturation
- Abnormal bone maturation of vertebra
- Abnormal maturation of the pelvis bone
- Abnormal vertebral body morphology
- Narrow chest
- Arthritis
- Double-Jointed
- Ectopic calcification
- Ectopic ossification
- Fractured rib
- Hunched back
- Joint dislocation
- Low muscle tone
- Multiple fractures present at birth
- Speckled calcifications in end part of bone
- Supernumerary vertebral ossification centers
- Thoracolumbar scoliosis
- Underdeveloped back bones
- Abnormality of the shoulder blade
- Absent or minimally ossified vertebral bodies
- Calcinosis cutis
- Calcium buildup in soft tissues of body
- Horizontal sacrum
- Lethal skeletal dysplasia
- Patchy increased and decreased bone mineral density
- Punctate vertebral calcifications
- Sternal punctate calcifications
Abnormality of limbs
- Absent outermost hand bone
- Bowed long bone in upper arm
- Bowed thighbone
- Bowing of outer large bone of the forearm
- Disproportionately short upper portion of limb
- Flared wide portion of long bone
- Foot drop
- High-arched foot
Show 30 more traits
- Inability to straighten knee
- Irregular wide portion of a long bone
- Knock knees
- Limited elbow extension
- Lower limb hypertonia
- Metaphyseal cupping
- Metaphyseal dysplasia
- Palmar telangiectasia
- Short fingers or toes
- Short neck of thighbone
- Shortened 4th long bone of hand
- Shortened 5th long bone of hand
- Shortened long bone of hand
- Small heel bone
- Tetraphocomelia
- Extra little finger
- Smaller or shorter than typical limbs
- Broad big toe
- Broad palm
- Disproportionately short middle portion of limb
- Limb undergrowth
- Short finger
- Talipes
- Extra toe attached near the little toe
- Shortened 3rd long bone of hand
- Upper limb undergrowth
- More than five fingers or toes on hands or feet
- Short finger bones
- Thickening of shaft or central part of long bones
- Ulnar deviation of the hand
Abnormality of head or neck
- Abnormal dentition
- Central cleft palate
- Cystic hygroma
- Depressed nasal bridge
- Frontal bossing
- Gum enlargement
- Prominent brow
- Receding chin
Show 17 more traits
- Midface retrusion
- Big calvaria
- Cranial defect
- Decreased bone formation of skull
- Decreased salivary flow
- Decreased size of maxilla
- Dense bone of skull base
- Dry eye syndrome
- Flat nose
- Flattening of the skull base
- Increased nuchal translucency
- Little foramen magnum
- Little lower jaw
- Relatively large head
- High forehead
- Prominent forehead
- Spider veins of the lip
Abnormality of blood and blood-forming tissues
- Abnormality of neutrophils
- Decreased blood lymphocyte number
- Hyposegmentation of neutrophil nuclei
- Abnormal leukocyte morphology
- Giant platelets
- Low blood neutrophil count
- Low platelet count
- Bone marrow failure
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.). LBR gene: lamin B receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/lbr
Dante Labs. LBR gene: lamin B receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lbr
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