Gene
LAMB2
laminin subunit beta 2
- HGNC 6487(opens in a new tab)
- Ensembl gene ENSG00000172037(opens in a new tab)
- NCBI Gene 3913(opens in a new tab)
Summary
- Cytogenetic location
- 3p21.31
- Coordinates
- Chromosome 3: 49,121,114–49,133,050 (GRCh38)
- Exons
- 32 exons across 11.9 kb
- Protein
- 1,798 amino acids
- Also known as
- NPHS5
- Previous symbols
- LAMS
- MANE Select transcript
- ENST00000305544.9NM_002292.4
- 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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Nephrotic Syndrome
- Nephrosis
Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
- 3 GenCC submitters rate it definitive or strong
How LAMB2 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 5.7 kb of the gene's 11.9 kb; 5,397 of those bases code for the protein.
How a genome test reads LAMB2
89
positions in LAMB2 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 11.9 kb of LAMB2, introns included, not only the 5.7 kb of exons.
Traits linked to LAMB2
The Human Phenotype Ontology lists these as features of the rare conditions LAMB2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Decreased clarity of vision
- Rod-cone dystrophy
- Clouding of the lens of the eye
- Drooping of both upper eyelids
- Drooping upper eyelid
- Involuntary, rapid, rhythmic eye movements
- Macular hypoplasia
- Microcoria
Show 20 more traits
- Pigmentary retinopathy
- Remnants of the hyaloid vascular system
- Retinal detachment
- Weakness of muscles controlling eye movement
- Abnormally small eyeball
- Blindness
- Close sighted
- Cross-eyed
- Fundus hypopigmentation
- Limited extraocular movements
- Optic nerve hypoplasia
- Rieger anomaly
- Severe near sightedness
- Slow pupillary light response
- Spherophakia
- Underdeveloped iris
- Uveal ectropion
- Visual impairment
- Hypoplasia of the ciliary body
- Posterior lenticonus
Abnormality of the genitourinary system
- Diffuse mesangial sclerosis
- Glomerulonephritis
- Hyperechogenic kidneys
- Nephrotic syndrome
- Renal failure
- Stage 5 chronic kidney disease
- Congenital nephrotic syndrome
- Mesangial hypercellularity
Show 2 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.
- 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.
- 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.). LAMB2 gene: laminin subunit beta 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/lamb2
Dante Labs. LAMB2 gene: laminin subunit beta 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lamb2
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