LAMB2 (laminin subunit beta 2)

2003-06-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
LAMS,NPHS5
FUSION GENES

Other Information

Locus ID:

NCBI: 3913
MIM: 150325
HGNC: 6487
Ensembl: ENSG00000172037

Variants:

dbSNP: 3913
ClinVar: 3913
TCGA: ENSG00000172037
COSMIC: LAMB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172037ENST00000305544P55268
ENSG00000172037ENST00000305544A0A024R319
ENSG00000172037ENST00000418109P55268
ENSG00000172037ENST00000418109A0A024R319
ENSG00000172037ENST00000494831F5H520

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Extracellular matrix organizationREACTOMER-HSA-1474244
Laminin interactionsREACTOMER-HSA-3000157
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
ECM proteoglycansREACTOMER-HSA-3000178
Signaling by METREACTOMER-HSA-6806834
MET promotes cell motilityREACTOMER-HSA-8875878
MET activates PTK2 signalingREACTOMER-HSA-8874081

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
376786122024Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.0
387235812024Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.0
376786122024Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.0
387235812024Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.0
335546902021Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.0
337496612021Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.1
335546902021Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.0
337496612021Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.1
292631592018Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.20
295991412018Switch in Laminin β2 to Laminin β1 Isoforms During Aging Controls Endothelial Cell Functions-Brief Report.17
292631592018Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.20
295991412018Switch in Laminin β2 to Laminin β1 Isoforms During Aging Controls Endothelial Cell Functions-Brief Report.17
276142942017The role of laminins in the organization and function of neuromuscular junctions.42
279255792017LAMB2 mutation with different phenotypes in China
.4
276142942017The role of laminins in the organization and function of neuromuscular junctions.42

Citation

Dessen P

LAMB2 (laminin subunit beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41116/lamb2