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
153674842004Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.139
173719322007Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).119
205567982010Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.76
169127102006Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.55
174269502007Laminin isoforms in development and disease.42
180658032008Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).40
118912252002Laminin-10/11 and fibronectin differentially prevent apoptosis induced by serum removal via phosphatidylinositol 3-kinase/Akt- and MEK1/ERK-dependent pathways.30
205079402010Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.30
191474892009The C-terminal region of laminin beta chains modulates the integrin binding affinities of laminins.25
186722232008Ophthalmological aspects of Pierson syndrome.20

Citation

Dessen P

LAMB2 (laminin subunit beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

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