LAMA2 (laminin subunit alpha 2)

2010-03-01  

Identity

HGNC
LOCATION
6q22.33
LOCUSID
ALIAS
LAMM,MDC1A
FUSION GENES

Other Information

Locus ID:

NCBI: 3908
MIM: 156225
HGNC: 6482
Ensembl: ENSG00000196569

Variants:

dbSNP: 3908
ClinVar: 3908
TCGA: ENSG00000196569
COSMIC: LAMA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196569ENST00000421865P24043
ENSG00000196569ENST00000617695A0A087WYF1
ENSG00000196569ENST00000618192A0A087WX80
ENSG00000196569ENST00000645154A0A2R8YDM5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
174269502007Laminin isoforms in development and disease.42
202075432010Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.42
115840422001The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.39
251599152014Diverse modes of genomic alteration in hepatocellular carcinoma.38
119384372002Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).35
126095022003Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice.32
248042152014Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.26
198934542009Promotion of tumor cell migration by extracellular matrix proteins in human pancreatic cancer.25
165041802006Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan.23

Citation

Dessen P

LAMA2 (laminin subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51361/lama2