LAMC3 (laminin subunit gamma 3)

2003-06-01  

Identity

HGNC
LOCATION
9q34.12
LOCUSID
ALIAS
OCCM
FUSION GENES

Other Information

Locus ID:

NCBI: 10319
MIM: 604349
HGNC: 6494
Ensembl: ENSG00000050555

Variants:

dbSNP: 10319
ClinVar: 10319
TCGA: ENSG00000050555
COSMIC: LAMC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000050555ENST00000355452H7BY04
ENSG00000050555ENST00000361069Q9Y6N6

Expression (GTEx)

0
10
20
30
40
50
60

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
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
277498452016Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.36
215724132011Recessive LAMC3 mutations cause malformations of occipital cortical development.31
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
229617622013β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia.19
186977392008Laminin isoforms containing the gamma3 chain are unable to bind to integrins due to the absence of the glutamic acid residue conserved in the C-terminal regions of the gamma1 and gamma2 chains.18
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
263946012015Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.4
297952812018Laminin γ3 plays an important role in retinal lamination, photoreceptor organisation and ganglion cell differentiation.3
292473752018A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.0

Citation

Dessen P

LAMC3 (laminin subunit gamma 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41120/lamc3-(laminin-subunit-gamma-3)