Entity Details

Primary name LAMC2
Entity type gene
Source Source Link

Details

PrimaryID3918
RefseqGeneNG_007079
SymbolLAMC2
Namelaminin subunit gamma 2
Chromosome1
Location1q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-11-10
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsLAMC2_HUMAN

GO terms

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GOName
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005607 laminin-2 complex
GO:0005615 extracellular space
GO:0005938 cell cortex
GO:0007155 cell adhesion
GO:0008045 motor neuron axon guidance
GO:0008201 heparin binding
GO:0008284 positive regulation of cell population proliferation
GO:0008544 epidermis development
GO:0009887 animal organ morphogenesis
GO:0009888 tissue development
GO:0016020 membrane
GO:0016358 dendrite development
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030335 positive regulation of cell migration
GO:0031581 hemidesmosome assembly
GO:0048471 perinuclear region of cytoplasm
GO:0062023 collagen-containing extracellular matrix

Diseases

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Disease IDSourceNameDescription
226700 OMIMEpidermolysis bullosa, junctional, Herlitz type (H-JEB)An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. The disease is caused by variants affecting the gene represented in this entry.