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Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
LAMC2 (Laminin Subunit Gamma 2) is a Protein Coding gene. Diseases associated with LAMC2 include Epidermolysis Bullosa, Junctional, Herlitz Type and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are Collagen chain trimerization and ERK Signaling. Gene Ontology (GO) annotations related to this gene include heparin binding. An important paralog of this gene is LAMC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005201 | extracellular matrix structural constituent | RCA | 25037231 |
GO:0008201 | heparin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005604 | basement membrane | IBA | 21873635 |
GO:0005607 | laminin-2 complex | IEA | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005938 | cell cortex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
2 | MET promotes cell motility |
.45
|
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Collagen chain trimerization | ||
5 | Cell junction organization |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0008045 | motor neuron axon guidance | IBA | 21873635 |
GO:0008284 | positive regulation of cell proliferation | IMP | 24091622 |
GO:0008544 | epidermis development | TAS | 8012394 |
GO:0009887 | animal organ morphogenesis | IBA | 21873635 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: |
ExUns: | 24b |
---|---|
SP1: | |
SP2: | |
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LAMC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LAMC2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LAMC2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lamc2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lamc2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LAMC2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LAMC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LAMC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LAMC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lamc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC567928 30 |
|
||
LAMC2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | LanB2 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lam-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
836408 | Pathogenic: not provided | 183,220,829(+) |
C/T NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter) |
NONSENSE | |
838122 | Pathogenic: not provided | 183,232,780(+) |
C/T NM_005562.3(LAMC2):c.2143C>T (p.Arg715Ter) |
NONSENSE | |
841746 | Pathogenic: not provided | 183,228,616(+) |
C/T NM_005562.3(LAMC2):c.1711C>T (p.Arg571Ter) |
NONSENSE | |
844928 | Likely Pathogenic: not provided | 183,207,879(+) |
A/C NM_005562.3(LAMC2):c.80-2A>C |
SPLICE_ACCEPTOR | |
846375 | Pathogenic: not provided | 183,234,390(+) |
C/G NM_005562.3(LAMC2):c.2244C>G (p.Tyr748Ter) |
NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
epidermolysis bullosa, junctional, herlitz type |
|
|
epidermolysis bullosa, junctional, non-herlitz type |
|
|
junctional epidermolysis bullosa |
|
|
epidermolysis bullosa |
|
|
skin disease |
|
|