Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LAMC2 Gene

Aliases for LAMC2 Gene

  • Laminin, Gamma 2 2 3
  • Large Adhesive Scatter Factor 140 KDa Subunit 3 4
  • Cell-Scattering Factor 140 KDa Subunit 3 4
  • Epiligrin Subunit Gamma 3 4
  • Ladsin 140 KDa Subunit 3 4
  • Kalinin Subunit Gamma 3 4
  • Nicein Subunit Gamma 3 4
  • CSF 140 KDa Subunit 3 4
  • Laminin B2t Chain 3 4
  • LAMB2T 3 4
  • LAMNB2 3 4
  • Laminin, Gamma 2 (Nicein (100kD), Kalinin (105kD), BM600 (100kD), Herlitz Junctional Epidermolysis Bullosa)) 2
  • Kalinin/Nicein/Epiligrin 100 KDa Subunit 4
  • Laminin Subunit Gamma-2 3
  • Laminin-5 Subunit Gamma 4
  • BM600-100kDa 3
  • Kalinin 6
  • BM600 3
  • EBR2A 3
  • 105kD 6
  • EBR2 3
  • CSF 3
  • B2T 3

External Ids for LAMC2 Gene

Previous HGNC Symbols for LAMC2 Gene

  • EBR2
  • LAMB2T
  • LAMNB2
  • EBR2A

Previous GeneCards Identifiers for LAMC2 Gene

  • GC01P180681
  • GC01P178583
  • GC01P179675
  • GC01P180394
  • GC01P179887
  • GC01P181422
  • GC01P154390

Summaries for LAMC2 Gene

Entrez Gene Summary for LAMC2 Gene

  • 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]

GeneCards Summary for LAMC2 Gene

LAMC2 (Laminin, Gamma 2) is a Protein Coding gene. Diseases associated with LAMC2 include junctional epidermolysis bullosa and junctional epidermolysis bullosa inversa. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include heparin binding. An important paralog of this gene is LAMA4.

UniProtKB/Swiss-Prot for LAMC2 Gene

  • Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells.

Gene Wiki entry for LAMC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMC2 Gene

Genomics for LAMC2 Gene

Regulatory Elements for LAMC2 Gene

Genomic Location for LAMC2 Gene

Start:
183,178,827 bp from pter
End:
183,258,333 bp from pter
Size:
79,507 bases
Orientation:
Plus strand

Genomic View for LAMC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMC2 Gene

Proteins for LAMC2 Gene

  • Protein details for LAMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13753-LAMC2_HUMAN
    Recommended name:
    Laminin subunit gamma-2
    Protein Accession:
    Q13753
    Secondary Accessions:
    • Q02536
    • Q02537
    • Q13752
    • Q14941
    • Q14DF7
    • Q2M1N2
    • Q5VYE8

    Protein attributes for LAMC2 Gene

    Size:
    1193 amino acids
    Molecular mass:
    130976 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Gamma-2 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein)
    Miscellaneous:
    • Binds heparin.

    Alternative splice isoforms for LAMC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMC2 Gene

Proteomics data for LAMC2 Gene at MOPED

Post-translational modifications for LAMC2 Gene

  • Glycosylation at Asn342, Asn362, Thr762, Thr831, Thr886, Asn942, and Asn1033
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMC2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LAMC2 Gene

Domains for LAMC2 Gene

Gene Families for LAMC2 Gene

HGNC:
  • LAM :Laminins

Protein Domains for LAMC2 Gene

Suggested Antigen Peptide Sequences for LAMC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13753

UniProtKB/Swiss-Prot:

LAMC2_HUMAN :
  • Q13753
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure
  • Domain IV is globular
  • Contains 8 laminin EGF-like domains.
  • Contains 1 laminin IV type A domain.
genes like me logo Genes that share domains with LAMC2: view

Function for LAMC2 Gene

Molecular function for LAMC2 Gene

GENATLAS Biochemistry: laminin ,gamma 2 polypeptide,component of cutaneous basement membrane zone,heterotrimerizing with laminin alpha 3 and beta 3 in laminin 5 (kalinein/nicein)
UniProtKB/Swiss-Prot Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells.

Gene Ontology (GO) - Molecular Function for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with LAMC2: view
genes like me logo Genes that share phenotypes with LAMC2: view

Animal Models for LAMC2 Gene

MGI Knock Outs for LAMC2:

Animal Model Products

miRNA for LAMC2 Gene

miRTarBase miRNAs that target LAMC2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAMC2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for LAMC2 Gene

Localization for LAMC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMC2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMC2 Gene COMPARTMENTS Subcellular localization image for LAMC2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane --
GO:0005607 laminin-2 complex IEA --
GO:0005610 laminin-5 complex IEA --
genes like me logo Genes that share ontologies with LAMC2: view

Pathways for LAMC2 Gene

genes like me logo Genes that share pathways with LAMC2: view

Gene Ontology (GO) - Biological Process for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0008544 epidermis development TAS 8012394
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0031581 hemidesmosome assembly TAS --
genes like me logo Genes that share ontologies with LAMC2: view

Compounds for LAMC2 Gene

(3) Novoseek inferred chemical compound relationships for LAMC2 Gene

Compound -log(P) Hits PubMed IDs
kalinin 98.8 133
p1e1 86.3 2
gold 0 1
genes like me logo Genes that share compounds with LAMC2: view

Transcripts for LAMC2 Gene

Unigene Clusters for LAMC2 Gene

Laminin, gamma 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAMC2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for LAMC2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMC2 Gene

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:

Relevant External Links for LAMC2 Gene

GeneLoc Exon Structure for
LAMC2
ECgene alternative splicing isoforms for
LAMC2

Expression for LAMC2 Gene

mRNA expression in normal human tissues for LAMC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAMC2 Gene

This gene is overexpressed in Minor Salivary Gland (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAMC2 Gene

SOURCE GeneReport for Unigene cluster for LAMC2 Gene Hs.591484

mRNA Expression by UniProt/SwissProt for LAMC2 Gene

Q13753-LAMC2_HUMAN
Tissue specificity: The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for distal tubuli
genes like me logo Genes that share expressions with LAMC2: view

In Situ Assay Products

Orthologs for LAMC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMC2 35
  • 99.44 (n)
  • 98.99 (a)
LAMC2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMC2 35
  • 87.65 (n)
  • 86.05 (a)
LAMC2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMC2 35
  • 86.58 (n)
  • 85.57 (a)
LAMC2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamc2 35
  • 85.07 (n)
  • 84.87 (a)
Lamc2 16
Lamc2 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMC2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMC2 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamc2 35
  • 85.24 (n)
  • 84.96 (a)
chicken
(Gallus gallus)
Aves LAMC2 35
  • 64.05 (n)
  • 57.86 (a)
LAMC2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMC2 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamc2 35
  • 55.87 (n)
  • 47.51 (a)
zebrafish
(Danio rerio)
Actinopterygii LAMC2 36
  • 34 (a)
OneToOne
LOC567928 35
  • 48.56 (n)
  • 35.6 (a)
fruit fly
(Drosophila melanogaster)
Insecta LanB2 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-2 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for LAMC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMC2 Gene

ENSEMBL:
Gene Tree for LAMC2 (if available)
TreeFam:
Gene Tree for LAMC2 (if available)

Paralogs for LAMC2 Gene

Paralogs for LAMC2 Gene

Selected SIMAP similar genes for LAMC2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LAMC2: view

Variants for LAMC2 Gene

Sequence variations from dbSNP and Humsavar for LAMC2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs472193 -- 183,242,499(-) TAAAA(C/T)TAATG intron-variant
rs473789 -- 183,199,897(-) TCCAA(A/T)GCACA intron-variant
rs479994 -- 183,192,594(+) TTCAT(C/T)CTTTT intron-variant
rs480132 -- 183,192,644(+) GACCA(A/G)GGCCA intron-variant
rs481023 -- 183,192,734(+) GTCTT(G/T)TTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LAMC2 Gene

Variant ID Type Subtype PubMed ID
esv33688 CNV Loss 17666407

Relevant External Links for LAMC2 Gene

HapMap Linkage Disequilibrium report
LAMC2
Human Gene Mutation Database (HGMD)
LAMC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMC2 Gene

Disorders for LAMC2 Gene

(2) OMIM Diseases for LAMC2 Gene (150292)

UniProtKB/Swiss-Prot

LAMC2_HUMAN
  • Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for LAMC2 Gene

(40) Novoseek inferred disease relationships for LAMC2 Gene

Disease -log(P) Hits PubMed IDs
epidermolysis bullosa junctional 96.3 35
lethal junctional epidermolysis bullosa 83.2 3
epidermolysis bullosa 82.6 6
pyloric atresia 76 1
pemphigoid cicatricial 64.8 3

Relevant External Links for LAMC2

GeneTests
LAMC2
GeneReviews
LAMC2
Genetic Association Database (GAD)
LAMC2
Human Genome Epidemiology (HuGE) Navigator
LAMC2
genes like me logo Genes that share disorders with LAMC2: view

Publications for LAMC2 Gene

  1. The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. (PMID: 8306988) Vailly J. … Ortonne J.-P. (Eur. J. Biochem. 1994) 3 4 23
  2. Structure of the human laminin gamma 2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts. (PMID: 8786121) Airenne T. … Tryggvason K. (Genomics 1996) 3 4 23
  3. A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. (PMID: 1383240) Kallunki P. … Tryggvason K. (J. Cell Biol. 1992) 2 3 4
  4. Uncoupled responses of Smad4-deficient cancer cells to TNFalpha result in secretion of monomeric laminin-gamma2. (PMID: 20307265) Zboralski D. … Schwarte-Waldhoff I. (Mol. Cancer 2010) 3 23
  5. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PMID: 15370542) Hayashi M. … Allikmets R. (Ophthalmic Genet. 2004) 3 48

Products for LAMC2 Gene

Sources for LAMC2 Gene

Back to Top

Content