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Aliases for LAMC2 Gene

Aliases for LAMC2 Gene

  • Laminin Subunit Gamma 2 2 3 5
  • 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
  • Laminin, Gamma 2 2 3
  • 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
  • BM600 3
  • EBR2A 3
  • 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 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 Focal Adhesion and Phospholipase-C Pathway. GO annotations related to this gene include heparin binding. An important paralog of this gene is LAMC1.

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

Additional gene information for LAMC2 Gene

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

Genomics for LAMC2 Gene

Regulatory Elements for LAMC2 Gene

Enhancers for LAMC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H183158 1.8 FANTOM5 Ensembl ENCODE dbSUPER 32.4 -23.2 -23204 7.9 TBP PKNOX1 NFIB SIN3A RAD21 RFX5 ELK1 RCOR1 FOS DEK LAMC2 LAMC1-AS1 LAMC1
GH01H183233 1.3 Ensembl ENCODE 27.6 +49.5 49459 3.1 HDGF FEZF1 ZNF2 GTF3C2 ZNF121 ZNF766 GLIS2 ZNF143 FOS REST LAMC2 HMGN1P4 DHX9 LOC100271717 SHCBP1L SMG7 RNU6-41P RPS3AP8
GH01H183194 1.3 Ensembl ENCODE dbSUPER 25.5 +11.2 11198 6 PKNOX1 ZSCAN4 RFX5 ZNF366 SCRT2 ATF7 ETV6 RUNX3 IKZF2 EGR2 LAMC2 LAMC1 RPS3AP8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAMC2 on UCSC Golden Path with GeneCards custom track

Promoters for LAMC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for LAMC2 Gene

Genomic Locations for LAMC2 Gene
59,089 bases
Plus strand

Genomic View for LAMC2 Gene

Genes around LAMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Laminin subunit gamma-2
    Protein Accession:
    Secondary Accessions:
    • Q02536
    • Q02537
    • Q13752
    • Q14941
    • Q14DF7
    • Q2M1N2
    • Q5VYE8

    Protein attributes for LAMC2 Gene

    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).
    • Binds heparin.

    Alternative splice isoforms for LAMC2 Gene


neXtProt entry for LAMC2 Gene

Post-translational modifications for LAMC2 Gene

  • Glycosylation at posLast=342342, isoforms=2362, isoforms=2762, posLast=831831, isoforms=2886, posLast=942942, and isoforms=21033
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMC2 Gene

No data available for DME Specific Peptides for LAMC2 Gene

Domains & Families for LAMC2 Gene

Gene Families for LAMC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

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



  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
  • 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.
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.

Phenotypes From GWAS Catalog for LAMC2 Gene

Gene Ontology (GO) - Molecular Function for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Human Phenotype Ontology for LAMC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMC2 Gene

MGI Knock Outs for LAMC2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMC2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
GO:0005604 basement membrane IEA --
GO:0005607 laminin-2 complex IEA --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with LAMC2: view

Pathways & Interactions for LAMC2 Gene

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

SIGNOR curated interactions for LAMC2 Gene


Gene Ontology (GO) - Biological Process for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0008284 positive regulation of cell proliferation IMP 24091622
GO:0008544 epidermis development TAS 8012394
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with LAMC2: view

Drugs & Compounds for LAMC2 Gene

(3) Additional Compounds for LAMC2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone 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: -

ExUns: 24b

Relevant External Links for LAMC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LAMC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.3).

Protein differential expression in normal tissues from HIPED for LAMC2 Gene

This gene is overexpressed in Islet of Langerhans (27.5), Lung (10.2), Prostate (7.3), Urine (6.7), and Monocytes (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAMC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of LAMC2 Gene:


SOURCE GeneReport for Unigene cluster for LAMC2 Gene:


mRNA Expression by UniProt/SwissProt for LAMC2 Gene:

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.

Evidence on tissue expression from TISSUES for LAMC2 Gene

  • Skin(4.7)
  • Nervous system(4)
  • Lung(2.5)
  • Pancreas(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Head and neck:
  • brain
  • epiglottis
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • vocal cord
  • trachea
  • stomach
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with LAMC2: view

No data available for Protein tissue co-expression partners for LAMC2 Gene

Orthologs for LAMC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LAMC2 33 34
  • 99.44 (n)
(Bos Taurus)
Mammalia LAMC2 33 34
  • 87.65 (n)
(Canis familiaris)
Mammalia LAMC2 33 34
  • 86.58 (n)
(Rattus norvegicus)
Mammalia Lamc2 33
  • 85.24 (n)
(Mus musculus)
Mammalia Lamc2 33 16 34
  • 85.07 (n)
(Monodelphis domestica)
Mammalia LAMC2 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia LAMC2 34
  • 64 (a)
(Gallus gallus)
Aves LAMC2 33 34
  • 64.05 (n)
(Anolis carolinensis)
Reptilia LAMC2 34
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lamc2 33
  • 55.87 (n)
(Danio rerio)
Actinopterygii LOC567928 33
  • 48.56 (n)
LAMC2 34
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta LanB2 34
  • 22 (a)
(Caenorhabditis elegans)
Secernentea lam-2 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
Species where no ortholog for LAMC2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for LAMC2 (if available)
Gene Tree for LAMC2 (if available)

Paralogs for LAMC2 Gene

Paralogs for LAMC2 Gene

(3) 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
rs118203900 Pathogenic 183,228,564(+) CAGTG(A/C)AAAGC reference, stop-gained
rs118203901 Pathogenic 183,222,181(+) CCCAA(C/T)GACTA reference, stop-gained
rs80356683 Pathogenic 183,215,467(+) GTGCT(C/T)GATGT reference, stop-gained
rs1057516218 Likely pathogenic 183,223,248(+) GTGCT(-/GG)TCTAC reference, frameshift-variant
rs1057516383 Likely pathogenic 183,235,663(+) AGGCC(-/CTGC)ATGAA reference, utr-variant-3-prime, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv946537 CNV duplication 23825009
nsv548375 CNV gain 21841781
esv33688 CNV loss 17666407

Variation tolerance for LAMC2 Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.10; 84.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMC2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for LAMC2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for LAMC2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, herlitz type
  • junctional epidermolysis bullosa herlitz type
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa, junctional, localisata variant
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
lamc2-related junctional epidermolysis bullosa
  • lamc2-related junctional epidermolysis bullosa herlitz and non-herlitz
skin disease
  • genodermatosis
- elite association - COSMIC cancer census association via MalaCards
Search LAMC2 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:11810295, ECO:0000269 PubMed:8012393}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMC2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LAMC2: view

No data available for Genatlas for LAMC2 Gene

Publications for LAMC2 Gene

  1. 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 22 60
  2. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. (PMID: 8012393) Pulkkinen L … Uitto J (Nature genetics 1994) 3 4 22 60
  3. The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. (PMID: 8306988) Vailly J … Ortonne JP (European journal of biochemistry 1994) 3 4 22 60
  4. A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. (PMID: 1383240) Kallunki P … Tryggvason K (The Journal of cell biology 1992) 2 3 4 60
  5. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 45 60

Products for LAMC2 Gene

Sources for LAMC2 Gene

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