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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-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 Degradation of the extracellular matrix and ERK Signaling. 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

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

ENSRs around LAMC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAMC2 Gene

Chromosome:
1
Start:
183,186,039 bp from pter
End:
183,245,127 bp from pter
Size:
59,089 bases
Orientation:
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:
    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 Asn 342, Asn 362, Thr 762, Thr 831, Thr 886, Asn 942, and Asn 1033
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LAMC2 Gene

Domains & Families for LAMC2 Gene

Gene Families for LAMC2 Gene

Protein Domains for LAMC2 Gene

InterPro:
Blocks:
ProtoNet:

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

Gene Ontology (GO) - Cellular Components for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005938 cell cortex IEA --
GO:0048471 perinuclear region of cytoplasm 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

Activates:

Gene Ontology (GO) - Biological Process for LAMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 8012394
GO:0022617 extracellular matrix disassembly TAS --
GO:0031581 hemidesmosome assembly 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:

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 (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, 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 expression patterns with LAMC2: view

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia LAMC2 35
  • 99.44 (n)
  • 98.99 (a)
LAMC2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMC2 36
  • 86 (a)
OneToOne
LAMC2 35
  • 87.65 (n)
  • 86.05 (a)
dog
(Canis familiaris)
Mammalia LAMC2 35
  • 86.58 (n)
  • 85.57 (a)
LAMC2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamc2 16
Lamc2 35
  • 85.07 (n)
  • 84.87 (a)
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

(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
rs2296303 - 183,232,835(+) AGAAA(C/G)TGAAG reference, missense
rs2296306 - 183,222,189(-) ACAGG(G/T)TCTAG reference, missense
rs12065473 - 183,215,515(+) CAGGA(C/G/T)CCAGA reference, missense
rs17481405 - 183,215,528(+) CGACC(A/G)ATGTC reference, missense
rs11586699 - 183,215,555(+) GCTCA(C/T)GGATG reference, missense

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

Variant ID Type Subtype PubMed ID
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

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

MalaCards: The human disease database

(15) MalaCards diseases for LAMC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, 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
generalized junctional epidermolysis bullosa, non-herlitz type
  • gabeb
lamc2-related junctional epidermolysis bullosa
  • lamc2-related junctional epidermolysis bullosa herlitz and non-herlitz
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
- elite association - COSMIC cancer census association via MalaCards
Search LAMC2 in MalaCards View complete list of genes associated with diseases

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

No data available for Genatlas for LAMC2 Gene

Publications for LAMC2 Gene

  1. 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 67
  2. 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
  3. Profiling bladder cancer organ site-specific metastasis identifies LAMC2 as a novel biomarker of hematogenous dissemination. (PMID: 19147813) Smith S.C. … Theodorescu D. (Am. J. Pathol. 2009) 3 23
  4. Overexpression of malignancy-associated laminins and laminin receptors by angiotropic human melanoma cells in a chick chorioallantoic membrane model. (PMID: 19469865) Lugassy C. … Barnhill R.L. (J. Cutan. Pathol. 2009) 3 23
  5. Laminin gamma2 mediates Wnt5a-induced invasion of gastric cancer cells. (PMID: 19582886) Yamamoto H. … Kikuchi A. (Gastroenterology 2009) 3 23

Products for LAMC2 Gene

Sources for LAMC2 Gene

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