LAMC2 Gene (Protein Coding)

Laminin Subunit Gamma 2

GC01P183186
GIFtS:
47
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,... See more...

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
  • Laminin Subunit Gamma-2 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
  • BM600-100kDa 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
  • Kalinin-105kDa 2
  • Nicein-100kDa 2
  • BM600 3
  • EBR2A 3
  • LAMC2 5
  • EBR2 3
  • B2T 3
  • CSF 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
  • GC01P183155
  • 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 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.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for LAMC2 Gene

Genomics for LAMC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LAMC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J183184 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 301.2 +0.9 879 5.4 FEZF1 ETS1 CTCF ELF1 SIN3A MLLT1 YY1 JUND ZFP37 MAZ LAMC2 DHX9 HMGN1P4 LAMC1-AS1 LAMC1 RF00017-419 NMNAT2
GH01J183158 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32.5 -23.4 -23447 8 ZNF217 DEK ELF1 CEBPB ELK1 MBD2 CUX1 MAX EP300 RAD21 LAMC2 LAMC1-AS1 LAMC1 lnc-NMNAT2-3 HSALNG0008962
GH01J183190 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 28.7 +9.7 9692 10.1 BCL11A CEBPB RAD51 SIN3A IRF4 SMARCA5 CBFB JUND BHLHE40 ZNF2 LAMC2 LAMC1 RF00017-419 NMNAT2
GH01J183217 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 20 +32.8 32828 3.1 ZNF843 PRDM6 SCRT1 ZNF664 LCORL ZNF133 ZNF398 NFIB ZFX ZNF140 LAMC2 DHX9 HMGN1P4 RNU6-41P RF00017-419 NMNAT2
GH01J183021 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -161.5 -161539 7 ZSCAN16 ZBTB10 MXD4 BCL11A FEZF1 DEK ZFP64 ZNF217 CTCF BRCA1 LAMC1 lnc-DHX9-4 LAMC1-AS1 DHX9 SMG7 HMGN1P4 RNU6-41P LAMC2 HSALNG0008956
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMC2

Top Transcription factor binding sites by QIAGEN in the LAMC2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for LAMC2 Gene

Latest Assembly
chr1:183,186,238-183,245,127
(GRCh38/hg38)
Size:
58,890 bases
Orientation:
Plus strand

Previous Assembly
chr1:183,155,399-183,214,262
(GRCh37/hg19 by Entrez Gene)
Size:
58,864 bases
Orientation:
Plus strand

chr1:183,155,373-183,214,035
(GRCh37/hg19 by Ensembl)
Size:
58,663 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 Structure • Gene Density

RefSeq DNA sequence for LAMC2 Gene

Proteins for LAMC2 Gene

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  • 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

Protein Expression for LAMC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LAMC2 Gene

  • Glycosylation at Asn342, Asn362, Thr762, Thr831, Thr886, Asn942, and Asn1033
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAMC2_HUMAN (1445)

Other Protein References for LAMC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for LAMC2
  • Boster Bio Antibodies for LAMC2

No data available for DME Specific Peptides for LAMC2 Gene

Domains & Families for LAMC2 Gene

Gene Families for LAMC2 Gene

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

Protein Domains for LAMC2 Gene

InterPro:
Blocks:
  • Laminin B
ProtoNet:

Suggested Antigen Peptide Sequences for LAMC2 Gene

GenScript: Design optimal peptide antigens:
  • Nicein subunit gamma (LAMC2_HUMAN)
  • Laminin, gamma 2 (Q2M1N2_HUMAN)

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.
genes like me logo Genes that share domains with LAMC2: view

Function for LAMC2 Gene

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  6. Cell Lines for research

Molecular function for LAMC2 Gene

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.
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)

Phenotypes From GWAS Catalog for LAMC2 Gene

Gene Ontology (GO) - Molecular Function for LAMC2 Gene

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 --
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:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMC2

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

COMPARTMENTS
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 3
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMC2 Gene

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 --
genes like me logo Genes that share ontologies with LAMC2: view

Pathways & Interactions for LAMC2 Gene

PathCards logo

SuperPathways for LAMC2 Gene

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
MET promotes cell motility
.45
Signaling by MET
.45
Laminin interactions
.40
Non-integrin membrane-ECM interactions
.37
Alpha 6 Beta 4 signaling pathway
.32
MET activates PTK2 signaling
.01
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
Collagen formation
.75
Assembly of collagen fibrils and other multimeric structures
.65
Anchoring fibril formation
.01
5 Cell junction organization
Cell junction organization
.70
Cell-Cell communication
.66
Type I hemidesmosome assembly
.01
genes like me logo Genes that share pathways with LAMC2: view

Pathways by source for LAMC2 Gene

1 GeneGo (Thomson Reuters) pathway for LAMC2 Gene
  • Cell adhesion_ECM remodeling
14 Qiagen pathways for LAMC2 Gene
  • CDK5 Pathway
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for LAMC2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LAMC2 Gene

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

Drugs & Compounds for LAMC2 Gene

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(1) Drugs for LAMC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) 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

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mRNA/cDNA for LAMC2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMC2

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

Expression for LAMC2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMC2 Gene

mRNA expression in normal human tissues for LAMC2 Gene
mRNA expression by BioGPS for LAMC2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for LAMC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMC2

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.

Evidence on tissue expression from TISSUES for LAMC2 Gene

  • Skin(4.7)
  • Nervous system(4.3)
  • Pancreas(3.1)
  • Lung(2.7)
  • Intestine(2.2)
  • Heart(2.1)
  • Lymph node(2.1)
  • Blood(2.1)

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

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

Primer products for research

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 30 31
  • 99.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LAMC2 30 31
  • 87.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LAMC2 30 31
  • 86.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lamc2 30
  • 85.24 (n)
Mouse
(Mus musculus)
 Mammalia Lamc2 30 17 31
  • 85.07 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia LAMC2 31
  • 70 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LAMC2 31
  • 64 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LAMC2 30 31
  • 64.05 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LAMC2 31
  • 52 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lamc2 30
  • 55.87 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC567928 30
  • 48.56 (n)
LAMC2 31
  • 34 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta LanB2 31
  • 22 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lam-2 31
  • 20 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 25 (a)
 OneToMany
Species where no ortholog for LAMC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LAMC2: view image

Paralogs for LAMC2 Gene

Paralogs for LAMC2 Gene

(3) SIMAP similar genes for LAMC2 Gene using alignment to 2 proteins:

  • LAMC2_HUMAN
  • Q2M1N2_HUMAN
genes like me logo Genes that share paralogs with LAMC2: view

Variants for LAMC2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMC2 Gene

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAMC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for LAMC2 Gene

Human Gene Mutation Database (HGMD)
LAMC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMC2

SNP Genotyping and Copy Number Assays for research

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

Disorders for LAMC2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for LAMC2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, herlitz type
  • epidermolysis bullosa junctionalis, herlitz type
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
epidermolysis bullosa
  • acantholysis bullosa
skin disease
  • genodermatosis
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for LAMC2

Genetic Association Database
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Publications for LAMC2 Gene

  1. 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 genetics 2004) 3 23 41
  2. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. (PMID: 11810295) Nakano A … Uitto J (Human genetics 2002) 3 4 23
  3. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. (PMID: 10951251) Takizawa Y … Uitto J (The Journal of investigative dermatology 2000) 3 23 74
  4. 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
  5. 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 23

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