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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMC2 Gene

protein-coding GIFtS: 69
GCID: GC01P183155

laminin, gamma 2

(Previous names: laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM6...)
(Previous symbols: EBR2, LAMB2T, LAMNB2, EBR2A)

Explore 76 diseases affiliated with
LAMC2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Laminin, Gamma 2¹ ²		Nicein Subunit Gamma² ³
LAMB2T¹ ² ³ ⁵		CSF 140 KDa Subunit² ³
LAMNB2¹ ² ³ ⁵		Kalinin-105kDa¹
BM600-100kDa¹ ²		Laminin, Gamma 2 (Nicein (100kD), Kalinin (105kD), BM600 (100kD), Herlitz Junctional Epidermolysis Bullosa))¹
EBR2¹ ²		Nicein-100kDa¹
EBR2A¹ ²		B2T²
Cell-Scattering Factor 140 KDa Subunit² ³		BM600²
Epiligrin Subunit Gamma² ³		CSF²
Kalinin Subunit Gamma² ³		Laminin Subunit Gamma-2²
Ladsin 140 KDa Subunit² ³		Kalinin/Nicein/Epiligrin 100 KDa Subunit³
Laminin B2t Chain² ³		Laminin-5 Subunit Gamma³
Large Adhesive Scatter Factor 140 KDa Subunit² ³

External Ids:	HGNC: 6493¹	Entrez Gene: 3918²	Ensembl: ENSG00000058085⁷	OMIM: 150292⁵	UniProtKB: Q13753³

Export aliases for LAMC2 gene to outside databases

Previous GC identifers: GC01P180681 GC01P178583 GC01P179675 GC01P180394 GC01P179887 GC01P181422 GC01P154390

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LAMC2:

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)

UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753

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 Wiki entry for LAMC2 (Laminin, gamma 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LAMC2 gene promoter:
CREB AP-1 ATF-2 deltaCREB c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LAMC2 promoter sequence

Search SABiosciences Chromatin IP Primers for LAMC2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMC2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25-q31 Ensembl cytogenetic band: 1q25.3 HGNC cytogenetic band: 1q25-q31

LAMC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMC2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P183155: view genomic region (about GC identifiers)

Start:	183,155,174 bp from pter	End:	183,214,262 bp from pter
Size:	59,089 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753 (See protein sequence)

Recommended Name: Laminin subunit gamma-2 precursor

Size: 1193 amino acids; 130976 Da

Subunit: 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)

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

Miscellaneous: Binds heparin (By similarity)

Secondary accessions: Q02536 Q02537 Q13752 Q14941 Q14DF7 Q5VYE8

Alternative splicing: 2 isoforms: Q13753-1 Q13753-2

Explore the universe of human proteins at neXtProt for LAMC2: NX_Q13753

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13753

LAMC2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_005553.2 NP_061486.2

ENSEMBL proteins:

ENSP00000432063 ENSP00000264144

Reactome Protein details: Q13753
Human Recombinant Protein Products:

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	Uscn Proteins for LAMC2

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

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	--	--
GO:0005610	laminin-5 complex	IEA	--

LAMC2 for ontologies About GeneDecksing

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Assay Products for LAMC2:

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	Uscn ELISAs and CLIAs for LAMC2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LAMC2 for domains About GeneDecksing

4 InterPro domains/families:

IPR000034 Laminin_B_type_IV

IPR002049 EGF_laminin

IPR018031 Laminin_B_subgr

IPR009030 Growth_fac_rcpt

Graphical View of Domain Structure for InterPro Entry Q13753

ProtoNet protein and cluster: Q13753

1 Blocks protein family: IPB000034 Laminin B

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: Domain IV is globular

Similarity: Contains 8 laminin EGF-like domains

Similarity: Contains 1 laminin IV type A domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753

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 entry for LAMC2:

laminin ,gamma 2 polypeptide,component of cutaneous basement membrane zone,heterotrimerizing with laminin alpha 3 and

beta 3 in laminin 5 (kalinein/nicein)

miRNA Products:		miRTarBase miRNAs that target LAMC2: hsa-mir-199b-5p (MIRT002944)

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		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMC2 (see all 26):
		hsa-miR-193a-3p hsa-miR-539 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-1260b hsa-miR-431 hsa-miR-342-3p

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In Situ Assay
Products:

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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0008201	heparin binding	IEA	--

LAMC2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for LAMC2:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Lamc2^tm1Uit for LAMC2
12 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Lamc2):

behavior/neurological	craniofacial	digestive/alimentary	hearing/vestibular/ear	immune system
integument	limbs/digits/tail	mortality/aging	other	renal/urinary system
respiratory system	skeleton

LAMC2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Assembly of collagen fibrils and other multimeric structures	0.65

Cell adhesion_ECM remodeling

	Cell adhesion ECM remodeling	1.00			Metalloproteases in connective tissue degradation	0.31
	Cell adhesion_ECM remodeling	1.00

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for LAMC2

	Cell adhesion ECM remodeling
	Metalloproteases in connective tissue degradation

5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMC2 (see all 14)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	CDK5 Pathway
	Transendothelial Migration of Leukocytes

1 GeneGo (Thomson Reuters) Pathway for LAMC2

Cell adhesion ECM remodeling

3 BioSystems Pathways for LAMC2

	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway
	Inflammatory Response Pathway

5/9 Reactome Pathways for LAMC2 (see all 9)

	Integrin cell surface interactions
	Assembly of collagen fibrils and other multimeric structures
	Collagen formation
	Anchoring fibril formation
	Extracellular matrix organization

5/6 Kegg Pathways (Kegg details for LAMC2) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis
	Pathways in cancer

LAMC2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LAMC2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/45 Interacting proteins for LAMC2 (Q13753^{2, 3} ENSP00000264144⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 45)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDIA3	P30101²^,³	MINT-4301490 I2D: score=1
NID1	P14543³, ENSP00000264187⁴	I2D: score=2 STRING: ENSP00000264187
BMP1	P13497³, ENSP00000305714⁴	I2D: score=1 STRING: ENSP00000305714
LAMA3	Q16787³, ENSP00000324532⁴	I2D: score=1 STRING: ENSP00000324532
LAMA5	O15230³, ENSP00000252999⁴	I2D: score=1 STRING: ENSP00000252999

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	8012394
GO:0031581	hemidesmosome assembly	TAS	--
GO:0034329	cell junction assembly	TAS	--

LAMC2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LAMC2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMC2
3 Novoseek chemical compound relationships for LAMC2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	98.8	235	8377472 (12), 8138572 (10), 1365323 (6), 8306988 (5) (see all 66)
p1e1	86.3	2	1401088 (1), 7551559 (1)
gold	0	1	7967512 (1)

Search CenterWatch for drugs/clinical trials and news about LAMC2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LAMC2 gene (2 alternative transcripts):

NM_005562.2 NM_018891.2

Unigene Cluster for LAMC2:

Laminin, gamma 2

Hs.591484 [show with all ESTs]

Unigene Representative Sequence: NM_005562

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000493293(uc001gpz.4 uc010poa.2) ENST00000264144(uc001gqa.2)

ENST00000461729 ENST00000476255

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		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMC2 (see all 26):
		hsa-miR-193a-3p hsa-miR-539 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-1260b hsa-miR-431 hsa-miR-342-3p

		SwitchGear 3'UTR luciferase reporter plasmid: LAMC2 3' UTR sequence

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Additional cDNA sequence:

AK296944.1 AK307945.1 BC112286.1 BC113378.1 BC143653.1 X73902.1 Z15008.1 Z15009.1

11 DOTS entries:

DT.442299 DT.100790806 DT.97785584 DT.100790805 DT.121404826 DT.121404854 DT.92450675 DT.92450676

DT.92450679 DT.95193128 DT.99939412

24/259 AceView cDNA sequences (see all 259):

CB159737 AW261864 BM979594 BM764040 BQ014425 AI591171 AI626103 BG680971

BE049528 X73902 AI696993 AI566462 AW519011 AW026931 BM764333 BG319473

AI598056 BM981515 AI828274 BQ017577 BG370179 AW242192 BX479650 CA489001

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for LAMC2 About this scheme

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:

ECgene alternative splicing isoforms for LAMC2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LAMC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAACTTAGA

About this image

LAMC2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LAMC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMC2

SOURCE GeneReport for Unigene cluster: Hs.591484

UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753

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

SABiosciences Custom PCR Arrays for LAMC2

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for LAMC2 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LAMC2¹	laminin, gamma 2	64.2(n) 57.93(a)		408043 XM_422285.3 XP_422285.3
lizard (Anolis carolinensis)	Reptilia	LAMC2⁶	--	53(a)	1 ↔ 1	GL343203.1(4318997-4359462)
zebrafish (Danio rerio)	Actinopterygii	BX681417.1⁶	--	20(a)	1 ↔ 1	2(35714224-35742453)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LAMC2 gene

NTN4² LAMA1² NTN5² LAMA3² LAMA2² LAMB2² LAMC1² LAMA5²

NTN3² LAMB3² LAMC3² LAMA4² NTN1² NTNG1² USH2A² NTNG2²

LAMB1² LAMB4²

3 SIMAP similar genes for LAMC2 using alignment to 2 protein entries: LAMC2_HUMAN (see all proteins):

LAMC1 LAMA3 LAMB4

LAMC2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80356683^1,2	C	pathogenic	199790061(+)	`GTGCTC/TGATGT`	4	R *	stg¹		0	--	--	--	--
rs4652786^1,2	C,F,H,	--	154389515(+)	`CCTGGG/ACAGAG`	2	--	us2k¹		17		NS EA NA WA	2340
rs73047835^1,2	C,	--	154389526(+)	`TAGAAG/AAGAAT`	2	--	us2k¹		2		WA	120
rs117974647^1,2	C,F,	--	154389750(+)	`CTCCAT/CGACAT`	2	--	us2k¹		1		EA	120
rs59331446^1,2	C,	--	154389758(+)	`CATGCA/GTGAAC`	2	--	us2k¹		2		WA	120
rs3754523^1,2	C,H	--	154389791(-)	`CAGACA/GTAAGT`	2	--	us2k¹		4		NS EA	418
rs16828931^1,2	C,F,H,	--	154390245(+)	`AGCCAA/GTATTT`	2	--	us2k¹		7		NA NS EA	560
rs73047838^1,2	C,	--	154390259(+)	`AAGCAC/TCAACT`	2	--	us2k¹		2		WA	120
rs80304034^1,2	F,	--	154391889(+)	`GTTACT/GTTTCA`	2	--	int¹		1		WA	118
rs78638377^1,2	C,F,	--	154392483(+)	`GATAAG/ATATGT`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for LAMC2 (183155174 - 183214262 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for LAMC2
1 Indel: 11010
Human Gene Mutation Database (HGMD): LAMC2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LAMC2

DNA2.0 Custom Variant and Variant Library Synthesis for LAMC2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LAMC2 for disorders           About GeneDecksing

OMIM gene information: 150292
OMIM disorders: 226700  226650
UniProtKB/Swiss-Prot: LAMC2_HUMAN, Q13753

Defects in LAMC2 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]; also known

as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a group of blistering skin diseases

characterized by tissue separation which occurs within the dermo-epidermal basement membrane. H-JEB is a severe,

infantile and lethal form. Death occurs usually within the first six months of life. Occasionally, children survive to

teens. H-JEB is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be

hemorrhagic

20/76 diseases for LAMC2 (see all 76): About MalaCards

junctional epidermolysis bullosa epidermolysis bullosa epidermolysis bullosa inversa junctional epidermolysis bullosa inversa

epidermolysis bullosa acquisita skin disease spinal cord injury cryptogenic organizing pneumonia

lichen planus pseudotumor cerebri non-small cell lung carcinoma oral lichen planus

cicatricial pemphigoid ovarian mucinous neoplasm cervical intraepithelial neoplasia encephalitozoonosis

bullous pemphigoid squamous cell carcinoma idiopathic pulmonary fibrosis oral squamous cell carcinoma

3 diseases from the University of Copenhagen DISEASES database for LAMC2:

Epidermolysis bullosa Meningitis Neuroschistosomiasis

10/40 Novoseek disease relationships for LAMC2 gene (see all 40) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa junctional	96.3	46	11564184 (3), 8554379 (3), 8113417 (2), 8012394 (2) (see all 26)
lethal junctional epidermolysis bullosa	83.2	5	8377472 (2), 1401088 (1)
epidermolysis bullosa	82.6	7	11279058 (1), 8012393 (1), 8063286 (1), 7963683 (1) (see all 6)
pyloric atresia	76	2	7504435 (1)
pemphigoid cicatricial	64.8	5	15908306 (1), 7561156 (1), 7551559 (1)
pemphigoid bullous	64.8	7	7544906 (1), 8357788 (1), 8027584 (1), 8482332 (1) (see all 5)
carcinoma squamous cell	61.2	27	16343183 (4), 10357399 (3), 17786338 (2), 15363037 (2) (see all 19)
ehs tumor	61	1	7583007 (1)
epidermolysis bullosa acquisita	59.5	1	7544906 (1)
carcinoma	47.2	21	11860544 (3), 16232183 (2), 19047908 (1), 16152579 (1) (see all 16)

GeneTests: LAMC2

Junctional Epidermolysis Bullosa

Genetic Association Database (GAD): LAMC2
Human Genome Epidemiology (HuGE) Navigator: LAMC2 (1 document)

Export disorders for LAMC2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LAMC2 gene, integrated from 9 sources (see all 263):
(articles sorted by number of sources associating them with LAMC2)

Utopia: connect your pdf to the dynamic
world of online information

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. (PubMed id 1383240)^{1, 2, 3} Kallunki P.... Tryggvason K. (1992)
The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. (PubMed id 8306988)^{1, 2, 9} Vailly J.... Ortonne J.-P. (1994)
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. (PubMed id 15370542)^{1, 4, 9} Hayashi M....Allikmets R. (2004)
Structure of the human laminin gamma 2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts. (PubMed id 8786121)^{1, 2, 9} Airenne T.... Tryggvason K. (1996)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
A large cell-adhesive scatter factor secreted by human gastric carcinoma cells. (PubMed id 8265624)^{1, 2} Miyazaki K.... Umeda M. (1993)
Converging signals synergistically activate the LAMC2 promoter and lead to accumulation of the laminin gamma 2 chain in human colon carcinoma cells. (PubMed id 12519076)^{1, 9} Olsen J....Simon-Assmann P. (2003)
Overexpression of CDC25B and LAMC2 mRNA and protein in esophageal squamous cell carcinomas and premalignant lesions in subjects from a high-risk population in China. (PubMed id 18559558)^{1, 9} Shou J.Z....Taylor P.R. (2008)
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). (PubMed id 8012394)^{1, 9} Aberdam D....Ortonne J.P. (1994)
Laminin-5 gamma2 chain expression as a possible determinant of tumor aggressiveness in T1 colorectal carcinomas. (PubMed id 12643602)^{1, 9} Masaki T....Atomi Y. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3918	HGNC: 6493	AceView: LAMC2	Ensembl:ENSG00000058085	euGenes: HUgn3918
ECgene: LAMC2	Kegg: 3918	H-InvDB: LAMC2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LAMC2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LAMC2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMC2

Intellectual Property for LAMC2 gene
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Patent Information for LAMC2 gene:
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LAMC2 Gene

laminin, gamma 2

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LAMC2 (Gene Symbol)
Laminin, Gamma 2
LAMB2T
LAMNB2
BM600-100kDa
EBR2
EBR2A
Cell-Scattering Factor 140 KDa Subunit
Epiligrin Subunit Gamma
Kalinin Subunit Gamma
Ladsin 140 KDa Subunit
Laminin B2t Chain
Large Adhesive Scatter Factor 140 KDa Subunit
Nicein Subunit Gamma
CSF 140 KDa Subunit
Kalinin-105kDa
Laminin, Gamma 2 (Nicein (100kD), Kalinin (105kD), BM600 (100kD), Herlitz Junctional Epidermolysis Bullosa))
Nicein-100kDa
B2T
BM600
CSF
Laminin Subunit Gamma-2
Kalinin/Nicein/Epiligrin 100 KDa Subunit
Laminin-5 Subunit Gamma

Pemphigoid Bullous
Melanoma
Colon Cancer
Carcinoma Basal Cell
EHS Tumor
dysplasia
Cervix uteri
Pemphigoid Cicatricial
Colitis Ulcerative
Carcinoma
aggressiveness
COLON CARCINOMA
ADENOCARCINOMA LUNG
Skin Diseases
Adenocarcinoma
Junctional Epidermolysis Bullosa
metastatic melanoma
Cancer
premalignant
Colorectal Carcinoma
Cancer Lung
Periodontal Diseases
Carcinoma Non-Small Cell Lung
cervical adenocarcinoma
Lethal Junctional Epidermolysis Bullosa
Adenoma
Colorectal Cancer
Epidermolysis Bullosa Acquisita
Epidermolysis Bullosa
Epidermolysis Bullosa Junctional
PYLORIC ATRESIA
Carcinoma Squamous Cell
Cervical Cancer
prostate cancer
Tumors
Metastasis
Necrosis
mimicry
Sarcoma
Lichen Planus
FIBROSIS IDIOPATHIC PULMONARY

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LAMC2 Gene

laminin, gamma 2

Aliasesfor LAMC2 gene

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