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LAMC2 Gene

protein-coding GIFtS: 68

GC01P181422

laminin, gamma 2
(Previous names: laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa)) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: EBR2, LAMB2T, LAMNB2, EBR2A)

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

Aliases
B2T ^²
BM600 ^²
BM600-100kDa ^¹, ²
CSF ^²
EBR2 ^²
EBR2A ^²
LAMB2T ^², ³, ⁵
LAMNB2 ^², ³, ⁵
MGC138491 ^²
MGC141938 ^²
OTTHUMP00000033550 ^²
epiligrin ^²
kalinin-105kDa ^¹, ²
nicein-100kDa ^¹, ²

Descriptions
CSF 140 kDa subunit ^³
Cell-scattering factor 140 kDa subunit ^³
Kalinin/nicein/epiligrin 100 kDa subunit ^³
Ladsin 140 kDa subunit ^³
Laminin 5 gamma 2 subunit ^³
Laminin B2t chain ^³
Large adhesive scatter factor 140 kDa subunit ^³
cell-scattering factor (140kDa) ^²
kalinin (105kD) ^²
ladsin (140kDa) ^²
laminin, gamma 2 ^²
laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa)) ^¹, ²
nicein (100kDa) ^²

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

Search outside databases for aliases for LAMC2 gene

Previous GC identifers: GC01P180681 GC01P178583 GC01P179675 GC01P180394 GC01P179887

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

EntrezGene 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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1,

and B2, respectively) and they form 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]

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%2C_gamma_2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the LAMC2 gene

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)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P181422: (about GC identifiers)

Start:	181,421,797 bp from pter
End:	181,480,885 bp from pter
Size:	59,089 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_004487.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 (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 Q5VYE8

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_005553.2 NP_061486.2

ENSEMBL proteins:

ENSP00000264144 ENSP00000384864

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (LAMC2, Laminin, Kalinin, Laminin 1+2)
	Human Recombinant Proteins from Abnova (LAMC2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005604	basement membrane	IEA	--

About this table

Antibodies for LAMC2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of LAMC2
	Sigma-Aldrich Antibodies for LAMC2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (LAMC2, Laminin, Kalinin, Laminin 1+2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (LAMC2)
	Novus Biologicals Antibodies for LAMC2

Assays for LAMC2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LAMC2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_005562

Applied Biosystems Silencer® siRNAs for LAMC2

Sigma-Aldrich siRNA and siRNA Panels for LAMC2

Sigma-Aldrich shRNA Panels and shRNA for LAMC2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_005562
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_005562
untagged cDNA clones in CMV expression vector (see all 2): NM_005562

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005562

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)

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lamc2):

behavior/neurological

2 Gene Ontology (GO) molecular function terms (links to tree view):

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

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

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

5/121 Interacting proteins for LAMC2 (ENSP00000264144³ Q13753²) via UniProtKB, MINT, and/or STRING (see all 121 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDIA3	P30101²	MINT-4301490
COL17A1	ENSP00000340937³	STRING (score=.989)
ITGB4	ENSP00000200181³	STRING (score=.988)
ITGA6	ENSP00000264106³	STRING (score=.977)
LAMB3	ENSP00000348384³	STRING (score=.976)

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	8012394

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for LAMC2
2 Novoseek chemical compound relationships for LAMC2 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	98.89	235	8377472 (12), 8138572 (10), 1365323 (6), 8306988 (5) (see all 66)
gold	0.00	1	7967512 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LAMC2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_005562

Sigma-Aldrich siRNA and siRNA Panels for LAMC2

Sigma-Aldrich shRNA Panels and shRNA for LAMC2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005562 NM_018891

REFSEQ mRNAs for LAMC2 gene (2 alternative transcripts):

NM_005562.2 NM_018891.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005562 NM_018891

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_005562
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_005562
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_005562

Additional cDNA sequence:

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

12 DOTS entries:

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

DT.92450679 DT.95193128 DT.121404850 DT.99939412

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

BM972608 BU674091 T10988 BQ949998 AW197915 BG319519 BM764040 AW261864

BG680971 X73902 BE049528 AI696993 BM971459 BX284013 BM761321 BM849299

AI248168 BQ686460 AW519011 BM819086 CA489001 BM981515 BM764333 AI626103

highest scoring ESTs for LAMC2:

Z15008 AA047309 AA295636 AA568288 AA634744 AI078208 AI192763 AI201529 AI248168 AI261468

Unigene Cluster for LAMC2:

Laminin, gamma 2

Hs.591484 [show with all ESTs]

Unigene Representative Sequence: NM_005562

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for LAMC2

2 Ensembl transcripts including schematic representations:

ENST00000264144 ENST00000404521

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

LAMC2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for LAMC2

¹ / ² / ³

7 probe-sets matching LAMC2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
35280_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.91	Z15008	1.00	1.00	1.00	1
35281_at²^{, 3}	U95-A	1	1.00	1.00	0.31	0.40	U31201	0.20	1.00	0.72	1
86529_at²^{, 3}	U95-E	1	0.50	1.00	0.95	1.21	AI801197	0.80	1.00	0.91	1
207517_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_018891	0.60	1.00	0.82	1
202267_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005562	0.60	1.00	0.82	1
207517_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202267_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCAACTTAGA

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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for LAMC2 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LAMC2¹	--	laminin, gamma 2	86.61(n) 85.74(a)	442939 NM_001003351.1 NP_001003351.1
chimpanzee (Pan troglodytes)	LAMC2¹	--	laminin, gamma 2	99.44(n) 98.99(a)	457571 XM_001162731.1 XP_001162731.1
cow (Bos taurus)	LAMC2¹	--	laminin, gamma 2	87.61(n) 86.12(a)	511043 XM_588297.3 XP_588297.3
rat (Rattus norvegicus)	Lamc2¹	--	laminin, gamma 2	85.24(n) 84.96(a)	192362 XM_213902.4 XP_213902.4
mouse (Mus musculus)	Lamc2^{1, 5}	1 (81.10 cM)⁵	laminin, gamma 2^{1, 5}	85.04(n)¹ 84.87(a)¹	16782¹ NM_008485.3¹ NP_032511.3¹ AA589349⁵ AF106279⁵ (see all 16)

About this table Species with no ortholog for LAMC2

ENSEMBL Gene Tree for LAMC2

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

Paralogs for LAMC2 gene

NTN1² NTN3² NTN5²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/453 NCBI SNPs in LAMC2 are shown (see all 453 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 214)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2276543^1,2	A,C,F,H,O	181421928(-)	`CTCACC/TTGTGA`	2	--	ut5¹ tfbs³		15	EA NA EU WA	2734
	rs684527^1,2	A,C,F,H	181422105(+)	`CCGGCC/ACCGCC`	2	--	ut5¹		7	EU EA WA NA	544
	rs587387^1,2	A,C,F,H	181479904(-)	`CCCAAC/AATTTG`	1	--	ut3¹		15	EU EA WA NA	1398
	rs3768593^1,2	A,C,F,H	181479171(-)	`GAAATA/CTTTAT`	1	--	ut3¹		17	EA NS NA EU WA	2584
	rs10797863^1,2	A,C,F,H	181480033(+)	`GATGCG/TCATCA`	1	--	ut3¹ ese³		7	NA EU EA WA	544
	rs2276542^1,2	C,F,H,O	181422022(-)	`CGCTGC/TGCCTT`	2	--	ut5¹		13	EA EU WA NA	1802
	rs3754524^1,2	A,C,F,H	181419890(-)	`gtactA/Gttaat`	2	--	ng5¹		8	EU EA WA	834
	rs630468^1,2	C,F,H,O	181477191(-)	`TTCCAC/TGCTGT`	2	--	int¹ ng3¹		7	EU EA WA NA	556
	rs599630^1,2	C,F,H,O	181479468(+)	`TAGTCG/ATAAGT`	1	--	ut3¹ ese³		17	EA NS EU WA NA	1112
	rs12037099^1,2	C,F,H	181454150(+)	`CAGAGA/TCTCCA`	2	D/V	mis¹ ese³		8	EU EA WA	838

About this table

HapMap Linkage Disequilibrium images for LAMC2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 150292 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

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa junctional	96.37	46	11564184 (3), 8554379 (3), 8113417 (2), 8012394 (2) (see all 26)
lethal junctional epidermolysis bullosa	83.74	5	8377472 (2), 1401088 (1)
epidermolysis bullosa	83.72	7	11279058 (1), 8012393 (1), 8063286 (1), 7963683 (1) (see all 6)
pyloric atresia	77.00	2	7504435 (1)
pemphigoid bullous	66.05	7	7544906 (1), 8357788 (1), 8027584 (1), 8482332 (1) (see all 5)
pemphigoid cicatricial	65.39	5	15908306 (1), 7561156 (1), 7551559 (1)
carcinoma squamous cell	62.05	27	16343183 (4), 10357399 (3), 17786338 (2), 15363037 (2) (see all 19)
ehs tumor	61.52	1	7583007 (1)
epidermolysis bullosa acquisita	61.02	1	7544906 (1)
skin diseases	48.18	8	7706760 (1), 8618058 (1), 9759651 (1), 8618020 (1) (see all 7)

About this table

GeneTests: LAMC2

Junctional Epidermolysis Bullosa

Human Gene Mutation Database: LAMC2
Genetic Association Database: LAMC2
Human Genome Epidemiology Navigator: LAMC2 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/231 PubMed articles for LAMC2 gene (see all 231 ):

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. (PubMed id 1383240)^{2, 3, 4} Kallunki P.... Tryggvason K. (1992)
The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. (PubMed id 8306988)^{1, 3, 4} 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, 3, 6} 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, 3, 4} Airenne T.... Tryggvason K. (1996)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{3, 4} Gregory S.G.... Bentley D.R. (2006)
A large cell-adhesive scatter factor secreted by human gastric carcinoma cells. (PubMed id 8265624)^{3, 4} 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, 3} 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, 3} 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, 3} 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, 3} Masaki T....Atomi Y. (2003)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3918	HGNC: 6493	AceView: LAMC2	Ensembl:ENSG00000058085	euGenes: HUgn3918
ECgene: LAMC2	H-InvDB: LAMC2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for LAMC2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=LAMC2

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for LAMC2:

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LAMC2 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for LAMC2

Summaries
for LAMC2

Genomic Location
for LAMC2

Proteins
for LAMC2

Protein Domains/
Families
for LAMC2

Gene Function
for LAMC2

Pathways & Interactions
for LAMC2

Drugs & Compounds
for LAMC2

Transcripts
for LAMC2

Expression
for LAMC2

Orthologs
for LAMC2

Paralogs
for LAMC2

SNPs/Variants
for LAMC2

Disorders & Mutations
for LAMC2

Medical News
for LAMC2

Publications
for LAMC2

Search for LAMC2

Genome Databases showing LAMC2

Other Databases showing LAMC2

Specialized Databases showing LAMC2

Licensable Technologies
for LAMC2

Services
for LAMC2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

LAMC2 (Gene Symbol)
B2T
BM600
BM600-100kDa
CSF
EBR2
EBR2A
LAMB2T
LAMNB2
MGC138491
MGC141938
OTTHUMP00000033550
epiligrin
kalinin-105kDa
nicein-100kDa
CSF 140 kDa subunit
Cell-scattering factor 140 kDa subunit
Kalinin/nicein/epiligrin 100 kDa subunit
Ladsin 140 kDa subunit
Laminin 5 gamma 2 subunit
Laminin B2t chain
Large adhesive scatter factor 140 kDa subunit
cell-scattering factor (140kDa)
kalinin (105kD)
ladsin (140kDa)
laminin, gamma 2
laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))
nicein (100kDa)

LAMC2 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor LAMC2

Summariesfor LAMC2

Genomic Locationfor LAMC2

Proteinsfor LAMC2

Protein Domains/Familiesfor LAMC2

Gene Functionfor LAMC2

Pathways & Interactionsfor LAMC2

Drugs & Compoundsfor LAMC2

Transcriptsfor LAMC2

Expression for LAMC2

Orthologsfor LAMC2

Paralogsfor LAMC2

SNPs/Variantsfor LAMC2

Disorders & Mutationsfor LAMC2

Medical Newsfor LAMC2

Publicationsfor LAMC2

Search for LAMC2

Genome Databases showing LAMC2

Other Databases showing LAMC2

Specialized Databases showing LAMC2

Licensable Technologiesfor LAMC2

Servicesfor LAMC2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for LAMC2

Summaries
for LAMC2

Genomic Location
for LAMC2

Proteins
for LAMC2

Protein Domains/
Families
for LAMC2

Gene Function
for LAMC2

Pathways & Interactions
for LAMC2

Drugs & Compounds
for LAMC2

Transcripts
for LAMC2

Expression
for LAMC2

Orthologs
for LAMC2

Paralogs
for LAMC2

SNPs/Variants
for LAMC2

Disorders & Mutations
for LAMC2

Medical News
for LAMC2

Publications
for LAMC2

Licensable Technologies
for LAMC2

Services
for LAMC2