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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMB3 Gene

protein-coding GIFtS: 68
GCID: GC01M209788

laminin, beta 3

(Previous names: laminin, beta 3 (nicein (125kD), kalinin (140kD), BM60...)
(Previous symbol: LAMNB1)

Explore 30 diseases affiliated with
LAMB3 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, Beta 3¹ ²		Laminin B1k Chain² ³
LAMNB1¹ ² ³		Laminin-5 Subunit Beta² ³
Kalinin-140kDa¹		Nicein Subunit Beta² ³
Laminin, Beta 3 (Nicein (125kD), Kalinin (140kD), BM600 (125kD))¹ ²		BM600-125kDa¹
Nicein-125kDa¹		BM600-125KDA²
Epiligrin Subunit Bata² ³		LAM5²
Kalinin B1 Chain² ³		Laminin S B3 Chain²
Kalinin Subunit Beta² ³		Laminin Subunit Beta-3²

External Ids:	HGNC: 6490¹	Entrez Gene: 3914²	Ensembl: ENSG00000196878⁷	OMIM: 150310⁵	UniProtKB: Q13751³

Export aliases for LAMB3 gene to outside databases

Previous GC identifers: GC01M208427 GC01M205494 GC01M206427 GC01M206867 GC01M206176 GC01M207854 GC01M180463

(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 LAMB3:

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a

beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause

epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that

are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same

protein have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751

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

Gene Wiki entry for LAMB3 (Laminin, beta 3)

(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_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LAMB3 gene promoter:
TBP STAT3 Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LAMB3 promoter sequence

Search SABiosciences Chromatin IP Primers for LAMB3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMB3

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

Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32

LAMB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMB3 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M209788: view genomic region (about GC identifiers)

Start:	209,788,215 bp from pter	End:	209,825,820 bp from pter
Size:	37,606 bases	Orientation:	minus 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: LAMB3_HUMAN, Q13751 (See protein sequence)

Recommended Name: Laminin subunit beta-3 precursor

Size: 1172 amino acids; 129572 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. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with

ECM1

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane

Secondary accessions: D3DT88 O14947 Q14733 Q9UJK4 Q9UJL1

Explore the universe of human proteins at neXtProt for LAMB3: NX_Q13751

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13751

LAMB3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000219.2 NP_001017402.1 NP_001121113.1

ENSEMBL proteins:

ENSP00000348384 ENSP00000355997 ENSP00000398683 ENSP00000388960 ENSP00000375778

Reactome Protein details: Q13751
Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005604	basement membrane	--	--
GO:0005610	laminin-5 complex	IEA	--

LAMB3 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

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

LAMB3 for domains About GeneDecksing

3 InterPro domains/families:

IPR008211 Laminin_N

IPR002049 EGF_laminin

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry Q13751

ProtoNet protein and cluster: Q13751

1 Blocks protein family: IPB002049 Laminin-type EGF-like domain

UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751

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

structure

Domain: Domain VI is globular

Similarity: Contains 6 laminin EGF-like domains

Similarity: Contains 1 laminin N-terminal 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: LAMB3_HUMAN, Q13751

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

Genatlas biochemistry entry for LAMB3:

laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membrane zone,expressed in stratifying

squamous epithelium

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	NAS	7550320
GO:0005515	protein binding	IPI	19275936
GO:0032403	protein complex binding	--	--

LAMB3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for LAMB3:

Cell cycle / mitosis defect

Animal Models:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lamb3):

craniofacial

digestive/alimentary

integument

mortality/aging

respiratory system

LAMB3 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 - 5/17 super-pathways (see all 17) 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 LAMB3

	Cell adhesion ECM remodeling
	Metalloproteases in connective tissue degradation

5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMB3 (see all 14)

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

1 GeneGo (Thomson Reuters) Pathway for LAMB3

Cell adhesion ECM remodeling

2 BioSystems Pathways for LAMB3

	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway

5/9 Reactome Pathways for LAMB3 (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 LAMB3) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis
	Pathways in cancer

LAMB3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for LAMB3

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

5/44 Interacting proteins for LAMB3 (Q13751^{2, 3} ENSP00000348384⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDIA3	P30101²^,³	MINT-4301478 I2D: score=1
LAMA3	Q16787³, ENSP00000324532⁴	I2D: score=2 STRING: ENSP00000324532
BMP1	P13497³, ENSP00000305714⁴	I2D: score=1 STRING: ENSP00000305714
LAMC2	Q13753³, ENSP00000264144⁴	I2D: score=1 STRING: ENSP00000264144
COL7A1	Q02388³, ENSP00000332371⁴	I2D: score=2 STRING: ENSP00000332371

About this table

Gene Ontology (GO): 5 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	7774918
GO:0031581	hemidesmosome assembly	TAS	--
GO:0034329	cell junction assembly	TAS	--
GO:0050873	brown fat cell differentiation	IEA	--

LAMB3 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

LAMB3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMB3
1 Novoseek chemical compound relationship for LAMB3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	85.4	2	7833047 (1), 7635220 (1)

Search CenterWatch for drugs/clinical trials and news about LAMB3

(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 LAMB3 gene (3 alternative transcripts):

NM_000228.2 NM_001017402.1 NM_001127641.1

Unigene Cluster for LAMB3:

Laminin, beta 3

Hs.497636 [show with all ESTs]

Unigene Representative Sequence: NM_001017402

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

ENST00000356082(uc001hhh.3 uc010psl.1 uc009xcp.1) ENST00000367030

ENST00000455193 ENST00000415782 ENST00000391911(uc001hhg.3 uc009xco.3)

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		hsa-miR-133a hsa-miR-133b hsa-miR-24
		SwitchGear 3'UTR luciferase reporter plasmid: LAMB3 3' UTR sequence

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Additional cDNA sequence:

AK296851.1 AK309524.1 AY035783.1 BC058922.1 BC075838.1 D37766.1 L25541.1

13 DOTS entries:

DT.95186987 DT.86858908 DT.121417740 DT.121417732 DT.99927221 DT.100755268 DT.100014491 DT.100755266

DT.100755267 DT.121417754 DT.92409688 DT.95218181 DT.92443575

24/248 AceView cDNA sequences (see all 248):

CB242603 BU528495 BE870001 BM560717 AA659927 CA488872 BU538660 AI801158

BQ687386 BQ918264 BQ691062 BQ951009 BQ951321 BM999909 CA488672 BM769454

CK904736 BM047246 AW117837 AW087532 BM831008 BC075838 BQ027535 BM989217

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for LAMB3 (see all 17) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	^	13	^	14a	·	14b	^	15a	·	15b	·	15c	^
SP1:							-												-
SP2:																			-
SP3:																			-
SP4:
SP5:							-												-		-		-

ExUns:	16a	·	16b	·	16c	·	16d	^	17	^	18a	·	18b	^	19a	·	19b	·	19c	^	20a	·	20b	·	20c	^	21	^	22	^	23a	·	23b	^	24	^	25
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for LAMB3

(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

LAMB3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCATTGAAAC

About this image

LAMB3 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Elongated Spermatid

Germ Cells, Male Gametocytes

Lung

Renal Collecting Duct System

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

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

Endothelium

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

CD31, CD144 positive cells (Two-step protocol fo...)

See LAMB3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMB3

SOURCE GeneReport for Unigene cluster: Hs.497636

UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751

Tissue specificity: Found in the basement membranes (major component)

SABiosciences Expression via Pathway-Focused PCR Array including LAMB3:

Extracellular Matrix & Adhesion Molecules in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3

(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 LAMB3 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LAMB3¹	laminin, beta 3	62.06(n) 53.24(a)		428268 XM_425827.2 XP_425827.2
lizard (Anolis carolinensis)	Reptilia	LAMB3⁶ NTNG2⁶	--	52(a) 13(a)	1 ↔ 1 possible ortholog	4(125895133-125933194) GL343812.1(183328-201709)
zebrafish (Danio rerio)	Actinopterygii	CABZ01083546.1⁶ ntn4⁶ (see all 3)	netrin 4 (see all 3)	47(a) 25(a) (see all 3)	possible ortholog possible ortholog (see all 3)	Zv9_NA282(1295-8441) Zv9_NA880(4250-13867)

ENSEMBL Gene Tree for LAMB3 (if available)
TreeFam Gene Tree for LAMB3 (if available)

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

Paralogs for LAMB3 gene

NTN4² LAMA1² NTN5² LAMA3² LAMA2² LAMB2² LAMC1² LAMC2²

LAMA5² NTN3² LAMC3² LAMA4² NTN1² NTNG1² USH2A² LAMB4²

LAMB1² NTNG2²

4 SIMAP similar genes for LAMB3 using alignment to 2 protein entries: LAMB3_HUMAN (see all proteins):

LAMB4 LAMB1 LAMB2 NTN4

LAMB3 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	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80356680^1,2	C	pathogenic	207358723(-)	`TTCTCC/TGAGCT`	6	R *	stg¹		1	EU	1323
rs80356682^1,2	C,F	pathogenic	207383015(-)	`AGATCC/TGAGCA`	6	R *	stg¹		1	NA	4552
rs200322380^1,2	C	other	207386135(+)	`TCCATC/G/TTGGGA`	9	Q H	syn¹ mis¹		1	EU	963
rs76876602^1,2	F,	--	180463289(+)	`GAATCG/ACTGCT`	3	--	ds500¹		1	WA	118
rs77770968^1,2	F,	--	180463464(+)	`GACAGA/GAACAG`	3	--	ds500¹		1	WA	118
rs12074071^1,2	C,F,	--	180463502(+)	`AGACTG/ATTTTT`	3	--	ds500¹		1	EA	120
rs112881417^1,2	C	--	180464043(+)	`TGTCTC/G/TAGGCA`	3	--	int¹		1	CSA	1
rs77567304^1,2		--	180464098(+)	`AGACTC/TCCAAC`	3	--	int¹		2	CSA WA	120
rs76477123^1,2		--	180464472(+)	`CTACCG/ACCTCC`	3	--	int¹		2	CSA WA	120
rs73081648^1,2	C,F,	--	180464808(+)	`TTAAAT/CATAAT`	3	--	int¹		3	WA	122

HapMap Linkage Disequilibrium report for LAMB3 (209788215 - 209825820 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LAMB3: --
Human Gene Mutation Database (HGMD): LAMB3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LAMB3

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(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

LAMB3 for disorders           About GeneDecksing

OMIM gene information: 150310
OMIM disorders: 226700  226650
UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751

Defects in LAMB3 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

Defects in LAMB3 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB

is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin,

associated with hair and tooth abnormalities

20/30 diseases for LAMB3 (see all 30): About MalaCards

epidermolysis bullosa junctional epidermolysis bullosa non-small cell lung carcinoma bullous pemphigoid

essential thrombocythemia esophageal squamous cell carcinoma squamous cell carcinoma skin disease

ewing's family of tumors maculopathy carcinoid tumors nephrotic syndrome

lung carcinoma toxoplasmosis cervicitis carcinoma

cervical carcinoma cervical cancer twinning esophagitis

1 disease from the University of Copenhagen DISEASES database for LAMB3:

Epidermolysis bullosa

10 Novoseek disease relationships for LAMB3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa junctional	98.5	46	9457915 (4), 10469327 (3), 8618058 (3), 11023379 (3) (see all 30)
gabeb	93.1	6	10951252 (3), 9690563 (2), 9767254 (1)
lethal junctional epidermolysis bullosa	91	2	9579554 (1), 11296269 (1)
epidermolysis bullosa	86.5	2	7774918 (1), 7550237 (1)
skin diseases	60	6	8618058 (1), 9457915 (1), 9759651 (1), 8618020 (1) (see all 6)
pemphigoid bullous	55.2	1	9487212 (1)
necrosis	0	1	7635220 (1)
cancer lung	0	2	10964684 (1)
tumors	0	6	7635220 (1), 14973053 (1), 15846078 (1), 14695139 (1) (see all 5)
cancer	0	3	18570662 (1), 14695139 (1)

GeneTests: LAMB3

Junctional Epidermolysis Bullosa

Genetic Association Database (GAD): LAMB3
Human Genome Epidemiology (HuGE) Navigator: LAMB3 (2 documents)

Export disorders for LAMB3 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)
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PubMed articles for LAMB3 gene, integrated from 9 sources (see all 136):
(articles sorted by number of sources associating them with LAMB3)

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

Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (PubMed id 7774918)^{1, 2, 3, 9} Pulkkinen L....Uitto J. (1995)
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). (PubMed id 7550237)^{1, 2, 9} Pulkkinen L.... Uitto J. (1995)
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PubMed id 17476356)^{1, 2, 9} Pasmooij A.M.G.... Jonkman M.F. (2007)
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. (PubMed id 9767254)^{1, 2, 9} Mellerio J.E.... McGrath J.A. (1998)
The complete primary structure for a novel laminin chain, the laminin B1k chain. (PubMed id 7512558)^{1, 2, 9} Gerecke D.R.... Burgeson R.E. (1994)
In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. (PubMed id 11296269)^{1, 2, 9} Robbins P.B.... Khavari P.A. (2001)
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)
ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PubMed id 19275936)^{1, 2} Sercu S.... Merregaert J. (2009)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 3914	HGNC: 6490	AceView: LAMB3	Ensembl:ENSG00000196878	euGenes: HUgn3914
ECgene: LAMB3	Kegg: 3914	H-InvDB: LAMB3

(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 LAMB3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LAMB3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMB3

Intellectual Property for LAMB3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LAMB3 gene:
Search GeneIP for patents involving LAMB3

GeneCards and IP:
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laminin, beta 3

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