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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), BM600...)
(Previous symbol: LAMNB1)

23 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Laminin, Beta 3¹ ²		Nicein Subunit Beta² ³
LAMNB1¹ ² ³		BM600-125KDA²
Laminin, Beta 3 (Nicein (125kD), Kalinin (140kD), BM600 (125kD))¹ ²		LAM5²
Epiligrin Subunit Bata² ³		kalinin-140kDa²
Kalinin B1 Chain² ³		Laminin S B3 Chain²
Kalinin Subunit Beta² ³		Laminin Subunit Beta-3²
Laminin B1k Chain² ³		nicein-125kDa²
Laminin-5 Subunit Beta² ³

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 Gene:

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)

GeneCards Summary for LAMB3 Gene:

LAMB3 (laminin, beta 3) is a protein-coding gene. Diseases associated with LAMB3 include maternal uniparental disomy of chromosome 1, and lamb3-related junctional epidermolysis bullosa, and among its related super-pathways are Syndecan interactions and Focal Adhesion. GO annotations related to this gene include protein binding and structural molecule activity. An important paralog of this gene is LAMC1.

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) Gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_167186.1 NC_018912.2

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for LAMB3 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q13751

LAMB3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : 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 for LAMB3:

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

HGNC Gene Families:

LAM: Laminins

3 InterPro protein domains:

IPR008211 Laminin_N

IPR013032 EGF-like_CS

IPR002049 EGF_laminin

Graphical View of Domain Structure for InterPro Entry Q13751

ProtoNet protein and cluster: Q13751

1 Blocks protein domain: 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

LAMB3 for domains About GeneDecksing

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: 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

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:0005198	structural molecule activity	NAS	7550320
GO:0005515	protein binding	IPI	19275936

LAMB3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for LAMB3:

Cell cycle / mitosis defect

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

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for LAMB3 About (see all 18)

See pathways by source

SuperPath

Contained pathways About

Non-integrin membrane-ECM interactions

	Non-integrin membrane-ECM interactions	0.44			Integrin cell surface interactions	0.32
	ECM-receptor interaction	0.42

Focal Adhesion

Focal Adhesion

0.64

Focal adhesion

0.64

Cell adhesion ECM remodeling

Cell adhesion ECM remodeling

0.31

Metalloproteases in connective tissue degradation

0.31

Integrin Pathway

Integrin Pathway	0.67	UPA-UPAR Pathway	0.56
FAK1 Signaling	0.67	Inhibition of Angiogenesis by TSP1	0.50
GnRH Signaling	0.56	Transendothelial Migration of Leukocytes	0.38

Rho Family GTPases

Rho Family GTPases	0.61	Molecular Mechanisms of Cancer	0.51
ERK Signaling	0.61	ILK Signaling	0.49
MAPK Signaling	0.58

Pathways by source See SuperPaths
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

5/10 Reactome Pathways for LAMB3 (see all 10)

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

5/7 Kegg Pathways (Kegg details for LAMB3) (see all 7):

	PI3K-Akt signaling pathway
	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis

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): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	7774918
GO:0030198	extracellular matrix organization	TAS	--
GO:0031581	hemidesmosome assembly	TAS	--
GO:0034329	cell junction assembly	TAS	--

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, IUPHAR, 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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, 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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Additional mRNA 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):

BE870001 BM560717 CB242603 CK904736 BM989217 AW079615 BQ687386 AI874210

BQ027535 AY035783 BM831118 AI696934 BM831008 AW338452 BQ691062 BG680183

BC075838 CA488872 BQ083941 CA453966 BQ918264 BM999909 BG681883 BG676026

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) LAMB3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCATTGAAAC

About this image

LAMB3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/9 selected tissues (see all 9) fully expand


Brain (Nervous System) fully expand to see all 14 entries
Thalamus
Midbrain

Kidney (Urinary System) fully expand to see all 2 entries
Renal Collecting Duct System
"PureStem ES-209, Meso-prx/latp Progenitor"

Endothelium (Cardiovascular System) fully expand to see all 2 entries
"PureStem ES-209, Meso-prx/latp Progenitor"
CD31, CD144 positive cells (Two-step protocol for endothelial differentiation by...

Lung (Respiratory System)
Basal Cells Trachea

Skin (Integumentary System)
Keratinocytes-like cells (Derivation of keratinocytes from human embryonic stem cells...

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:

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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 animals.

Orthologs for LAMB3 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lamb3^{1 , 5}	laminin, beta 3^{1, 5}	82.42(n)¹ 82.71(a)¹		1 (97.71 cM)⁵ 16780¹ NM_008484.2¹ NP_032510.2¹ 193301957⁵
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	Uncharacterized protein	52(a)	1 ↔ 1	4(125895133-125933194)
fruit fly (Drosophila melanogaster)	Insecta	LanB1⁶	LanB1	19(a)	1 → many	2L(7811440-7820771)
worm (Caenorhabditis elegans)	Secernentea	lam-1⁶	Protein LAM-1	18(a)	1 → many	IV(5173280-5183218)

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

LAMC1² LAMC2² NTN3² NTN4² NTN5² LAMC3² NTN1² NTNG1²

USH2A² NTNG2² LAMB4² LAMB2² LAMB1²

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, ⁴UniProtKB, 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)
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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
				--	--	--		--	--
VAR_037310⁴		Generalized atrophic benign epidermolysis bullosa (GABEB)⁴	--	see VAR_037310	2	G A	mis⁴		0	--	--	--	--
VAR_004170⁴		Generalized atrophic benign epidermolysis bullosa (GABEB)⁴	--	see VAR_004170	2	E K	mis⁴		0	--	--	--	--
VAR_004171⁴		Epidermolysis bullosa, junctional, Herlitz type (H-JEB)⁴	--	see VAR_004171	2	P L	mis⁴		0	--	--	--	--
VAR_035820⁴		A colorectal cancer sample⁴	--	see VAR_035820	2	R C	mis⁴		0	--	--	--	--
VAR_037311⁴		Generalized atrophic benign epidermolysis bullosa (GABEB)⁴	--	see VAR_037311	2	K Q	mis⁴		0	--	--	--	--
rs80356682^1,2	C,F	pathogenic¹	216604237(-)	`AGATCC/TGAGCA`	6	R *	stg¹		1		NA	4552
rs80356680^1,2	C	pathogenic¹	216628538(-)	`TTCTCC/TGAGCT`	6	R *	stg¹		1		EU	1323
rs200322380^1,2	C	untested¹	216601113(+)	`TCCATC/G/TTGGGA`	6	Q	syn¹		1		EU	963
rs11446810^1,2	C	--	180482193(+)	`ATTCA-/CAAAAA`	3	--	int¹ trp³		0	--	--	--	--
rs113874240^1,2	C	--	180494342(+)	`AGGGG-/A/AA AAAAA`	3	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for LAMB3 (209788215 - 209825820 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for LAMB3: --

Human Gene Mutation Database (HGMD): LAMB3

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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LAMB3 for disorders           About GeneDecksing

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

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. Note=The disease is caused by mutations affecting the gene represented in

this entry

Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional

epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.

Note=The disease is caused by mutations affecting the gene represented in this entry

20/23 diseases for LAMB3 (see all 23): About MalaCards

maternal uniparental disomy of chromosome 1 lamb3-related junctional epidermolysis bullosa ewing's family of tumors junctional epidermolysis bullosa

epidermolysis bullosa essential thrombocythemia bullous pemphigoid toxoplasmosis

skin disease nephrotic syndrome non-small cell lung carcinoma cervicitis

esophageal squamous cell carcinoma nasopharyngitis cholangiocarcinoma cervical cancer

esophagitis squamous cell carcinoma colon cancer prostatitis

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

Epidermolysis bullosa

10 Novoseek inferred 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 148):
(articles sorted by number of sources associating them with LAMB3)

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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)
Polymorphisms involved in the miR-218-LAMB3 pathway a nd susceptibility of cervical cancer, a case-control study in Chinese women. (PubMed id 20163849)^{1, 4, 9} Zhou X....Hu Z. (2010)
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)

(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)
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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)
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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

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Patent Information for LAMB3 gene:
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Laminin, Beta 3

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