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LAMB3 Gene

protein-coding GIFtS: 68
GCID: GC01M209788

Laminin, Beta 3

(Previous names: laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600...)
(Previous symbol: LAMNB1)

See LAMB3-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, GeneCards, 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. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is NTN1.

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

RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NT_004487.20 NC_018912.2

Regulatory elements:

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 Chromatin IP Primers for LAMB3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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

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:

Glycosylation² at Asn220, Asn604, Ser712, Asn810

Modification sites at PhosphoSitePlus

See LAMB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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	antibodies-online proteins for LAMB3 (8 products)
	antibodies-online peptides for LAMB3

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	antibodies-online kits for LAMB3 (6 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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

Find genes that share domains with LAMB3 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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): 3 molecular function terms: 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	IEA	--

Find genes that share ontologies with LAMB3 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for LAMB3:

Cell cycle / mitosis defect

5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Lamb3):

craniofacial

digestive/alimentary

integument

mortality/aging

respiratory system

Find genes that share phenotypes with LAMB3 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for LAMB3

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

LAMB3_HUMAN, Q13751: Secreted, extracellular space, extracellular matrix, basement membrane

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
cytosol	1
lysosome	1
mitochondrion	1
peroxisome	1

About this image

Gene Ontology (GO): 3 cellular component terms: 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	--

Find genes that share ontologies with LAMB3 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for LAMB3 About (see all 16)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Focal adhesion

	Focal Adhesion	0.65			ECM-receptor interaction	0.31
	Focal adhesion	0.65

Alpha6-Beta4 Integrin Signaling Pathway

Type I hemidesmosome assembly

0.00

Alpha6-Beta4 Integrin Signaling Pathway

Integrin Pathway

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

ERK Signaling

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

Collagen biosynthesis and modifying enzymes

	Collagen formation	0.75			Anchoring fibril formation	0.00
	Assembly of collagen fibrils and other multimeric structures	0.62

Find genes that share SuperPaths with LAMB3 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe 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

Selected Reactome Pathways for LAMB3 (see all 6)

	Anchoring fibril formation
	Laminin interactions
	Type I hemidesmosome assembly
	Assembly of collagen fibrils and other multimeric structures
	Degradation of the extracellular matrix

Selected Kegg Pathways (Kegg details for LAMB3) (see all 7):

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

Pathway & Disease-focused RT² Profiler PCR Array including LAMB3:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for LAMB3

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

Selected 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): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	7774918
GO:0022617	extracellular matrix disassembly	TAS	--
GO:0030198	extracellular matrix organization	TAS	--
GO:0031581	hemidesmosome assembly	TAS	--

Find genes that share ontologies with LAMB3 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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)

Find genes that share compounds with LAMB3 About GenesLikeMe

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for LAMB3 gene (4 alternative transcripts):

NM_000228.2 NM_001017402.1 NM_001127641.1 XM_005273124.2

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

Selected AceView cDNA sequences (see all 248):

BM043640 BM831008 CB853666 AI692263 BQ918264 AL555216 BQ687386 BU538660

BM047246 BQ951321 BQ951009 CA488672 BG681883 BQ083941 AI653969 BG680183

BM999909 BQ027535 AW087532 AW079615 BM819029 BM769454 BM831118 AL555685

GeneLoc Exon Structure

Selected 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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, 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 <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
selected tissues (see all 10) fully expand


Tooth (Integumentary System) fully expand to see all 7 entries
Early Ameloblasts Dental Enamel
Dental Enamel

Brain (Nervous System) fully expand to see all 7 entries
Thalamus

Epithelial Cells
Early Ameloblasts Dental Enamel

Epidermis (Integumentary System) fully expand to see all 3 entries
Keratinocytes-like cells

NULL (Uncategorized) fully expand to see all 2 entries
Epithelial-like cells

LAMB3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

LAMB3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.497636

UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751

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

Pathway & Disease-focused RT² Profiler 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 chordates.

Orthologs for LAMB3 gene from Selected 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}	82.28(n)¹ 82.62(a)¹		1 (97.71 cM)⁵ 16780¹ NM_001277928.1¹ NP_001264857.1¹ 193301957⁵
chicken (Gallus gallus)	Aves	LAMB3¹	laminin, beta 3	62.38(n) 53.69(a)		428268 XM_425827.3 XP_425827.3
lizard (Anolis carolinensis)	Reptilia	LAMB3⁶	laminin, beta 3	52(a)	1 ↔ 1	4(125895133-125933194)
tropical clawed frog (Xenopus tropicalis)	Amphibia	lamb3¹	laminin, beta 3	58.01(n) 51.31(a)		100125073 XM_002933504.2 XP_002933550.2
zebrafish (Danio rerio)	Actinopterygii	LAMB3⁶	laminin, beta 3	30(a)	1 ↔ 1	22(1050511-1065964) ENSDARG00000059369

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,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for LAMB3 gene

NTN1² NTNG1² NTN3² NTN4² NTN5² NTNG2²

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

LAMB4 LAMB1 LAMB2 NTN4

Find genes that share paralogs with LAMB3 About GenesLikeMe

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers 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, Sets of similar genes according to GenesLikeMe)
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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

8 diseases for LAMB3:
About MalaCards

maternal uniparental disomy of chromosome 1 lamb3-related junctional epidermolysis bullosa junctional epidermolysis bullosa junctional epidermolysis bullosa, herlitz type

mucous membrane pemphigoid epidermolysis bullosa junctional epidermolysis bullosa, non-herlitz type amelogenesis imperfecta, type ib

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

Epidermolysis bullosa

Find genes that share disorders with LAMB3 About GenesLikeMe

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
GeneReviews: LAMB3
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 10 sources (see all 149):
(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. (Genomics 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. (Hum. Mutat. 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. (J. Clin. Invest. 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. (Br. J. Dermatol. 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. (J. Biol. Chem. 1994)
Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women. (PubMed id 20163849)^{1, 4, 9} Zhou X....Hu Z. (Gynecol. Oncol. 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. (Proc. Natl. Acad. Sci. U.S.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. (Ophthalmic Genet. 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. (Matrix Biol. 2009)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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/books/NBK1116/?term=LAMB3[genesymbol]

Intellectual Property for LAMB3 gene
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Patent Information for LAMB3 gene:
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GeneCards and IP:
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Laminin, Beta 3

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