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Set Analyses:

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LAMA3 Gene

protein-coding GIFtS: 66
GCID: GC18P021269

Laminin, Alpha 3

(Previous names: laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM60...)
(Previous symbol: LAMNA)

See 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)
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Aliases
Laminin, Alpha 3¹ ²		E170² ³
LAMNA¹ ² ³		LOCS² ⁵
Laminin, Alpha 3 (Nicein (150kD), Kalinin (165kD), BM600 (150kD), Epilegrin)¹ ²		BM600²
Epiligrin 170 KDa Subunit² ³		BM600 150kD Subunit²
Epiligrin Subunit Alpha² ³		Epiligrin Alpha 3 Subunit²
Kalinin Subunit Alpha² ³		Kalinin 165kD Subunit²
Laminin-5 Subunit Alpha² ³		lama3a²
Laminin-6 Subunit Alpha² ³		Laminin Subunit Alpha-3²
Laminin-7 Subunit Alpha² ³		Laminin-5 Alpha 3 Chain²
Nicein Subunit Alpha² ³		Nicein 150kD Subunit²

External Ids:	HGNC: 6483¹	Entrez Gene: 3909²	Ensembl: ENSG00000053747⁷	OMIM: 600805⁵	UniProtKB: Q16787³

Export aliases for LAMA3 gene to outside databases

Previous GC identifers: GC18P021345 GC18P021184 GC18P019521 GC18P019523 GC18P018125

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LAMA3 Gene:

Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells

into tissues during embryonic development by interacting with other extracellular matrix components. The protein

encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three

subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and

differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type

junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been

identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for LAMA3 Gene:

LAMA3 (laminin, alpha 3) is a protein-coding gene. Diseases associated with LAMA3 include laryngoonychocutaneous syndrome, and lama3-related junctional epidermolysis bullosa. GO annotations related to this gene include structural molecule activity and receptor binding. An important paralog of this gene is LAMC1.

UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787

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

Function: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion

and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK

and p80, (3) differentiation of keratinocytes

Gene Wiki entry for LAMA3 (Laminin, alpha 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)
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RefSeq DNA sequence:

NC_000018.10 NC_018929.2 NT_010966.15

Regulatory elements:

Regulatory transcription factor binding sites in the LAMA3 gene promoter:
E2F-3a E2F-4 E2F-5 Olf-1 E2F-2 E4BP4 PPAR-alpha E2F-1 E2F c-Myb
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LAMA3 promoter sequence

Search Chromatin IP Primers for LAMA3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMA3

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

Entrez Gene cytogenetic band: 18q11.2 Ensembl cytogenetic band: 18q11.2 HGNC cytogenetic band: 18q11.2

LAMA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMA3 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18P021269: view genomic region (about GC identifiers)

Start:	21,269,407 bp from pter	End:	21,535,030 bp from pter
Size:	265,624 bases	Orientation:	plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787 (See protein sequence)

Recommended Name: Laminin subunit alpha-3 precursor

Size: 3333 amino acids; 366649 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. Alpha-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein),

laminin-6 (laminin-311 or K-laminin) and laminin-7 (laminin-321 or KS-laminin)

Secondary accessions: Q13679 Q13680 Q6VU67 Q6VU68 Q6VU69 Q76E14 Q96TG0

Alternative splicing: 4 isoforms: Q16787-2 Q16787-1 Q16787-3 Q16787-4

Explore the universe of human proteins at neXtProt for LAMA3: NX_Q16787

Explore proteomics data for LAMA3 at MOPED

Post-translational modifications:

Glycosylation² at Asn745, Asn882, Asn964, Asn1131, Ser1355, Asn1477

Modification sites at PhosphoSitePlus

See LAMA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_000218.2 NP_001121189.1 NP_001121190.1 NP_937762.1

ENSEMBL proteins:

ENSP00000324532 ENSP00000468316 ENSP00000382432 ENSP00000467662 ENSP00000269217

ENSP00000466557 ENSP00000464836 ENSP00000467473 ENSP00000466658 ENSP00000468315

Reactome Protein details: Q16787

LAMA3 Human Recombinant Protein Products:

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	Novus Biologicals LAMA3 Protein Novus Biologicals LAMA3 Lysate
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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

LAMA3 Antibody Products:

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	Novus Biologicals LAMA3 Antibodies
	Abcam antibodies for LAMA3 (Q16787, Q13753)
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	LSBio Antibodies in human, mouse, rat for LAMA3

LAMA3 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for LAMA3
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

LAM: Laminins

Selected InterPro protein domains (see all 10):

IPR018031 Laminin_B_subgr

IPR000034 Laminin_B_type_IV

IPR008211 Laminin_N

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

Graphical View of Domain Structure for InterPro Entry Q16787

ProtoNet protein and cluster: Q16787

2 Blocks protein domains:

IPB001791 Laminin G

IPB009254 Laminin I

UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787

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

structure

Domain: Domain G is globular

Similarity: Contains 15 laminin EGF-like domains

Similarity: Contains 5 laminin G-like domains

Similarity: Contains 1 laminin IV type A domain

Similarity: Contains 1 laminin N-terminal domain

LAMA3 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, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: LAMA3_HUMAN, Q16787

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

Function: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion

and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK

and p80, (3) differentiation of keratinocytes

Induction: Laminin-5 is up-regulated in wound sites of human skin

Genatlas biochemistry entry for LAMA3:

laminin,alpha 3 polypeptide,heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5

(kalinin/nicein),component of cutaneous basement membrane zone

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0004871	signal transducer activity	--	--
GO:0005102	receptor binding	IEA	--
GO:0005198	structural molecule activity	NAS	8586427
GO:0005515	protein binding	--	--

LAMA3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for LAMA3:

Decreased number of cells in m

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lama3):

craniofacial

digestive/alimentary

growth/size/body

integument

mortality/aging

LAMA3 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Lama3^tm1Crt for LAMA3

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMA3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LAMA3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMA3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMA3

miRNA Products:		miRTarBase miRNAs that target LAMA3: hsa-mir-181a-5p (MIRT047318), hsa-mir-26b-5p (MIRT030215)

		Block miRNA regulation of human, mouse, rat LAMA3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate LAMA3 (see all 23):
		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: LAMA3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for LAMA3
		Predesigned siRNA for gene silencing in human, mouse, rat LAMA3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LAMA3

Clone Products:		OriGene clones in human, mouse for LAMA3 (see all 17) OriGene ORF clones in mouse, rat for LAMA3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): LAMA3 (NM_000227)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMA3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMA3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LAMA3
		Browse ESI BIO Cell Lines and PureStem Progenitors for LAMA3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

LAMA3_HUMAN, Q16787: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
plasma membrane	3
nucleus	2
cytosol	1
endoplasmic reticulum	1
golgi apparatus	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005604	basement membrane	TAS	8586427
GO:0005606	laminin-1 complex	IEA	--
GO:0005610	laminin-5 complex	IEA	--

LAMA3 for ontologies About GeneDecksing

(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 GeneDecks, 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).
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SuperPaths for LAMA3 About (see all 20)

See pathways by source

SuperPath

Contained pathways About

Focal adhesion

	Focal adhesion	0.65			ECM-receptor interaction	0.31
	Focal Adhesion	0.65

Cell adhesion ECM remodeling

Metalloproteases in connective tissue degradation

0.31

Cell adhesion ECM remodeling

0.31

Alpha6-Beta4 Integrin Signaling Pathway

Alpha6-Beta4 Integrin Signaling Pathway

Type I hemidesmosome assembly

0.00

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

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

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMA3 (see all 14)

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

1 GeneGo (Thomson Reuters) Pathway for LAMA3

Cell adhesion ECM remodeling

5 BioSystems Pathways for LAMA3

	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway
	Syndecan-2-mediated signaling events
	Syndecan-4-mediated signaling events
	Validated transcriptional targets of AP1 family members Fra1 and Fra2

Selected Reactome Pathways for LAMA3 (see all 7)

	Anchoring fibril formation
	ECM proteoglycans
	Laminin interactions
	Type I hemidesmosome assembly
	Assembly of collagen fibrils and other multimeric structures

Selected Kegg Pathways (Kegg details for LAMA3) (see all 7):

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

LAMA3 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including LAMA3:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Interactions:

GeneGlobe Interaction Network for LAMA3

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

Selected Interacting proteins for LAMA3 (Q16787^{2, 3} ENSP00000324532⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 67)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC35E1	Q96K37²^,³, ENSP00000387152⁴	MINT-64295 I2D: score=3 STRING: ENSP00000387152
APC	P25054³, ENSP00000257430⁴	I2D: score=3 STRING: ENSP00000257430
LAMB3	Q13751³, ENSP00000348384⁴	I2D: score=2 STRING: ENSP00000348384
BMP1	P13497³, ENSP00000305714⁴	I2D: score=1 STRING: ENSP00000305714
LAMB1	P07942³, ENSP00000222399⁴	I2D: score=1 STRING: ENSP00000222399

About this table

Gene Ontology (GO): Selected biological process terms (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0007155	cell adhesion	IEA	--
GO:0007165	signal transduction	--	--
GO:0008544	epidermis development	TAS	8586427
GO:0022617	extracellular matrix disassembly	TAS	--

LAMA3 for ontologies About GeneDecksing

(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for LAMA3

1 Novoseek inferred chemical compound relationship for LAMA3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	81.5	3	7573357 (1), 15953081 (1), 7635220 (1)

LAMA3 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for LAMA3 gene (4 alternative transcripts):

NM_000227.3 NM_001127717.1 NM_001127718.1 NM_198129.1

Unigene Cluster for LAMA3:

Laminin, alpha 3

Hs.436367 [show with all ESTs]

Unigene Representative Sequence: NM_198129

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

ENST00000313654(uc002kuq.3) ENST00000585600 ENST00000399516(uc010dlv.2 uc002kur.3)

ENST00000591749 ENST00000592519 ENST00000269217(uc002kus.4 uc002kut.4)

ENST00000587184 ENST00000586751 ENST00000588770 ENST00000586709 ENST00000588164

ENST00000592442 ENST00000590104 ENST00000588004

miRNA Products:		Block miRNA regulation of human, mouse, rat LAMA3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate LAMA3 (see all 23):
		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: LAMA3 3' UTR sequence

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		Predesigned siRNA for gene silencing in human, mouse, rat LAMA3

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		GenScript: all cDNA clones in your preferred vector (see all 4): LAMA3 (NM_000227)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMA3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMA3

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for LAMA3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat LAMA3
		QuantiTect SYBR Green Assays in human, mouse, rat LAMA3
		QuantiFast Probe-based Assays in human, mouse, rat LAMA3

Additional mRNA sequence:

AB208853.1 AK096422.1 AY327114.1 AY327115.1 AY327116.1 BC033663.1 BC043618.1 BC093406.1

L34155.1 L34156.1 X84392.1 X84900.1 X85107.1 X85108.1

9 DOTS entries:

DT.92448000 DT.95243961 DT.100754621 DT.92068550 DT.101971561 DT.99933393 DT.100016938 DT.95243939

DT.95243955

Selected AceView cDNA sequences (see all 165):

BI335805 BP354564 BX101940 W67580 AU140779 CA392258 AY327114 BC043618

AI129128 BP353642 NM_198129 AY327116 NM_000227 CA446402 L34155 CA423430

AI567045 AK024889 AY327115 CA427431 AL708055 BX114291 CR621377 BG677741

GeneLoc Exon Structure

(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™, 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)
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LAMA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGTATTTTAT

About this image

LAMA3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


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

Epithelial Cells
Early Ameloblasts Dental Enamel

Lung (Respiratory System)
Basal Cells Trachea

Testis (Reproductive System)
Elongated Spermatid Seminiferous Tubules

Gonad
Elongated Spermatid Seminiferous Tubules

LAMA3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

LAMA3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.436367

UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787

Tissue specificity: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with

prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that

migrates into a wound bed. A differential and focal expression of the subunit alpha-3 is observed in the CNS

Pathway & Disease-focused RT² Profiler PCR Array including LAMA3:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for LAMA3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat LAMA3
		QuantiTect SYBR Green Assays in human, mouse, rat LAMA3
		QuantiFast Probe-based Assays in human, mouse, rat LAMA3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA3

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for LAMA3 gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lama3^{1 , 5}	laminin, alpha 3^{1, 5}	81.17(n)¹ 78.68(a)¹		18 (6.20 cM)⁵ 16774¹ NM_010680.1¹ NP_034810.1¹ 12334024⁵
chicken (Gallus gallus)	Aves	LAMA3¹	laminin, alpha 3	63.47(n) 57.27(a)		428524 XM_004939788.1 XP_004939845.1
lizard (Anolis carolinensis)	Reptilia	LAMA3⁶	laminin, alpha 3	55(a)	1 ↔ 1	4(37985524-38143246)
tropical clawed frog (Xenopus tropicalis)	Amphibia	lama3¹	laminin, alpha 3	59.01(n) 50.58(a)		100496680 XM_002934138.2 XP_002934184.2
zebrafish (Danio rerio)	Actinopterygii	LAMA3 (1 of 2)⁶ lama3⁶	laminin, alpha 3	33(a) 30(a)	1 ↔ many 1 ↔ many	2(1128112-1169188) ENSDARG00000022615 22(16605199-16622798) ENSDARG00000071462

ENSEMBL Gene Tree for LAMA3 (if available)
TreeFam Gene Tree for LAMA3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for LAMA3 gene

LAMC1² LAMA5² LAMC2² LAMA1² LAMC3² LAMA4² LAMA2² USH2A²

LAMB4² LAMB2² LAMB1²

12 SIMAP similar genes for LAMA3 using alignment to 12 protein entries: LAMA3_HUMAN (see all proteins):

LamA3 LAMA5 MEGF9 HSPG2 LAMA2 LAMA4

LAMA1 ATRNL1 LAMC2 NTN1 LAMB2 LAMA4*-1

LAMA3 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), 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 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112572800^1,2	C	--	18153164(+)	`GCTAAA/TTTTTT`	2	--	int¹		0	--	--	--	--
rs5823403^1,2	C,F	--	18268810(+)	`TTATT-/A/TAAA AAAAA`	2	--	int¹ trp³		3		NA CSA	6
rs112262111^1,2	F	--	18305618(+)	`ATGGCG/AAAACC`	2	--	int¹		1		CSA	2
rs113214620^1,2	C	--	18325122(+)	`GAAGGA/GAGGAA`	4	--	int¹		0	--	--	--	--
rs35301452^1,2	C	--	18347756(+)	`TTTTTT/-GAGAC`	4	--	int¹		1		NA	2
rs11448357^1,2	C	--	18351651(+)	`AAAAGA/-AAAAG`	4	--	int¹ trp³		1		NA	2
rs9952933^1,2	C	--	18351662(+)	`AAAAGA/GAAAAG`	4	--	int¹ trp³		0	--	--	--	--
rs34752262^1,2	C,F	--	18351663(+)	`AAAAGA/-AAAAG`	4	--	int¹		2		NA	4
rs143548754^1,2	C	--	18351663(+)	`AAAGA-/AAAAG AAAAG`	4	--	int¹		0	--	--	--	--
rs34277541^1,2	C	--	18352614(+)	`GGTAA-/TTTTTT`	4	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for LAMA3 (21269407 - 21519407 bp, first 250kb of LAMA3)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for LAMA3: About this table

Variant ID	Type	Subtype	PubMed ID
esv2664111	CNV	Deletion	23128226
esv2556502	CNV	Deletion	19546169
esv2671824	CNV	Deletion	23128226
esv2716865	CNV	Deletion	23290073
esv2657446	CNV	Deletion	23128226
esv2839	CNV	Deletion	18987735
esv2716866	CNV	Deletion	23290073
nsv2228	CNV	Insertion	18451855

Human Gene Mutation Database (HGMD): LAMA3

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing LAMA3

DNA2.0 Custom Variant and Variant Library Synthesis for LAMA3

(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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OMIM gene information: 600805
OMIM disorders: 226700 226650 245660
UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787

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

Laryngoonychocutaneous syndrome (LOCS) [MIM:245660]: Autosomal recessive epithelial disorder confined to

the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant

vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. Note=The disease is caused

by mutations affecting the gene represented in this entry

Selected diseases for LAMA3 (see all 52):
About MalaCards

laryngoonychocutaneous syndrome lama3-related junctional epidermolysis bullosa cardiomyopathy, dilated, 1jj maternal uniparental disomy of chromosome 1

presbyopia junctional epidermolysis bullosa, non-herlitz type junctional epidermolysis bullosa junctional epidermolysis bullosa, herlitz type

epidermolysis bullosa acquisita epidermolysis bullosa cicatricial pemphigoid senile cataract

crescentic glomerulonephritis endocervicitis congenital muscular dystrophy malignant peripheral nerve sheath tumor

bullous pemphigoid cervical adenocarcinoma toxoplasmosis spinal cord injury

4 diseases from the University of Copenhagen DISEASES database for LAMA3:

Epidermolysis bullosa Senile cataract Myopia Glaucoma

LAMA3 for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for LAMA3 gene (see all 14) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa junctional	96.5	15	9759651 (2), 8530087 (2), 10469327 (1), 12915477 (1) (see all 13)
lethal junctional epidermolysis bullosa	84.7	1	9027848 (1)
epidermolysis bullosa	78.1	1	7550237 (1)
pemphigoid cicatricial	72.9	1	12746470 (1)
epidermolysis bullosa acquisita	62	2	10677099 (1), 12746470 (1)
skin diseases	50.8	7	8618058 (1), 9759651 (1), 8618020 (1), 8530087 (1) (see all 7)
pemphigoid bullous	40.2	1	12746470 (1)
carcinoma squamous cell	17	1	11267939 (1)
necrosis	0	1	7635220 (1)
breast cancer	0	5	11551969 (3), 14695139 (2)

GeneTests: LAMA3
GeneReviews: LAMA3
Genetic Association Database (GAD): LAMA3
Human Genome Epidemiology (HuGE) Navigator: LAMA3 (9 documents)

Export disorders for LAMA3 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 LAMA3 gene, integrated from 10 sources (see all 175):
(articles sorted by number of sources associating them with LAMA3)

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

Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair. (PubMed id 8077230)^{1, 2, 3, 9} Ryan M.C.... Carter W.G. (J. Biol. Chem. 1994)
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. (PubMed id 8586427)^{1, 2, 9} Vidal F.... Meneguzzi G. (Genomics 1995)
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (PubMed id 12915477)^{1, 2, 9} McLean W.H.I.... McGrath J.A. (Hum. Mol. Genet. 2003)
Genetic risk for myocardial infarction in Japanese individuals with or without chronic kidney disease. (PubMed id 20372818)^{1, 4} Fujimaki T....Yamada Y. (Int. J. Mol. Med. 2010)
Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)^{1, 4} Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)^{1, 4} Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)^{1, 4} Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)^{1, 4} Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
Characterization of laminin 5B and NH2-terminal proteolytic fragment of its alpha3B chain: promotion of cellular adhesion, migration, and proliferation. (PubMed id 15044476)^{1, 2} Kariya Y....Miyazaki K. (J. Biol. Chem. 2004)
Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. (PubMed id 9759651)^{1, 9} Pulkkinen L....Christiano A.M. ( a journal of technical methods and pathology 1998)

(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: 3909	HGNC: 6483	AceView: LAMA3	Ensembl:ENSG00000053747	euGenes: HUgn3909
ECgene: LAMA3	Kegg: 3909	H-InvDB: LAMA3

(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 LAMA3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMA3[genesymbol]

Intellectual Property for LAMA3 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 LAMA3 gene:
Search GeneIP for patents involving LAMA3

Licensable Technologies for LAMA3 gene:

Tufts University:

Laminins and their functions in nervous systems

GeneCards and IP:
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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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LAMA3 Gene

Laminin, Alpha 3

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LAMA3 (Gene Symbol)
Laminin, Alpha 3
LAMNA
Laminin, Alpha 3 (Nicein (150kD), Kalinin (165kD), BM600 (150kD), Epilegrin)
Epiligrin 170 KDa Subunit
Epiligrin Subunit Alpha
Kalinin Subunit Alpha
Laminin-5 Subunit Alpha
Laminin-6 Subunit Alpha
Laminin-7 Subunit Alpha
Nicein Subunit Alpha
E170
LOCS
BM600
BM600 150kD Subunit
Epiligrin Alpha 3 Subunit
Kalinin 165kD Subunit
lama3a
Laminin Subunit Alpha-3
Laminin-5 Alpha 3 Chain
Nicein 150kD Subunit

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LAMA3 Gene

Laminin, Alpha 3

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