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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMA3 Gene

protein-coding GIFtS: 65
GCID: GC18P021269

laminin, alpha 3

(Previous names: laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM6...)
(Previous symbol: LAMNA)

Explore 41 diseases affiliated with
LAMA3 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, Alpha 3¹ ²		BM600-150kDa¹
LAMNA¹ ² ³		Epiligrin¹
Laminin, Alpha 3 (Nicein (150kD), Kalinin (165kD), BM600 (150kD), Epilegrin)¹ ²		Kalinin-165kDa¹
Epiligrin 170 KDa Subunit² ³		Nicein-150kDa¹
Epiligrin Subunit Alpha² ³		BM600²
Kalinin Subunit Alpha² ³		BM600 150kD Subunit²
Laminin-5 Subunit Alpha² ³		Epiligrin Alpha 3 Subunit²
Laminin-6 Subunit Alpha² ³		Kalinin 165kD Subunit²
Laminin-7 Subunit Alpha² ³		Lama3a¹
Nicein Subunit Alpha² ³		Laminin Subunit Alpha-3²
E170² ³		Laminin-5 Alpha 3 Chain²
LOCS² ⁵		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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LAMA3:

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)

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)

(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_000018.9 NC_018929.1 NT_010966.14

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for LAMA3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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)

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component

Secondary accessions: Q13679 Q13680 Q6VU67 Q6VU68 Q76E14 Q96TG0

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

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16787

LAMA3 Protein expression data from MOPED and PaxDb: About this image

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
Human Recombinant Protein Products for LAMA3:

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	Novus Biologicals LAMA3 Protein Novus Biologicals LAMA3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 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	TAS	8586427
GO:0005606	laminin-1 complex	IEA	--
GO:0005610	laminin-5 complex	IEA	--

LAMA3 for ontologies About GeneDecksing

LAMA3 Antibody Products:

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	Novus Biologicals LAMA3 Antibodies
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	Search ThermoFisher Antibodies for LAMA3

Assay Products for LAMA3:

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	GenScript Custom Assay Services for LAMA3
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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

LAMA3 for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR000034 Laminin_B_type_IV

IPR008211 Laminin_N

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

IPR009254 Laminin_I

Graphical View of Domain Structure for InterPro Entry Q16787

ProtoNet protein and cluster: Q16787

2 Blocks protein families:

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

(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 Mar 2013 via Entrez Gene.)
About This Section

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): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	IEA	--
GO:0005198	structural molecule activity	NAS	8586427

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

integument

mortality/aging

LAMA3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Lama3^tm1Crt for LAMA3

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LAMA3

miRNA Products:		OriGene 3'-UTR Clone (see all 4): LAMA3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMA3
		8/23 QIAGEN miScript miRNA 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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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for LAMA3
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 4): LAMA3 (NM_000227)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA3

(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 - 5/20 super-pathways (see all 20) 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 LAMA3

	Cell adhesion ECM remodeling
	Metalloproteases in connective tissue degradation

5/14 Downloadable PowerPoint Slides of QIAGEN 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-4-mediated signaling events
	Validated transcriptional targets of AP1 family members Fra1 and Fra2
	Syndecan-2-mediated signaling events

5/9 Reactome Pathways for LAMA3 (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 LAMA3) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis
	Pathways in cancer

LAMA3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LAMA3

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

5/42 Interacting proteins for LAMA3 (Q16787^{2, 3} ENSP00000324532⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

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): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	8586427
GO:0030155	regulation of cell adhesion	IEA	--
GO:0030334	regulation of cell migration	IEA	--
GO:0031581	hemidesmosome assembly	TAS	--

LAMA3 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

LAMA3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMA3
1 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about LAMA3

(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, 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 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:		OriGene 3'-UTR Clone (see all 4): LAMA3 Browse OriGene MicroRNA Expression Plasmids
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		8/23 QIAGEN miScript miRNA 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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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LAMA3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMA3

Additional cDNA 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

24/165 AceView cDNA sequences (see all 165):

BI335805 BP354564 AY327114 AI129128 BC043618 CA392258 AU140779 W67580

CA427431 AK024889 AL708055 AY327115 BX114291 BP353642 BX101940 CR621377

BG677741 AY327116 NM_198129 CA446402 CA423430 NM_000227 L34155 AI567045

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™, 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

LAMA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTATTTTAT

About this image

LAMA3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Elongated Spermatid

Germ Cells, Male Gametocytes

Heart

Left Ventricle

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LAMA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMA3

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

SABiosciences Expression via Pathway-Focused PCR Array including LAMA3:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LAMA3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LAMA3
		QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LAMA3 gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LAMA3¹	laminin, alpha 3	64.95(n) 58.71(a)		428524 XM_426078.3 XP_426078.3
lizard (Anolis carolinensis)	Reptilia	LAMA3⁶ LAMA4⁶	--	56(a) 13(a)	1 ↔ 1 possible ortholog	4(37986600-38143145) 1(192610699-192630952)
fruit fly (Drosophila melanogaster)	Insecta	LanA⁶	Laminin A	17(a)	possible ortholog	3L(6196931-6211122)
worm (Caenorhabditis elegans)	Secernentea	epi-1⁶	Laminin-like protein epi-1	20(a)	possible ortholog	IV(10666807-10679421)

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

NTN4² LAMA1² NTN5² LAMA2² LAMB2² LAMC1² LAMC2² LAMA5²

NTN3² LAMB3² LAMC3² LAMA4² NTN1² NTNG1² USH2A² LAMB4²

LAMB1² NTNG2²

15 SIMAP similar genes for LAMA3 using alignment to 13 protein entries: LAMA3_HUMAN (see all proteins):

LamA3 LAMA5 MEGF9 LAMA2 HSPG2 LAMA4

LAMA1 ATRNL1 LAMC2 NTN1 LAMB2 LAMA4*-1

LAMC3 MEGF8 TIE

LAMA3 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)
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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
				--	--	--		--	--
rs12604294^1,2	C,H	--	18126117(+)	`agtgcA/Ggtggt`	2	--	int¹		2		NA EA	122
rs76833240^1,2	F	--	18130693(+)	`GCCACC/TCATTT`	2	--	int¹		2		NA EA	240
rs13381500^1,2	H	--	18131442(+)	`GCTCAG/AAGGGC`	2	--	int¹		4		NS EA	420
rs13381512^1,2	H	--	18131626(+)	`TTTCAG/AACTTT`	2	--	int¹		4		NS EA	418
rs75774568^1,2	F	--	18133162(+)	`TGAAAC/TATTTT`	2	--	int¹		1		NA	120
rs79702875^1,2	C	--	18133437(-)	`TACGAT/CTCTTG`	2	--	int¹		3		NA	8
rs77603613^1,2	F	--	18134259(+)	`AAAGAC/TCCCTG`	2	--	int¹		1		WA	118
rs1613120^1,2	H	--	18134672(+)	`TGAATG/ATTGTC`	2	--	int¹		4		NS EA	420
rs16940247^1,2	C,F,H	--	18135805(+)	`GAAACC/TGTTGA`	2	--	int¹		11		NA NS EA WA CSA	680
rs77230046^1,2		--	18137011(+)	`GCCTAA/CCCTGT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LAMA3 (21269407 - 21519407 bp, first 250kb of LAMA3)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for LAMA3
1 CNV: 102610
1 Indel: 41508
Human Gene Mutation Database (HGMD): LAMA3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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LAMA3 for disorders           About GeneDecksing

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

Defects in LAMA3 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 LAMA3 are the cause of laryngoonychocutaneous syndrome (LOCS) [MIM:245660]. LOCS is an 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

20/41 diseases for LAMA3 (see all 41): About MalaCards

epidermolysis bullosa junctional epidermolysis bullosa epidermolysis bullosa acquisita spinal cord injury

malignant peripheral nerve sheath tumor cicatricial pemphigoid laryngoonychocutaneous syndrome crescentic glomerulonephritis

bullous pemphigoid congenital muscular dystrophy muscular dystrophy presbyopia

senile cataract skin disease myocardial infarction malignant glioma

endocervicitis cataract sjogren's syndrome glomerulonephritis

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

Epidermolysis bullosa Senile cataract Myopia Glaucoma

10/14 Novoseek 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

Junctional Epidermolysis Bullosa

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 9 sources (see all 161):
(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. (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. (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. (2003)
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. (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. (1998)
CREB-binding protein regulates apoptosis and growth of HMECs grown in reconstituted ECM via laminin-5. (PubMed id 16219677)^{1, 9} Dietze E.C....Seewaldt V.L. (2005)
Aberrant promoter methylation and silencing of laminin-5-encoding genes in breast carcinoma. (PubMed id 14695139)^{1, 9} Sathyanarayana U.G....Gazdar A.F. (2003)
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. (PubMed id 7633458)^{1, 9} Kivirikko S....Meneguzzi G. (1995)
Quantitative analysis of laminin 5 gene expression in human keratinocytes. (PubMed id 15854126)^{1, 9} Akutsu N....Nishiyama T. (2005)
A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. (PubMed id 8618022)^{1, 9} McGrath J.A....Uitto J. (1996)

(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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/sites/GeneTests/lab/gene/LAMA3

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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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
BM600-150kDa
Epiligrin
Kalinin-165kDa
Nicein-150kDa
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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