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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMA5 Gene

protein-coding GIFtS: 60
GCID: GC20M060883

laminin, alpha 5

Explore 34 diseases affiliated with
LAMA5 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 5¹ ²		Laminin Alpha-5 Chain²
Laminin-10 Subunit Alpha² ³		Laminin Subunit Alpha-5²
Laminin-11 Subunit Alpha² ³		KIAA0533³
Laminin-15 Subunit Alpha² ³		KIAA1907³

External Ids:	HGNC: 6485¹	Entrez Gene: 3911²	Ensembl: ENSG00000130702⁷	OMIM: 601033⁵	UniProtKB: O15230³

Export aliases for LAMA5 gene to outside databases

Previous GC identifers: GC20M060647 GC20M061523 GC20M061569 GC20M060317 GC20M057659

(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 LAMA5:

Components of the extracellular matrix exert myriad effects on tissues throughout the body. In particular, the

laminins, a family of heterotrimeric extracellular glycoproteins, affect tissue development and integrity in such

diverse organs as the kidney, lung, skin, and nervous system. It is thought that laminins mediate the attachment,

migration, and organization of cells into tissues during embryonic development by interacting with other extracellular

matrix components. Laminins function as heterotrimeric complexes of alpha, beta, and gamma chains, with each chain

type representing a different subfamily of proteins. The protein encoded by this gene belongs to the alpha subfamily

of laminin chains and is a major component of basement membranes. Two transcript variants encoding different isoforms

have been found for this gene, but the full-length nature of one of them has not been determined. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230

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 LAMA5 (Laminin, alpha 5)

(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_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LAMA5 gene promoter:
Max1 GR GR-beta AP-2gamma CREB AP-2beta GR-alpha AP-2alpha AP-2alphaA c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LAMA5 promoter sequence

Search SABiosciences Chromatin IP Primers for LAMA5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMA5

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

Entrez Gene cytogenetic band: 20q13.2-q13.3 Ensembl cytogenetic band: 20q13.33 HGNC cytogenetic band: 20q13.2-q13.3

LAMA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMA5 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M060883: view genomic region (about GC identifiers)

Start:	60,883,011 bp from pter	End:	60,942,368 bp from pter
Size:	59,358 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230 (See protein sequence)

Recommended Name: Laminin subunit alpha-5 precursor

Size: 3695 amino acids; 399737 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-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15

(laminin-523)

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

Sequence caution: Sequence=CAC22310.1; Type=Erroneous gene model prediction;

Secondary accessions: Q8TDF8 Q8WZA7 Q9H1P1

Explore the universe of human proteins at neXtProt for LAMA5: NX_O15230

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15230

LAMA5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005551.3

ENSEMBL proteins:

ENSP00000433260 ENSP00000252999 ENSP00000420069 ENSP00000359711 ENSP00000359726

Human Recombinant Protein Products:

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	Novus Biologicals LAMA5 Proteins Novus Biologicals LAMA5 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	--	--
GO:0005604	basement membrane	IDA	14557481
GO:0005605	basal lamina	NAS	11821406
GO:0005606	laminin-1 complex	IEA	--

LAMA5 for ontologies About GeneDecksing

LAMA5 Antibody Products:

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	ThermoFisher Antibodies for LAMA5

Assay Products for LAMA5:

	Browse Kits and Assays available from EMD Millipore
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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

LAMA5 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 O15230

ProtoNet protein and cluster: O15230

5/6 Blocks protein families (see all 6):

IPB000034 Laminin B

IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

IPB001638 Bacterial extracellular solute-binding protein

IPB001791 Laminin G

IPB002049 Laminin-type EGF-like domain

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230

Domain: Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin

heterotrimer

Similarity: Contains 22 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230

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 LAMA5:

laminin 5 (kalinin/nicein) alpha 5 polypeptide,component of basement membrane zone,expressed in

placenta,heart,lung,skeletal muscle,kidney,pancreas

miRNA Products:		OriGene 3'-UTR Clone: LAMA5 Browse MicroRNA Expression Plasmids
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Gene Editing
Products:

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LAMA5
		Search LifeMap BioReagents cell lines for LAMA5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA5

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005178	integrin binding	IDA	11821406
GO:0005198	structural molecule activity	IC	11821406
GO:0005515	protein binding	--	--

LAMA5 for ontologies About GeneDecksing

Animal Models:
15/16 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Lama5) (see all 16):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	homeostasis/metabolism	immune system	limbs/digits/tail
mortality/aging	nervous system	other	renal/urinary system	respiratory system

LAMA5 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) 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

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Focal Adhesion

Focal Adhesion

1.00

Focal adhesion

0.66

Alpha6-Beta4 Integrin Signaling Pathway

Alpha6-Beta4 Integrin Signaling Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMA5 (see all 14)

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

4 BioSystems Pathways for LAMA5

	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway
	Inflammatory Response Pathway
	Syndecan-1-mediated signaling events

5/6 Kegg Pathways (Kegg details for LAMA5) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis
	Pathways in cancer

LAMA5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LAMA5

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

5/62 Interacting proteins for LAMA5 (O15230^{2, 3} ENSP00000252999⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 62)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATF7IP	Q6VMQ6²^,³	MINT-61923 I2D: score=3
SMAD2	Q15796²^,³	MINT-60924 I2D: score=3
BTBD10	Q9BSF8³, ENSP00000278174⁴	I2D: score=3 STRING: ENSP00000278174
LAMB1	P07942³, ENSP00000222399⁴	I2D: score=2 STRING: ENSP00000222399
CRKL	P46109³, ENSP00000346300⁴	I2D: score=1 STRING: ENSP00000346300

About this table

Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	NAS	11821406
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	--
GO:0001738	morphogenesis of a polarized epithelium	IEA	--
GO:0001755	neural crest cell migration	IEA	--
GO:0001942	hair follicle development	IEA	--

LAMA5 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

LAMA5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMA5
4 Novoseek chemical compound relationships for LAMA5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
heparan sulfate	26.1	1	16288042 (1)
carbohydrates	8.92	1	9764838 (1)
heparin	7.44	3	12147593 (2), 10799535 (1)
vegf	0	2	12691260 (1), 15936333 (1)

Search CenterWatch for drugs/clinical trials and news about LAMA5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LAMA5 gene:

NM_005560.3

Unigene Cluster for LAMA5:

Laminin, alpha 5

Hs.473256 [show with all ESTs]

Unigene Representative Sequence: NM_005560

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

ENST00000492698 ENST00000370691 ENST00000252999(uc002ycq.3 uc021wfw.1)

ENST00000495695 ENST00000462415 ENST00000491036 ENST00000468786 ENST00000471042

ENST00000481120 ENST00000464134 ENST00000497363 ENST00000474128 ENST00000370677

ENST00000497053 ENST00000370692

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LAMA5 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LAMA5 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: LAMA5 (NM_005560)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMA5

Additional cDNA sequence:

AB010099.1 AB011105.1 AB067494.1 AF443072.1 AK074307.1 BC085017.1 Z95636.1

24/35 DOTS entries (see all 35):

DT.452843 DT.92442493 DT.95299760 DT.95299749 DT.95299753 DT.208870 DT.100018633 DT.91681848

DT.120811692 DT.120811631 DT.120811700 DT.97772426 DT.75100049 DT.92047817 DT.102838035 DT.120811708

DT.95299751 DT.100804290 DT.100639822 DT.100877859 DT.91650621 DT.91678919 DT.92442495 DT.95290538

24/297 AceView cDNA sequences (see all 297):

CA455127 AB067494 BM741212 BQ940768 AI434880 AI026737 BC003355 AI199493

AW182720 BQ941656 AB011105 AW016122 AI536942 AL844373 AA344756 BE563107

CB850893 AL844369 CD674328 AU125545 BU152665 BG820444 CF455778 AI582832

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for LAMA5 (see all 17) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21a	·	21b	^	22	^	23	^	24	^
SP1:															-
SP2:
SP3:
SP4:
SP5:

ExUns:	25	^	26	^	27	^	28a	·	28b	^	29a	·	29b	^	30	^	31	^	32	^	33	^	34	^	35a	·	35b	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43a	·	43b	^	44	^	45	^	46	^
SP1:													-																														-
SP2:
SP3:
SP4:
SP5:

ExUns:	47	^	48	^	49	^	50	^	51	^	52	^	53	^	54	^	55	^	56	^	57	^	58	^	59a	·	59b	^	60a	·	60b	^	61a	·	61b	·	61c	^	62a	·	62b	^	63a	·	63b	^	64a	·	64b	^	65	^
SP1:																									-								-																-
SP2:																																																	-
SP3:
SP4:
SP5:

ExUns:	66a	·	66b	^	67a	·	67b	^	68	^	69	^	70	^	71	^	72a	·	72b	·	72c	^	73	^	74a	·	74b	^	75	^	76	^	77	^	78a	·	78b	^	79	^	80a	·	80b	·	80c	^	81	^	82a	·	82b	^
SP1:																	-										-														-										-
SP2:					-		-										-										-												-		-										-
SP3:
SP4:
SP5:																	-

ECgene alternative splicing isoforms for LAMA5

(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

LAMA5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTCGCTCTG

About this image

LAMA5 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)

Trophoblast

Mural Trophectoderm

Mural Trophectoderm Cells

Extraembryonic Tissues

Kidney

Ureteric Bud

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

See LAMA5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMA5

SOURCE GeneReport for Unigene cluster: Hs.473256

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230

Tissue specificity: Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no

expression in brain and liver

SABiosciences Custom PCR Arrays for LAMA5

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMA5

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA5

(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 LAMA5 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LAMA5¹	laminin, alpha 5	66.06(n) 61.63(a)		428148 XM_003642458.1 XP_003642506.1
lizard (Anolis carolinensis)	Reptilia	LAMA5⁶ NTN5⁶ (see all 3)	--	62(a) 6(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	4(151021980-151120606) 4(150989811-151019232)
zebrafish (Danio rerio)	Actinopterygii	lama5¹	laminin, alpha 5	57.56(n) 50.65(a)		321243 NM_001039171.1 NP_001034260.1
fruit fly (Drosophila melanogaster)	Insecta	LanA^{1 , 3}	female meiosis chromosome segregation³ Laminin A¹	33(a)³ 46.86(n)¹ 35.17(a)¹		38723¹ NM_057269.2¹ NP_476617.1¹
worm (Caenorhabditis elegans)	Secernentea	epi-1^{1 , 3}	laminin³ Protein EPI-1¹	32(a)³ 42.6(n)¹ 34.61(a)¹		IV(10667008-10679377)³ 177956¹ NM_001028111.2¹ NP_001023282.1¹

ENSEMBL Gene Tree for LAMA5 (if available)
TreeFam Gene Tree for LAMA5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for LAMA5 gene

NTN4² LAMA1² NTN5² LAMA3² LAMA2² LAMB2² LAMC1² LAMC2²

NTN3² LAMB3² LAMC3² LAMA4² NTN1² NTNG1² USH2A² NTNG2²

LAMB1² LAMB4²

18/29 SIMAP similar genes for LAMA5 using alignment to 7 protein entries: LAMA5_HUMAN (see all proteins) (see all similar genes):

FAM3A ATL2 C11orf80 SUN3 C12orf23 COX7A2

UTY FAM96A NSD1 SENP7 WDR6 IFT122

LRTOMT MKRN1 DAPK2 FANCA PSD3 IPO7

LAMA5 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 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs57903112^1,2	F,	--	57673338(+)	`GGGCCG/AGTGGA`	1	--	int¹		1		WA	118
rs113956612^1,2	C,F,	--	60883661(+)	`ATCCCC/AAGTTC`	3	--	ds500¹ int¹		3		CSA WA	122
rs200378442^1,2		--	60883823(+)	`GCCACA/GCGCCG`	3	--	ut3¹ ds500¹		0	--	--	--	--
rs199633453^1,2		--	60883843(+)	`GAACTA/GGGCGC`	3	--	ut3¹ ds500¹		0	--	--	--	--
rs147591826^1,2		--	60883881(+)	`CCACC-/CACT GATTA`	3	--	ds500¹ ut3¹		0	--	--	--	--
rs142027985^1,2	C,	--	60883914(+)	`ACCTG-/CCCAAT`	3	--	ut3¹ ds500¹		0	--	--	--	--
rs113310472^1,2	C	--	60883916(+)	`CCTGCA/C/GAATGC`	5	--	ds500¹ ut3¹		1		CSA	1
rs2427279^1,2	C,F,H,	--	60883919(+)	`GCCAAC/TGCTTA`	3	--	ds500¹		12		NS NA WA CSA	307
rs192854636^1,2		--	60883938(+)	`GCCCAA/GAGGGA`	3	--	ds500¹		0	--	--	--	--
rs182582515^1,2		--	60884018(+)	`AACAAC/TGGAAA`	3	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LAMA5 (60883011 - 60942368 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 17 variations for LAMA5
15/16 CNVs (see all 16): 5347 30131 35937 53671 10589 6127 4106 29710 50707 50706 10588 30130 30129 103021 29709
1 Indel: 40467
Human Gene Mutation Database (HGMD): LAMA5

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LAMA5

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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.)
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LAMA5 for disorders           About GeneDecksing

OMIM gene information: 601033    OMIM disorders: --

20/34 diseases for LAMA5 (see all 34):    About MalaCards

pontocerebellar hypoplasia muscular dystrophy polycythemia vera congenital muscular dystrophy

polycystic kidney disease alport syndrome basal cell carcinoma chronic lymphocytic leukemia

polycythemia lymphocytic leukemia hirschsprung's disease kidney disease

syndactyly squamous cell carcinoma toxoplasmosis gout

carcinoma choriocarcinoma hepatocellular carcinoma ovarian carcinoma

4 Novoseek disease relationships for LAMA5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
muscular dystrophies	57.6	1	9353324 (1)
metastasis	0	1	16288042 (1)
tumors	0	2	9624186 (1), 18635166 (1)
carcinoma	0	4	17265066 (2), 12691260 (1)

Human Genome Epidemiology (HuGE) Navigator: LAMA5 (4 documents)

Export disorders for LAMA5 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 LAMA5 gene, integrated from 9 sources (see all 136):
(articles sorted by number of sources associating them with LAMA5)

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

Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation. (PubMed id 9271224)^{1, 2, 3, 9} Durkin M.E....Wewer U.M. (1997)
Recombinant human laminin-10 (alpha5beta1gamma1). Production, purification, and migration-promoting activity on vascular endothelial cells. (PubMed id 11821406)^{1, 2} Doi M.... Tryggvason K. (2002)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)^{1, 2} Nagase T....Ohara O. (2001)
Laminin expression in adult and developing retinae: evidence of two novel CNS laminins. (PubMed id 10964957)^{1, 2} Libby R.T.... Brunken W.J. (2000)
Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)^{1, 2} Nagase T....Ohara O. (1998)
Laminin alpha 5 mediates ectopic adhesion of hepatocellular carcinoma through integrins and/or Lutheran/basal cell adhesion molecule. (PubMed id 18635166)^{1, 9} Kikkawa Y....Mitaka T. (2008)
[Correlation between ultrastructural changes of glome rular basement membrane and abnormal distribution of laminins in patients with Alport's syndrome] (PubMed id 20019771)^{1, 9} Huang W....Liu G. (2009)
Mesangial cells organize the glomerular capillaries by adhering to the G domain of laminin alpha5 in the glomerular basement membrane. (PubMed id 12682087)^{1, 9} Kikkawa Y....Miner J.H. (2003)
Laminin-10 and Lutheran blood group glycoproteins in adhesion of human endothelial cells. (PubMed id 16236823)^{1, 9} Vainionpaa N....Virtanen I. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3911	HGNC: 6485	AceView: LAMA5	Ensembl:ENSG00000130702	euGenes: HUgn3911
ECgene: LAMA5	Kegg: 3911	H-InvDB: LAMA5

(According to HUGE)
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HUGE: KIAA0533 KIAA1907

(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 LAMA5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LAMA5 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 LAMA5 gene:
Search GeneIP for patents involving LAMA5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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LAMA5 Gene

laminin, alpha 5

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