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Aliases & Descriptions for LAMA2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases LAMM 2 , 3 , 5 OTTHUMP00000017189 2
Descriptions Laminin M chain 3 Merosin heavy chain 2 , 3 laminin M 2 laminin alpha 2 subunit 2 laminin, alpha 2 2
Search outside databases for aliases for LAMA2 genePrevious GC identifers: GC06P128863 GC06P129051 GC06P129184
Summaries for LAMA2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for LAMA2 : Laminin, an extracellular protein, is a major component of the basement membrane. It is thought tomediate the attachment, migration, and organization of cells into tissues during embryonicdevelopment by interacting with other extracellular matrix components. It is composed of threesubunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into across-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunitsof laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified asthe cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encodingdifferent proteins have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043 Function : Binding to cells via a high affinity receptor, laminin is thought to mediate theattachment, migration and organization of cells into tissues during embryonic development byinteracting with other extracellular matrix components
Gene Wiki entry for LAMA2 (Laminin%2C_alpha_2)
Genomic Location for LAMA2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the LAMA2 gene Entrez Gene cytogenetic band: 6q22-q23 Ensembl cytogenetic band: 6q22.33 HGNC cytogenetic band: 6q22-q23 LAMA2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06P129246:
(about GC identifiers )
Start:
129,245,979 bp from pter
End:
129,879,404 bp from pter
Size:
633,426 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000006.10 NT_025741.14 Proteins for LAMA2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043 (See
protein sequence )Recommended Name: Laminin subunit alpha-2 precursor Size : 3122 amino acids; 343905 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-shapedmolecule comprising one long and three short arms with globules at each end. Alpha-2 is a subunitof laminin-2 (merosin) and laminin-4 (S-merosin)
Subcellular location : Secreted, extracellular space, extracellular matrix, basement membrane.Note=Major component
Sequence caution : Sequence=AAA63215.1; Type=Frameshift; Positions=3098; Sequence=AAB18388.1;Type=Erroneous gene model prediction; Sequence=CAA81394.1; Type=Frameshift; Positions=3098;
Secondary accessions : Q14736 Q5VUM2 Q93022
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000417.2 NP_001073291.1 ENSEMBL proteins: ENSP00000357133 ENSP00000350717 ENSP00000346769 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for LAMA2: Assays for LAMA2:
Protein
Domains/ Families for LAMA2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P24043 ProtoNet protein and cluster: P24043
5 Blocks protein families : IPB000034 Laminin B IPB001791 Laminin G IPB002049 Laminin-type EGF-like domain IPB009254 Laminin I IPB012679 Laminin G UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043 Domain : The alpha-helical domains I and II are thought to interact with other laminin chains toform a coiled coil structure Domain : Domains VI, IV and G are globularSimilarity : Contains 17 laminin EGF-like domainsSimilarity : Contains 5 laminin G-like domainsSimilarity : Contains 2 laminin IV type A domainsSimilarity : Contains 1 laminin N-terminal domain
Gene Function for LAMA2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001079823 Applied Biosystems Silencer ® siRNAs for LAMA2 Sigma-Aldrich siRNA and siRNA Panels for LAMA2 Sigma-Aldrich shRNA Panels and shRNA for LAMA2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000426                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000426                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000426  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000426 UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043 Function : Binding to cells via a high affinity receptor, laminin is thought to mediate theattachment, migration and organization of cells into tissues during embryonic development byinteracting with other extracellular matrix components
Genatlas biochemistry entry for LAMA2 :laminin,alpha 2 polypeptide,component of cutaneous basement membrane zone binding to alphadystroglycan,and coreceptor of mycobacterium leprae with alpha dystroglycan,heterotrimerizing(laminin 12) with laminin beta 1 and gamma 3
15 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Lama2) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for LAMA2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for LAMA2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for LAMA2 5/129 Interacting proteins for LAMA2 (ENSP00000350717 3 P24043 2 ) via UniProtKB, MINT, and/or STRING (see all 129
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0007517 muscle development
TAS 7550355 GO:0030155 regulation of cell adhesion
IEA -- GO:0030334 regulation of cell migration
IEA -- GO:0032224 positive regulation of synaptic transmission, cholinergic
IEA -- GO:0045995 regulation of embryonic development
IEA --
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Drugs & Compounds for LAMA2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for LAMA2 2 Novoseek chemical compound relationships for LAMA2 gene
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Transcripts for LAMA2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001079823 Sigma-Aldrich siRNA and siRNA Panels for LAMA2 Sigma-Aldrich shRNA Panels and shRNA for LAMA2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000426 NM_001079823
REFSEQ mRNAs for LAMA2 gene (2 alternative transcripts): NM_000426.3 NM_001079823.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000426 NM_001079823
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000426                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000426                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000426  
Additional cDNA sequence: AB208922.1 AK026829.1 AK125980.1 CR610868.1 M59832.1 Z26653.1
5 DOTS entries : DT.446525 DT.91942849 DT.100782167 DT.75198315 DT.86842259
24/128 AceView cDNA sequences (see all 128
):BM684683 CR610868 BX495567 CA421469 C02228 BX107745 R97795 AA344840 AI954438 BI492593 AA401563 AA412661 AW950665 BQ632400 BX501430 AW207845 AA442826 BX423896 T05624 AI636560 CD608518 CD106260 Z26653 BI761480
highest scoring ESTs for LAMA2 :Z26653 AA028205 AA034939 AA035722 AA135644 AA135707 AA182666 AA344840 AA344841 AA400308
Unigene Cluster for LAMA2: Laminin, alpha 2 Hs.200841 [show with all ESTs ] Unigene Representative Sequence: NM_000426 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations : ENST00000368151
ENST00000358023
ENST00000354729
Expression for LAMA2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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LAMA2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for LAMA2 1 / 2 / 3
9 probe-sets matching LAMA2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TACATAGAATSOURCE GeneReport for Unigene cluster: Hs.200841 Expression variation in blood from EXPOLDB for LAMA2
UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043 Tissue specificity : Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung,spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions ofthe brain; not in liver, thymus and bone
Orthologs for LAMA2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for LAMA2 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for LAMA2 ENSEMBL Gene Tree for LAMA2 Paralogs for LAMA2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for LAMA2 gene LAMA1 2
SNPs/Variants for LAMA2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for LAMA2 (up to first 250kb)
Disorders & Mutations for LAMA2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 156225 disorders : 607855 607855 UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043
Defects in LAMA2 are the cause of merosin-deficient congenital muscular dystrophy type 1A(MDC1A) [MIM:607855]. MDC1A is characterized by difficulty walking, hypotonia, proximal weakness,hyporeflexia, and white matter hypodensity on MRI
10/30 Novoseek disease relationships for LAMA2 gene (see all 30
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
mdc1a
97.20
22
18700894 (3), 19388593 (2), 17949279 (2), 17438294 (2) (see all 13 )
muscular dystrophies
95.62
148
12609502 (5), 7477753 (4), 9444358 (3), 9541105 (3) (see all 88 )
fukuyama congenital muscular dystrophy
92.53
7
9631397 (1), 16566880 (1), 10222457 (1), 10738921 (1) (see all 7 )
walker-warburg syndrome
89.07
8
7477753 (3), 8542045 (1), 9492098 (1), 9660506 (1) (see all 6 )
muscle-eye-brain disease
87.92
5
8542045 (1), 11592034 (1), 11053679 (1), 8879654 (1) (see all 5 )
mdc1c
85.85
1
11741828 (1)
lgmd2i
84.12
2
18645206 (2)
muscular dystrophy limb-girdle
77.83
4
9829280 (1), 19258295 (1), 11584042 (1)
limb girdle
74.50
2
16566880 (1), 11077661 (1)
muscular dystrophy duchenne
68.53
3
17438294 (1), 9390664 (1), 16487936 (1)
About this table Human Gene Mutation Database : LAMA2 Genetic Association Database: LAMA2 Human Genome Epidemiology Navigator: LAMA2 (1 document)
Medical News for LAMA2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for LAMA2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/197 PubMed articles for LAMA2 gene (see all 197
): Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. (PubMed id 8294519) 1, 2, 3, 4 Vuolteenaho R....Tryggvason K. (1994) Merosin, a tissue-specific basement membrane protein, is a laminin- like protein. (PubMed id 2185464) 2, 3, 4 Ehrig K.... Engvall E. (1990) Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha-2 (LAMA2) deficiency. (PubMed id 12552556) 1, 3, 4 Tezak Z.... Pegoraro E. (2003) Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: molecular study. (PubMed id 11591858) 1, 3, 4 He Y....Guicheney P. (2001) Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. (PubMed id 8910357) 1, 3, 4 Zhang X.... Tryggvason K. (1996) Human laminin M chain: epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression. (PubMed id 7535762) 1, 3, 4 Hori H.... Nagai Y. (1994) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 3, 4 Liu T.... Smith R.D. (2005) Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients. (PubMed id 12100448) 3, 6 Wibawa T....Matsuo M. (2002) LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. (PubMed id 16216942) 1, 3 Di Blasi C....Mora M. (2005) The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. (PubMed id 11584042) 1, 3 Jones K.J....North K.N. (2001)
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Genome Databases showing LAMA2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing LAMA2
(According to HUGE )
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Specialized Databases showing LAMA2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for LAMA2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Incremental update: 13 Oct 2009