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LAMC2 (laminin subunit gamma 2)

Identity

Alias_namesEBR2
LAMB2T
LAMNB2
EBR2A
laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))
laminin, gamma 2
Alias_symbol (synonym)nicein-100kDa
kalinin-105kDa
BM600-100kDa
HGNC (Hugo) LAMC2
LocusID (NCBI) 3918
Atlas_Id 41119
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 183155174 and ends at 183214262 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LAMC2 (1q25.3) / LAMC1 (1q25.3)LAMC2 (1q25.3) / LAMC2 (1q25.3)LAMC2 (1q25.3) / POC1B (12q21.33)
ZC3HAV1L (7q34) / LAMC2 (1q25.3)LAMC2 1q25.3 / POC1B 12q21.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LAMC2   6493
Cards
Entrez_Gene (NCBI)LAMC2  3918  laminin subunit gamma 2
AliasesB2T; BM600; CSF; EBR2; 
EBR2A; LAMB2T; LAMNB2
GeneCards (Weizmann)LAMC2
Ensembl hg19 (Hinxton)ENSG00000058085 [Gene_View]  chr1:183155174-183214262 [Contig_View]  LAMC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000058085 [Gene_View]  chr1:183155174-183214262 [Contig_View]  LAMC2 [Vega]
ICGC DataPortalENSG00000058085
TCGA cBioPortalLAMC2
AceView (NCBI)LAMC2
Genatlas (Paris)LAMC2
WikiGenes3918
SOURCE (Princeton)LAMC2
Genetics Home Reference (NIH)LAMC2
Genomic and cartography
GoldenPath hg19 (UCSC)LAMC2  -     chr1:183155174-183214262 +  1q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LAMC2  -     1q25.3   [Description]    (hg38-Dec_2013)
EnsemblLAMC2 - 1q25.3 [CytoView hg19]  LAMC2 - 1q25.3 [CytoView hg38]
Mapping of homologs : NCBILAMC2 [Mapview hg19]  LAMC2 [Mapview hg38]
OMIM150292   226650   226700   
Gene and transcription
Genbank (Entrez)AK296944 AK307945 BC112286 BC113378 BC143653
RefSeq transcript (Entrez)NM_005562 NM_018891
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_007079 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)LAMC2
Cluster EST : UnigeneHs.591484 [ NCBI ]
CGAP (NCI)Hs.591484
Alternative Splicing GalleryENSG00000058085
Gene ExpressionLAMC2 [ NCBI-GEO ]   LAMC2 [ EBI - ARRAY_EXPRESS ]   LAMC2 [ SEEK ]   LAMC2 [ MEM ]
Gene Expression Viewer (FireBrowse)LAMC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3918
GTEX Portal (Tissue expression)LAMC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13753   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13753  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13753
Splice isoforms : SwissVarQ13753
PhosPhoSitePlusQ13753
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_LAM_1 (PS01248)    EGF_LAM_2 (PS50027)    LAMININ_IVA (PS51115)   
Domains : Interpro (EBI)Laminin_EGF    Laminin_IV   
Domain families : Pfam (Sanger)Laminin_B (PF00052)    Laminin_EGF (PF00053)   
Domain families : Pfam (NCBI)pfam00052    pfam00053   
Domain families : Smart (EMBL)EGF_Lam (SM00180)  LamB (SM00281)  
Conserved Domain (NCBI)LAMC2
DMDM Disease mutations3918
Blocks (Seattle)LAMC2
SuperfamilyQ13753
Human Protein AtlasENSG00000058085
Peptide AtlasQ13753
HPRD01031
IPIIPI00015117   IPI00220572   IPI01012321   
Protein Interaction databases
DIP (DOE-UCLA)Q13753
IntAct (EBI)Q13753
FunCoupENSG00000058085
BioGRIDLAMC2
STRING (EMBL)LAMC2
ZODIACLAMC2
Ontologies - Pathways
QuickGOQ13753
Ontology : AmiGOextracellular region  laminin-2 complex  extracellular space  cell cortex  cell adhesion  heparin binding  epidermis development  membrane  extracellular matrix disassembly  extracellular matrix organization  hemidesmosome assembly  perinuclear region of cytoplasm  
Ontology : EGO-EBIextracellular region  laminin-2 complex  extracellular space  cell cortex  cell adhesion  heparin binding  epidermis development  membrane  extracellular matrix disassembly  extracellular matrix organization  hemidesmosome assembly  perinuclear region of cytoplasm  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Toxoplasmosis    Amoebiasis    Pathways in cancer    Small cell lung cancer   
NDEx NetworkLAMC2
Atlas of Cancer Signalling NetworkLAMC2
Wikipedia pathwaysLAMC2
Orthology - Evolution
OrthoDB3918
GeneTree (enSembl)ENSG00000058085
Phylogenetic Trees/Animal Genes : TreeFamLAMC2
HOVERGENQ13753
HOGENOMQ13753
Homologs : HomoloGeneLAMC2
Homology/Alignments : Family Browser (UCSC)LAMC2
Gene fusions - Rearrangements
Fusion : MitelmanLAMC2/POC1B [1q25.3/12q21.33]  
Fusion: TCGALAMC2 1q25.3 POC1B 12q21.33 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLAMC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LAMC2
dbVarLAMC2
ClinVarLAMC2
1000_GenomesLAMC2 
Exome Variant ServerLAMC2
ExAC (Exome Aggregation Consortium)LAMC2 (select the gene name)
Genetic variants : HAPMAP3918
Genomic Variants (DGV)LAMC2 [DGVbeta]
DECIPHER (Syndromes)1:183155174-183214262  ENSG00000058085
CONAN: Copy Number AnalysisLAMC2 
Mutations
ICGC Data PortalLAMC2 
TCGA Data PortalLAMC2 
Broad Tumor PortalLAMC2
OASIS PortalLAMC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLAMC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLAMC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LAMC2
DgiDB (Drug Gene Interaction Database)LAMC2
DoCM (Curated mutations)LAMC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LAMC2 (select a term)
intoGenLAMC2
Cancer3DLAMC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM150292    226650    226700   
Orphanet11428    11431    11430   
MedgenLAMC2
Genetic Testing Registry LAMC2
NextProtQ13753 [Medical]
TSGene3918
GENETestsLAMC2
Huge Navigator LAMC2 [HugePedia]
snp3D : Map Gene to Disease3918
BioCentury BCIQLAMC2
ClinGenLAMC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3918
Chemical/Pharm GKB GenePA30281
Clinical trialLAMC2
Miscellaneous
canSAR (ICR)LAMC2 (select the gene name)
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLAMC2
EVEXLAMC2
GoPubMedLAMC2
iHOPLAMC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:41:35 CET 2016

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