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COL6A2 (collagen, type VI, alpha 2)

Identity

Alias_namescollagen type VI alpha 2
Other aliasPP3610
HGNC (Hugo) COL6A2
LocusID (NCBI) 1292
Atlas_Id 61996
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 47518033 and ends at 47552763 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACNA1H (16p13.3) / COL6A2 (21q22.3)CAPN6 (Xq23) / COL6A2 (21q22.3)COL6A2 (21q22.3) / CAND2 (3p25.2)
COL6A2 (21q22.3) / COL6A2 (21q22.3)COL6A2 (21q22.3) / DDX27 (20q13.13)COL6A2 (21q22.3) / ELK3 (12q23.1)
COL6A2 (21q22.3) / FOXP1 (3p13)PAPOLA (14q32.2) / COL6A2 (21q22.3)STEAP2 (7q21.13) / COL6A2 (21q22.3)
TMCO6 (5q31.3) / COL6A2 (21q22.3)

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)COL6A2   2212
LRG (Locus Reference Genomic)LRG_476
Cards
Entrez_Gene (NCBI)COL6A2  1292  collagen, type VI, alpha 2
AliasesPP3610
GeneCards (Weizmann)COL6A2
Ensembl hg19 (Hinxton)ENSG00000142173 [Gene_View]  chr21:47518033-47552763 [Contig_View]  COL6A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142173 [Gene_View]  chr21:47518033-47552763 [Contig_View]  COL6A2 [Vega]
ICGC DataPortalENSG00000142173
TCGA cBioPortalCOL6A2
AceView (NCBI)COL6A2
Genatlas (Paris)COL6A2
WikiGenes1292
SOURCE (Princeton)COL6A2
Genetics Home Reference (NIH)COL6A2
Genomic and cartography
GoldenPath hg19 (UCSC)COL6A2  -     chr21:47518033-47552763 +  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL6A2  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblCOL6A2 - 21q22.3 [CytoView hg19]  COL6A2 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBICOL6A2 [Mapview hg19]  COL6A2 [Mapview hg38]
OMIM120240   158810   254090   255600   
Gene and transcription
Genbank (Entrez)AF218010 AI275476 AK093995 AK128695 AL044156
RefSeq transcript (Entrez)NM_001849 NM_058174 NM_058175
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_008675 NT_011512 NW_004929427
Consensus coding sequences : CCDS (NCBI)COL6A2
Cluster EST : UnigeneHs.420269 [ NCBI ]
CGAP (NCI)Hs.420269
Alternative Splicing GalleryENSG00000142173
Gene ExpressionCOL6A2 [ NCBI-GEO ]   COL6A2 [ EBI - ARRAY_EXPRESS ]   COL6A2 [ SEEK ]   COL6A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL6A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1292
GTEX Portal (Tissue expression)COL6A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12110   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12110  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12110
Splice isoforms : SwissVarP12110
PhosPhoSitePlusP12110
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Collagen    VWF_A   
Domain families : Pfam (Sanger)Collagen (PF01391)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00092   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)COL6A2
DMDM Disease mutations1292
Blocks (Seattle)COL6A2
SuperfamilyP12110
Human Protein AtlasENSG00000142173
Peptide AtlasP12110
HPRD02110
IPIIPI00304840   IPI00220613   IPI00073454   IPI00828201   IPI00983601   IPI00915389   IPI00796708   
Protein Interaction databases
DIP (DOE-UCLA)P12110
IntAct (EBI)P12110
FunCoupENSG00000142173
BioGRIDCOL6A2
STRING (EMBL)COL6A2
ZODIACCOL6A2
Ontologies - Pathways
QuickGOP12110
Ontology : AmiGOprotein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  collagen trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  axon guidance  response to glucose  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  extracellular matrix  sarcolemma  protein complex  extracellular exosome  protein heterotrimerization  extracellular vesicle  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  collagen trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  axon guidance  response to glucose  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  extracellular matrix  sarcolemma  protein complex  extracellular exosome  protein heterotrimerization  extracellular vesicle  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption   
NDEx NetworkCOL6A2
Atlas of Cancer Signalling NetworkCOL6A2
Wikipedia pathwaysCOL6A2
Orthology - Evolution
OrthoDB1292
GeneTree (enSembl)ENSG00000142173
Phylogenetic Trees/Animal Genes : TreeFamCOL6A2
HOVERGENP12110
HOGENOMP12110
Homologs : HomoloGeneCOL6A2
Homology/Alignments : Family Browser (UCSC)COL6A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL6A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL6A2
dbVarCOL6A2
ClinVarCOL6A2
1000_GenomesCOL6A2 
Exome Variant ServerCOL6A2
ExAC (Exome Aggregation Consortium)COL6A2 (select the gene name)
Genetic variants : HAPMAP1292
Genomic Variants (DGV)COL6A2 [DGVbeta]
DECIPHER (Syndromes)21:47518033-47552763  ENSG00000142173
CONAN: Copy Number AnalysisCOL6A2 
Mutations
ICGC Data PortalCOL6A2 
TCGA Data PortalCOL6A2 
Broad Tumor PortalCOL6A2
OASIS PortalCOL6A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL6A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL6A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COL6A2
DgiDB (Drug Gene Interaction Database)COL6A2
DoCM (Curated mutations)COL6A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL6A2 (select a term)
intoGenCOL6A2
Cancer3DCOL6A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120240    158810    254090    255600   
Orphanet367    20719    11094   
MedgenCOL6A2
Genetic Testing Registry COL6A2
NextProtP12110 [Medical]
TSGene1292
GENETestsCOL6A2
Huge Navigator COL6A2 [HugePedia]
snp3D : Map Gene to Disease1292
BioCentury BCIQCOL6A2
ClinGenCOL6A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1292
Chemical/Pharm GKB GenePA26728
Clinical trialCOL6A2
Miscellaneous
canSAR (ICR)COL6A2 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL6A2
EVEXCOL6A2
GoPubMedCOL6A2
iHOPCOL6A2
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 : Tue Mar 14 11:59:59 CET 2017

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