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COL6A3 (collagen, type VI, alpha 3)

Identity

Other names-
HGNC (Hugo) COL6A3
LocusID (NCBI) 1293
Location 2q37.3
Location_base_pair Starts at 238232655 and ends at 238322850 bp from pter ( according to hg19-Feb_2009)
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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

Nomenclature
HGNC (Hugo)COL6A3   2213
Cards
Entrez_Gene (NCBI)COL6A3  1293  collagen, type VI, alpha 3
GeneCards (Weizmann)COL6A3
Ensembl (Hinxton)ENSG00000163359 [Gene_View]  chr2:238232655-238322850 [Contig_View]  COL6A3 [Vega]
ICGC DataPortalENSG00000163359
cBioPortalCOL6A3
AceView (NCBI)COL6A3
Genatlas (Paris)COL6A3
WikiGenes1293
SOURCE (Princeton)NM_004369 NM_057164 NM_057165 NM_057166 NM_057167
Genomic and cartography
GoldenPath (UCSC)COL6A3  -  2q37.3   chr2:238232655-238322850 -  2q37.3   [Description]    (hg19-Feb_2009)
EnsemblCOL6A3 - 2q37.3 [CytoView]
Mapping of homologs : NCBICOL6A3 [Mapview]
OMIM120250   158810   254090   
Gene and transcription
Genbank (Entrez)AB209636 AK092021 AK303290 AK304870 AK308451
RefSeq transcript (Entrez)NM_004369 NM_057164 NM_057165 NM_057166 NM_057167
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008676 NT_005403 NW_001838870 NW_004929306
Consensus coding sequences : CCDS (NCBI)COL6A3
Cluster EST : UnigeneHs.233240 [ NCBI ]
CGAP (NCI)Hs.233240
Alternative Splicing : Fast-db (Paris)GSHG0018438
Alternative Splicing GalleryENSG00000163359
Gene ExpressionCOL6A3 [ NCBI-GEO ]     COL6A3 [ SEEK ]   COL6A3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12111 (Uniprot)
NextProtP12111  [Medical]
With graphics : InterProP12111
Splice isoforms : SwissVarP12111 (Swissvar)
Domaine pattern : Prosite (Expaxy)BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)    FN3 (PS50853)    VWFA (PS50234)   
Domains : Interpro (EBI)Collagen [organisation]   Fibronectin_type3 [organisation]   Ig-like_fold [organisation]   Prot_inh_Kunz-m [organisation]   Prtase_inh_Kunz-CS [organisation]   VWF_A [organisation]  
Related proteins : CluSTrP12111
Domain families : Pfam (Sanger)Collagen (PF01391)    Kunitz_BPTI (PF00014)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00014    pfam00092   
Domain families : Smart (EMBL)FN3 (SM00060)  KU (SM00131)  VWA (SM00327)  
DMDM Disease mutations1293
Blocks (Seattle)P12111
PDB (SRS)1KNT    1KTH    1KUN    2KNT   
PDB (PDBSum)1KNT    1KTH    1KUN    2KNT   
PDB (IMB)1KNT    1KTH    1KUN    2KNT   
PDB (RSDB)1KNT    1KTH    1KUN    2KNT   
Human Protein AtlasENSG00000163359 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP12111
HPRD00371
IPIIPI00022200   IPI00220701   IPI00072918   IPI00941465   IPI00072917   IPI00853061   IPI00946286   
Protein Interaction databases
DIP (DOE-UCLA)P12111
IntAct (EBI)P12111
FunCoupENSG00000163359
BioGRIDCOL6A3
InParanoidP12111
Interologous Interaction database P12111
IntegromeDBCOL6A3
STRING (EMBL)COL6A3
Ontologies - Pathways
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular region  proteinaceous extracellular matrix  collagen type VI trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  axon guidance  muscle organ development  negative regulation of endopeptidase activity  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  extracellular matrix  sarcolemma  extracellular vesicular exosome  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular region  proteinaceous extracellular matrix  collagen type VI trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  axon guidance  muscle organ development  negative regulation of endopeptidase activity  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  extracellular matrix  sarcolemma  extracellular vesicular exosome  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption   
Protein Interaction DatabaseCOL6A3
Wikipedia pathwaysCOL6A3
Gene fusion - rearrangments
Rearrangement : TICdbCOL6A3 [2q37.3]  -  CSF1 [10q24.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COL6A3
snp3D : Map Gene to Disease1293
SNP (GeneSNP Utah)COL6A3
SNP : HGBaseCOL6A3
Genetic variants : HAPMAPCOL6A3
Exome VariantCOL6A3
1000_GenomesCOL6A3 
ICGC programENSG00000163359 
Somatic Mutations in Cancer : COSMICCOL6A3 
CONAN: Copy Number AnalysisCOL6A3 
Mutations and Diseases : HGMDCOL6A3
Mutations and Diseases : intOGenCOL6A3
Genomic VariantsCOL6A3  COL6A3 [DGVbeta]
dbVarCOL6A3
ClinVarCOL6A3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM120250    158810    254090   
MedgenCOL6A3
GENETestsCOL6A3
Disease Genetic AssociationCOL6A3
Huge Navigator COL6A3 [HugePedia]  COL6A3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCOL6A3
Homology/Alignments : Family Browser (UCSC)COL6A3
Phylogenetic Trees/Animal Genes : TreeFamCOL6A3
Chemical/Protein Interactions : CTD1293
Chemical/Pharm GKB GenePA26729
Clinical trialCOL6A3
Cancer Resource (Charite)ENSG00000163359
Other databases
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
CoreMineCOL6A3
iHOPCOL6A3
OncoSearchCOL6A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:42:51 CEST 2014

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