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COL11A2 (collagen type XI alpha 2)

Identity

Other namesDFNA13
DFNB53
FBCG2
HKE5
PARP
STL3
HGNC (Hugo) COL11A2
LocusID (NCBI) 1302
Atlas_Id 46030
Location 6p21.32
Location_base_pair Starts at 33154222 and ends at 33160245 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

 


External links

Nomenclature
HGNC (Hugo)COL11A2   2187
Cards
Entrez_Gene (NCBI)COL11A2  1302  collagen type XI alpha 2
GeneCards (Weizmann)COL11A2
Ensembl hg19 (Hinxton)ENSG00000204248 [Gene_View]  chr6:33154222-33160245 [Contig_View]  COL11A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204248 [Gene_View]  chr6:33154222-33160245 [Contig_View]  COL11A2 [Vega]
ICGC DataPortalENSG00000204248
TCGA cBioPortalCOL11A2
AceView (NCBI)COL11A2
Genatlas (Paris)COL11A2
WikiGenes1302
SOURCE (Princeton)COL11A2
Genomic and cartography
GoldenPath hg19 (UCSC)COL11A2  -     chr6:33154222-33160245 -  6p21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL11A2  -     6p21.32   [Description]    (hg38-Dec_2013)
EnsemblCOL11A2 - 6p21.32 [CytoView hg19]  COL11A2 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBICOL11A2 [Mapview hg19]  COL11A2 [Mapview hg38]
OMIM120290   184840   215150   277610   601868   609706   614524   
Gene and transcription
Genbank (Entrez)AK130938 BC053886 J04974 L18987
RefSeq transcript (Entrez)NM_001163771 NM_080679 NM_080680 NM_080681
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_011589 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_004929326
Consensus coding sequences : CCDS (NCBI)COL11A2
Cluster EST : UnigeneHs.390171 [ NCBI ]
CGAP (NCI)Hs.390171
Alternative Splicing : Fast-db (Paris)GSHG0026513
Alternative Splicing GalleryENSG00000204248
Gene ExpressionCOL11A2 [ NCBI-GEO ]   COL11A2 [ EBI - ARRAY_EXPRESS ]   COL11A2 [ SEEK ]   COL11A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL11A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1302
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13942 (Uniprot)
NextProtP13942  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13942
Splice isoforms : SwissVarP13942 (Swissvar)
PhosPhoSitePlusP13942
Domaine pattern : Prosite (Expaxy)NC1_FIB (PS51461)   
Domains : Interpro (EBI)Collagen    ConA-like_dom    Fib_collagen_C    Laminin_G   
Domain families : Pfam (Sanger)COLFI (PF01410)    Collagen (PF01391)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam01410    pfam01391    pfam02210   
Domain families : Smart (EMBL)COLFI (SM00038)  LamG (SM00282)  TSPN (SM00210)  
Domain structure : Prodom (Prabi Lyon)Fib_collagen_C (PD002078)   
DMDM Disease mutations1302
Blocks (Seattle)COL11A2
SuperfamilyP13942
Human Protein AtlasENSG00000204248
Peptide AtlasP13942
HPRD00376
IPIIPI00011283   IPI00219922   IPI00219923   IPI00219924   IPI00219925   IPI00937105   IPI00219927   IPI00413940   IPI01021913   IPI00894004   IPI01021044   IPI01022366   IPI01022739   IPI01020835   IPI01021388   IPI01022167   IPI01022040   IPI01021463   IPI00939336   IPI01021923   IPI01021679   IPI01020718   IPI01022871   IPI01020710   IPI00893615   IPI01021833   IPI00873136   IPI00893705   IPI00894020   IPI00893855   IPI00748259   IPI00893756   
Protein Interaction databases
DIP (DOE-UCLA)P13942
IntAct (EBI)P13942
FunCoupENSG00000204248
BioGRIDCOL11A2
STRING (EMBL)COL11A2
ZODIACCOL11A2
Ontologies - Pathways
QuickGOP13942
Ontology : AmiGOskeletal system development  skeletal system development  protein binding  extracellular region  collagen type XI trimer  endoplasmic reticulum lumen  sensory perception of sound  extracellular matrix structural constituent conferring tensile strength  collagen fibril organization  collagen catabolic process  protein binding, bridging  metal ion binding  cartilage development  palate development  soft palate development  
Ontology : EGO-EBIskeletal system development  skeletal system development  protein binding  extracellular region  collagen type XI trimer  endoplasmic reticulum lumen  sensory perception of sound  extracellular matrix structural constituent conferring tensile strength  collagen fibril organization  collagen catabolic process  protein binding, bridging  metal ion binding  cartilage development  palate development  soft palate development  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
NDEx Network
Atlas of Cancer Signalling NetworkCOL11A2
Wikipedia pathwaysCOL11A2
Orthology - Evolution
OrthoDB1302
GeneTree (enSembl)ENSG00000204248
Phylogenetic Trees/Animal Genes : TreeFamCOL11A2
Homologs : HomoloGeneCOL11A2
Homology/Alignments : Family Browser (UCSC)COL11A2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCOL11A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL11A2
dbVarCOL11A2
ClinVarCOL11A2
1000_GenomesCOL11A2 
Exome Variant ServerCOL11A2
ExAC (Exome Aggregation Consortium)COL11A2 (select the gene name)
SNP (GeneSNP Utah)COL11A2
SNP : HGBaseCOL11A2
Genetic variants : HAPMAPCOL11A2
Genomic Variants (DGV)COL11A2 [DGVbeta]
Mutations
ICGC Data PortalCOL11A2 
TCGA Data PortalCOL11A2 
Broad Tumor PortalCOL11A2
OASIS PortalCOL11A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL11A2 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COL11A2
DgiDB (Drug Gene Interaction Database)COL11A2
DoCM (Curated mutations)COL11A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL11A2 (select a term)
intoGenCOL11A2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:33154222-33160245
CONAN: Copy Number AnalysisCOL11A2 
Mutations and Diseases : HGMDCOL11A2
OMIM120290    184840    215150    277610    601868    609706    614524   
MedgenCOL11A2
Genetic Testing Registry COL11A2
NextProtP13942 [Medical]
TSGene1302
GENETestsCOL11A2
Huge Navigator COL11A2 [HugePedia]  COL11A2 [HugeCancerGEM]
snp3D : Map Gene to Disease1302
BioCentury BCIQCOL11A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1302
Chemical/Pharm GKB GenePA26703
Clinical trialCOL11A2
Miscellaneous
canSAR (ICR)COL11A2 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL11A2
GoPubMedCOL11A2
iHOPCOL11A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:40:43 CEST 2016

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