Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COL11A2 (collagen, type XI, alpha 2)

Identity

Other namesDFNA13
DFNB53
FBCG2
HKE5
PARP
STL3
HGNC (Hugo) COL11A2
LocusID (NCBI) 1302
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
Entrez_Gene (NCBI)COL11A2  1302  collagen, type XI, alpha 2
Cards
GeneCards (Weizmann)COL11A2
Ensembl (Hinxton)ENSG00000204248 [Gene_View]  chr6:33154222-33160245 [Contig_View]  COL11A2 [Vega]
AceView (NCBI)COL11A2
Genatlas (Paris)COL11A2
SOURCE (Stanford)NM_001163771 NM_080679 NM_080680 NM_080681
Genomic and cartography
GoldenPath (UCSC)COL11A2  -  6p21.32   chr6:33154222-33160245 -  6p21.32   [Description]    (hg19-Feb_2009)
EnsemblCOL11A2 - 6p21.32 [CytoView]
Mapping of homologs : NCBICOL11A2 [Mapview]
OMIM120290   184840   215150   277610   601868   609706   614524   
Gene and transcription
Genbank (Entrez)AK130938 BC053886 J04974 L18987
RefSeq transcript (SRS)NM_001163771 NM_080679 NM_080680 NM_080681
RefSeq transcript (Entrez)NM_001163771 NM_080679 NM_080680 NM_080681
RefSeq genomic (SRS)AC_000138 NC_000006 NC_018917 NG_011589 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_001838980 NW_004078026
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_011589 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_001838980 NW_004078026
Consensus coding sequences : CCDS (NCBI)COL11A2
Cluster EST : UnigeneHs.390171 [ SRS ] Hs.390171 [ NCBI ]
CGAP (NCI)Hs.390171
Alternative Splicing : Fast-db (Paris)GSHG0026513
Alternative Splicing GalleryENSG00000204248
Gene ExpressionCOL11A2 [ NCBI-GEO ]   COL11A2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13942 (SRS) P13942 (Uniprot)
NextProtP13942
With graphics : InterProP13942
Splice isoforms : SwissVarP13942(Swissvar)
Domaine pattern : Prosite (SRS)LAM_G_DOMAIN (PS50025)    NC1_FIB (PS51461)   
Domaine pattern : Prosite (Expaxy)LAM_G_DOMAIN (PS50025)    NC1_FIB (PS51461)   
Domains : Interpro (SRS)Collagen    ConA-like_lec_gl_sf    ConA-like_subgrp    Fib_collagen_C    Laminin_G   
Domains : Interpro (EBI)Collagen    ConA-like_lec_gl_sf    ConA-like_subgrp    Fib_collagen_C    Laminin_G   
Related proteins : CluSTrP13942
Domain families : Pfam (SRS)COLFI (PF01410)    Collagen (PF01391)    Laminin_G_2 (PF02210)   
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)   
DMDM1302
Blocks (Seattle)P13942
Human Protein AtlasENSG00000204248
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
REACTOMECOL11A2
Protein Interaction Database1302
BioGRIDCOL11A2
InParanoidP13942
Interologous Interaction database P13942
IntegromeDBCOL11A2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COL11A2
SNP (GeneSNP Utah)COL11A2
SNP : HGBaseCOL11A2
Genetic variants : HAPMAPCOL11A2
Somatic Mutations in Cancer : COSMICCOL11A2 
CONAN: Copy Number AnalysisCOL11A2 
Mutations and Diseases : HGMDCOL11A2
OMIM120290    184840    215150    277610    601868    609706    614524   
GENETests120290    184840    215150    277610    601868    609706    614524   
Disease Genetic AssociationCOL11A2
Huge Navigator COL11A2 [HugePedia]  COL11A2 [HugeCancerGEM]
Genomic VariantsCOL11A2  COL11A2 [DGVbeta]
snp3D : Map Gene to Disease1302
General knowledge
Homologs : HomoloGeneCOL11A2
Homology/Alignments : Family Browser (UCSC)COL11A2
Phylogenetic Trees/Animal Genes : TreeFamCOL11A2
Chemical/Protein Interactions : CTD1302
Chemical/Pharm GKB GenePA26703
Clinical trialCOL11A2
Cancer Resource (Charite)ENSG00000204248
Ontology : AmiGOskeletal system development  skeletal system development  tissue homeostasis  chondrocyte differentiation  extracellular region  collagen type XI  endoplasmic reticulum lumen  sensory perception of sound  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  collagen fibril organization  protein binding, bridging  metal ion binding  skeletal system morphogenesis  cartilage development  palate development  soft palate development  
Ontology : EGO-EBIskeletal system development  skeletal system development  tissue homeostasis  chondrocyte differentiation  extracellular region  collagen type XI  endoplasmic reticulum lumen  sensory perception of sound  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  collagen fibril organization  protein binding, bridging  metal ion binding  skeletal system morphogenesis  cartilage development  palate development  soft palate development  
Pathways : KEGGECM-receptor interactionCell CommunicationFocal adhesion
Other databases
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
PubGeneCOL11A2
iHOPCOL11A2
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:23:15 CEST 2013
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.