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COL8A2 (collagen type VIII alpha 2 chain)

Identity

Alias_namesFECD
collagen, type VIII, alpha 2
collagen type VIII alpha 2
Alias_symbol (synonym)PPCD
FECD1
PPCD2
Other alias
HGNC (Hugo) COL8A2
LocusID (NCBI) 1296
Atlas_Id 56509
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 36560837 and ends at 36590685 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL8A2 (1p34.3) / FHAD1 (1p36.21)EPHA10 (1p34.3) / COL8A2 (1p34.3)FHAD1 (1p36.21) / COL8A2 (1p34.3)

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)COL8A2   2216
Cards
Entrez_Gene (NCBI)COL8A2  1296  collagen type VIII alpha 2 chain
AliasesFECD; FECD1; PPCD; PPCD2
GeneCards (Weizmann)COL8A2
Ensembl hg19 (Hinxton)ENSG00000171812 [Gene_View]  chr1:36560837-36590685 [Contig_View]  COL8A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171812 [Gene_View]  chr1:36560837-36590685 [Contig_View]  COL8A2 [Vega]
ICGC DataPortalENSG00000171812
TCGA cBioPortalCOL8A2
AceView (NCBI)COL8A2
Genatlas (Paris)COL8A2
WikiGenes1296
SOURCE (Princeton)COL8A2
Genetics Home Reference (NIH)COL8A2
Genomic and cartography
GoldenPath hg19 (UCSC)COL8A2  -     chr1:36560837-36590685 -  1p34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL8A2  -     1p34.3   [Description]    (hg38-Dec_2013)
EnsemblCOL8A2 - 1p34.3 [CytoView hg19]  COL8A2 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBICOL8A2 [Mapview hg19]  COL8A2 [Mapview hg38]
OMIM120252   136800   609140   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001294347 NM_005202
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL8A2
Cluster EST : UnigeneHs.353001 [ NCBI ]
CGAP (NCI)Hs.353001
Alternative Splicing GalleryENSG00000171812
Gene ExpressionCOL8A2 [ NCBI-GEO ]   COL8A2 [ EBI - ARRAY_EXPRESS ]   COL8A2 [ SEEK ]   COL8A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL8A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1296
GTEX Portal (Tissue expression)COL8A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25067   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP25067  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP25067
Splice isoforms : SwissVarP25067
PhosPhoSitePlusP25067
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)   
Domains : Interpro (EBI)C1q_dom    Collagen    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam00386    pfam01391   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)COL8A2
DMDM Disease mutations1296
Blocks (Seattle)COL8A2
SuperfamilyP25067
Human Protein AtlasENSG00000171812
Peptide AtlasP25067
HPRD08347
IPIIPI00152756   IPI00979798   
Protein Interaction databases
DIP (DOE-UCLA)P25067
IntAct (EBI)P25067
FunCoupENSG00000171812
BioGRIDCOL8A2
STRING (EMBL)COL8A2
ZODIACCOL8A2
Ontologies - Pathways
QuickGOP25067
Ontology : AmiGOangiogenesis  extracellular matrix structural constituent  extracellular region  proteinaceous extracellular matrix  collagen trimer  basement membrane  endoplasmic reticulum lumen  single organismal cell-cell adhesion  extracellular matrix organization  extracellular matrix organization  collagen catabolic process  protein binding, bridging  extracellular matrix  camera-type eye morphogenesis  epithelial cell proliferation  
Ontology : EGO-EBIangiogenesis  extracellular matrix structural constituent  extracellular region  proteinaceous extracellular matrix  collagen trimer  basement membrane  endoplasmic reticulum lumen  single organismal cell-cell adhesion  extracellular matrix organization  extracellular matrix organization  collagen catabolic process  protein binding, bridging  extracellular matrix  camera-type eye morphogenesis  epithelial cell proliferation  
NDEx NetworkCOL8A2
Atlas of Cancer Signalling NetworkCOL8A2
Wikipedia pathwaysCOL8A2
Orthology - Evolution
OrthoDB1296
GeneTree (enSembl)ENSG00000171812
Phylogenetic Trees/Animal Genes : TreeFamCOL8A2
HOVERGENP25067
HOGENOMP25067
Homologs : HomoloGeneCOL8A2
Homology/Alignments : Family Browser (UCSC)COL8A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL8A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL8A2
dbVarCOL8A2
ClinVarCOL8A2
1000_GenomesCOL8A2 
Exome Variant ServerCOL8A2
ExAC (Exome Aggregation Consortium)COL8A2 (select the gene name)
Genetic variants : HAPMAP1296
Genomic Variants (DGV)COL8A2 [DGVbeta]
DECIPHER (Syndromes)1:36560837-36590685  ENSG00000171812
CONAN: Copy Number AnalysisCOL8A2 
Mutations
ICGC Data PortalCOL8A2 
TCGA Data PortalCOL8A2 
Broad Tumor PortalCOL8A2
OASIS PortalCOL8A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL8A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL8A2
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 COL8A2
DgiDB (Drug Gene Interaction Database)COL8A2
DoCM (Curated mutations)COL8A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL8A2 (select a term)
intoGenCOL8A2
Cancer3DCOL8A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120252    136800    609140   
Orphanet13990    13991   
MedgenCOL8A2
Genetic Testing Registry COL8A2
NextProtP25067 [Medical]
TSGene1296
GENETestsCOL8A2
Huge Navigator COL8A2 [HugePedia]
snp3D : Map Gene to Disease1296
BioCentury BCIQCOL8A2
ClinGenCOL8A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1296
Chemical/Pharm GKB GenePA26732
Clinical trialCOL8A2
Miscellaneous
canSAR (ICR)COL8A2 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL8A2
EVEXCOL8A2
GoPubMedCOL8A2
iHOPCOL8A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:01:17 CET 2017

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