Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen))

Identity

Other names-
HGNC (Hugo) COL4A3
LocusID (NCBI) 1285
Location 2q36.3
Location_base_pair Starts at 228029281 and ends at 228179508 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)COL4A3   2204
Cards
Entrez_Gene (NCBI)COL4A3  1285  collagen, type IV, alpha 3 (Goodpasture antigen)
GeneCards (Weizmann)COL4A3
Ensembl hg19 (Hinxton)ENSG00000169031 [Gene_View]  chr2:228029281-228179508 [Contig_View]  COL4A3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169031 [Gene_View]  chr2:228029281-228179508 [Contig_View]  COL4A3 [Vega]
ICGC DataPortalENSG00000169031
cBioPortalCOL4A3
AceView (NCBI)COL4A3
Genatlas (Paris)COL4A3
WikiGenes1285
SOURCE (Princeton)COL4A3
Genomic and cartography
GoldenPath hg19 (UCSC)COL4A3  -     chr2:228029281-228179508 +  2q36.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL4A3  -     2q36.3   [Description]    (hg38-Dec_2013)
EnsemblCOL4A3 - 2q36.3 [CytoView hg19]  COL4A3 - 2q36.3 [CytoView hg38]
Mapping of homologs : NCBICOL4A3 [Mapview hg19]  COL4A3 [Mapview hg38]
OMIM104200   120070   141200   203780   
Gene and transcription
Genbank (Entrez)AF258351 AU099354 BC156138 BM670570 BM712932
RefSeq transcript (Entrez)NM_000091 NM_031362 NM_031363 NM_031364 NM_031365 NM_031366
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_011591 NT_005403 NW_001838866 NW_004929305
Consensus coding sequences : CCDS (NCBI)COL4A3
Cluster EST : UnigeneHs.570065 [ NCBI ]
CGAP (NCI)Hs.570065
Alternative Splicing : Fast-db (Paris)GSHG0017248
Alternative Splicing GalleryENSG00000169031
Gene ExpressionCOL4A3 [ NCBI-GEO ]     COL4A3 [ SEEK ]   COL4A3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01955 (Uniprot)
NextProtQ01955  [Medical]
With graphics : InterProQ01955
Splice isoforms : SwissVarQ01955 (Swissvar)
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)C-type_lectin_fold    Collagen    Collagen_VI_NC   
Related proteins : CluSTrQ01955
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
DMDM Disease mutations1285
Blocks (Seattle)Q01955
Human Protein AtlasENSG00000169031
Peptide AtlasQ01955
HPRD00354
IPIIPI00010360   IPI00332623   IPI00413923   IPI00829991   IPI00396322   IPI00977256   IPI01018645   IPI01018950   
Protein Interaction databases
DIP (DOE-UCLA)Q01955
IntAct (EBI)Q01955
FunCoupENSG00000169031
BioGRIDCOL4A3
IntegromeDBCOL4A3
STRING (EMBL)COL4A3
Ontologies - Pathways
QuickGOQ01955
Ontology : AmiGOintegrin binding  integrin binding  structural molecule activity  extracellular matrix structural constituent  protein binding  extracellular region  collagen type IV trimer  basement membrane  endoplasmic reticulum lumen  activation of cysteine-type endopeptidase activity involved in apoptotic process  cell adhesion  cell surface receptor signaling pathway  axon guidance  sensory perception of sound  blood circulation  metalloendopeptidase inhibitor activity  cell proliferation  negative regulation of cell proliferation  response to glucose  negative regulation of endopeptidase activity  negative regulation of angiogenesis  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  glomerular basement membrane development  endothelial cell apoptotic process  
Ontology : EGO-EBIintegrin binding  integrin binding  structural molecule activity  extracellular matrix structural constituent  protein binding  extracellular region  collagen type IV trimer  basement membrane  endoplasmic reticulum lumen  activation of cysteine-type endopeptidase activity involved in apoptotic process  cell adhesion  cell surface receptor signaling pathway  axon guidance  sensory perception of sound  blood circulation  metalloendopeptidase inhibitor activity  cell proliferation  negative regulation of cell proliferation  response to glucose  negative regulation of endopeptidase activity  negative regulation of angiogenesis  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  glomerular basement membrane development  endothelial cell apoptotic process  
Pathways : BIOCARTARegulators of Bone Mineralization [Genes]    Platelet Amyloid Precursor Protein Pathway [Genes]    Intrinsic Prothrombin Activation Pathway [Genes]    Angiotensin-converting enzyme 2 regulates heart function [Genes]    Vitamin C in the Brain [Genes]    Acute Myocardial Infarction [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis    Pathways in cancer    Small cell lung cancer   
Protein Interaction DatabaseCOL4A3
DoCM (Curated mutations)COL4A3
Wikipedia pathwaysCOL4A3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCOL4A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL4A3
dbVarCOL4A3
ClinVarCOL4A3
1000_GenomesCOL4A3 
Exome Variant ServerCOL4A3
SNP (GeneSNP Utah)COL4A3
SNP : HGBaseCOL4A3
Genetic variants : HAPMAPCOL4A3
Genomic VariantsCOL4A3  COL4A3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000169031 
Somatic Mutations in Cancer : COSMICCOL4A3 
CONAN: Copy Number AnalysisCOL4A3 
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
LOVD (Leiden Open Variation Database)Collagen, type IV, alpha
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:228029281-228179508
Mutations and Diseases : HGMDCOL4A3
OMIM104200    120070    141200    203780   
MedgenCOL4A3
NextProtQ01955 [Medical]
GENETestsCOL4A3
Disease Genetic AssociationCOL4A3
Huge Navigator COL4A3 [HugePedia]  COL4A3 [HugeCancerGEM]
snp3D : Map Gene to Disease1285
DGIdb (Drug Gene Interaction db)COL4A3
General knowledge
Homologs : HomoloGeneCOL4A3
Homology/Alignments : Family Browser (UCSC)COL4A3
Phylogenetic Trees/Animal Genes : TreeFamCOL4A3
Chemical/Protein Interactions : CTD1285
Chemical/Pharm GKB GenePA26719
Clinical trialCOL4A3
Cancer Resource (Charite)ENSG00000169031
Other databases
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
CoreMineCOL4A3
GoPubMedCOL4A3
iHOPCOL4A3
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:56:08 CET 2014
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