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

COL4A4 (collagen type IV alpha 4)

Identity

Alias_namesalpha-4 chain
Alias_symbol (synonym)CA44
Other alias
HGNC (Hugo) COL4A4
LocusID (NCBI) 1286
Atlas_Id 55668
Location 2q36.3  [Link to chromosome band 2q36]
Location_base_pair Starts at 227867427 and ends at 228029275 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL4A4 (2q36.3) / VPS26B (11q25)

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)COL4A4   2206
LRG (Locus Reference Genomic)LRG_231
Cards
Entrez_Gene (NCBI)COL4A4  1286  collagen type IV alpha 4
AliasesCA44
GeneCards (Weizmann)COL4A4
Ensembl hg19 (Hinxton)ENSG00000081052 [Gene_View]  chr2:227867427-228029275 [Contig_View]  COL4A4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000081052 [Gene_View]  chr2:227867427-228029275 [Contig_View]  COL4A4 [Vega]
ICGC DataPortalENSG00000081052
TCGA cBioPortalCOL4A4
AceView (NCBI)COL4A4
Genatlas (Paris)COL4A4
WikiGenes1286
SOURCE (Princeton)COL4A4
Genetics Home Reference (NIH)COL4A4
Genomic and cartography
GoldenPath hg19 (UCSC)COL4A4  -     chr2:227867427-228029275 -  2q36.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL4A4  -     2q36.3   [Description]    (hg38-Dec_2013)
EnsemblCOL4A4 - 2q36.3 [CytoView hg19]  COL4A4 - 2q36.3 [CytoView hg38]
Mapping of homologs : NCBICOL4A4 [Mapview hg19]  COL4A4 [Mapview hg38]
OMIM120131   203780   
Gene and transcription
Genbank (Entrez)AA831056 BC065843 BX094848 D17391 X81053
RefSeq transcript (Entrez)NM_000092
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_011592 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)COL4A4
Cluster EST : UnigeneHs.591645 [ NCBI ]
CGAP (NCI)Hs.591645
Alternative Splicing GalleryENSG00000081052
Gene ExpressionCOL4A4 [ NCBI-GEO ]   COL4A4 [ EBI - ARRAY_EXPRESS ]   COL4A4 [ SEEK ]   COL4A4 [ MEM ]
Gene Expression Viewer (FireBrowse)COL4A4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1286
GTEX Portal (Tissue expression)COL4A4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53420   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53420  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53420
Splice isoforms : SwissVarP53420
PhosPhoSitePlusP53420
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)C-type_lectin_fold    Collagen    Collagen_VI_NC   
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
Conserved Domain (NCBI)COL4A4
DMDM Disease mutations1286
Blocks (Seattle)COL4A4
SuperfamilyP53420
Human Protein AtlasENSG00000081052
Peptide AtlasP53420
HPRD00360
IPIIPI00478572   IPI00944490   
Protein Interaction databases
DIP (DOE-UCLA)P53420
IntAct (EBI)P53420
FunCoupENSG00000081052
BioGRIDCOL4A4
STRING (EMBL)COL4A4
ZODIACCOL4A4
Ontologies - Pathways
QuickGOP53420
Ontology : AmiGOextracellular matrix structural constituent  extracellular region  collagen type IV trimer  basal lamina  endoplasmic reticulum lumen  extracellular matrix organization  collagen catabolic process  glomerular basement membrane development  
Ontology : EGO-EBIextracellular matrix structural constituent  extracellular region  collagen type IV trimer  basal lamina  endoplasmic reticulum lumen  extracellular matrix organization  collagen catabolic process  glomerular basement membrane development  
Pathways : BIOCARTAPlatelet Amyloid Precursor Protein Pathway [Genes]    Regulators of Bone Mineralization [Genes]    Acute Myocardial Infarction [Genes]    Intrinsic Prothrombin Activation Pathway [Genes]    Vitamin C in the Brain [Genes]    Angiotensin-converting enzyme 2 regulates heart function [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis    Pathways in cancer    Small cell lung cancer   
NDEx NetworkCOL4A4
Atlas of Cancer Signalling NetworkCOL4A4
Wikipedia pathwaysCOL4A4
Orthology - Evolution
OrthoDB1286
GeneTree (enSembl)ENSG00000081052
Phylogenetic Trees/Animal Genes : TreeFamCOL4A4
HOVERGENP53420
HOGENOMP53420
Homologs : HomoloGeneCOL4A4
Homology/Alignments : Family Browser (UCSC)COL4A4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL4A4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL4A4
dbVarCOL4A4
ClinVarCOL4A4
1000_GenomesCOL4A4 
Exome Variant ServerCOL4A4
ExAC (Exome Aggregation Consortium)COL4A4 (select the gene name)
Genetic variants : HAPMAP1286
Genomic Variants (DGV)COL4A4 [DGVbeta]
DECIPHER (Syndromes)2:227867427-228029275  ENSG00000081052
CONAN: Copy Number AnalysisCOL4A4 
Mutations
ICGC Data PortalCOL4A4 
TCGA Data PortalCOL4A4 
Broad Tumor PortalCOL4A4
OASIS PortalCOL4A4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL4A4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL4A4
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
BioMutasearch COL4A4
DgiDB (Drug Gene Interaction Database)COL4A4
DoCM (Curated mutations)COL4A4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL4A4 (select a term)
intoGenCOL4A4
Cancer3DCOL4A4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120131    203780   
Orphanet11850    11851   
MedgenCOL4A4
Genetic Testing Registry COL4A4
NextProtP53420 [Medical]
TSGene1286
GENETestsCOL4A4
Huge Navigator COL4A4 [HugePedia]
snp3D : Map Gene to Disease1286
BioCentury BCIQCOL4A4
ClinGenCOL4A4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1286
Chemical/Pharm GKB GenePA26721
Clinical trialCOL4A4
Miscellaneous
canSAR (ICR)COL4A4 (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL4A4
EVEXCOL4A4
GoPubMedCOL4A4
iHOPCOL4A4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:01:15 CET 2017

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.