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MATN3 (matrilin 3)

Identity

Alias_symbol (synonym)EDM5
HOA
Other aliasDIPOA
OADIP
OS2
HGNC (Hugo) MATN3
LocusID (NCBI) 4148
Atlas_Id 55578
Location 2p24.1  [Link to chromosome band 2p24]
Location_base_pair Starts at 19992052 and ends at 20012694 bp from pter ( according to hg38-Dec_2013)

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)MATN3   6909
Cards
Entrez_Gene (NCBI)MATN3  4148  matrilin 3
AliasesDIPOA; EDM5; HOA; OADIP; 
OS2
GeneCards (Weizmann)MATN3
Ensembl hg19 (Hinxton)ENSG00000132031 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132031 [Gene_View]  chr2:19992052-20012694 [Contig_View]  MATN3 [Vega]
ICGC DataPortalENSG00000132031
TCGA cBioPortalMATN3
AceView (NCBI)MATN3
Genatlas (Paris)MATN3
WikiGenes4148
SOURCE (Princeton)MATN3
Genetics Home Reference (NIH)MATN3
Genomic and cartography
GoldenPath hg38 (UCSC)MATN3  -     chr2:19992052-20012694 -  2p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MATN3  -     2p24.1   [Description]    (hg19-Feb_2009)
EnsemblMATN3 - 2p24.1 [CytoView hg19]  MATN3 - 2p24.1 [CytoView hg38]
Mapping of homologs : NCBIMATN3 [Mapview hg19]  MATN3 [Mapview hg38]
OMIM140600   602109   607078   608728   
Gene and transcription
Genbank (Entrez)AA461483 AJ001047 AJ224741 AK290856 AU121718
RefSeq transcript (Entrez)NM_002381
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MATN3
Cluster EST : UnigeneHs.656199 [ NCBI ]
CGAP (NCI)Hs.656199
Alternative Splicing GalleryENSG00000132031
Gene ExpressionMATN3 [ NCBI-GEO ]   MATN3 [ EBI - ARRAY_EXPRESS ]   MATN3 [ SEEK ]   MATN3 [ MEM ]
Gene Expression Viewer (FireBrowse)MATN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4148
GTEX Portal (Tissue expression)MATN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15232   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15232  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15232
Splice isoforms : SwissVarO15232
PhosPhoSitePlusO15232
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    EGF_3 (PS50026)    VWFA (PS50234)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    Growth_fac_rcpt_    Matrilin_3    Matrilin_coiled-coil_trimer    VWF_A   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    Matrilin_ccoil (PF10393)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam07645    pfam10393    pfam00092   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  Matrilin_ccoil (SM01279)  VWA (SM00327)  
Conserved Domain (NCBI)MATN3
DMDM Disease mutations4148
Blocks (Seattle)MATN3
SuperfamilyO15232
Human Protein AtlasENSG00000132031
Peptide AtlasO15232
HPRD03661
IPIIPI00005690   IPI00893271   
Protein Interaction databases
DIP (DOE-UCLA)O15232
IntAct (EBI)O15232
FunCoupENSG00000132031
BioGRIDMATN3
STRING (EMBL)MATN3
ZODIACMATN3
Ontologies - Pathways
QuickGOO15232
Ontology : AmiGOskeletal system development  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular matrix organization  
Ontology : EGO-EBIskeletal system development  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular matrix organization  
NDEx NetworkMATN3
Atlas of Cancer Signalling NetworkMATN3
Wikipedia pathwaysMATN3
Orthology - Evolution
OrthoDB4148
GeneTree (enSembl)ENSG00000132031
Phylogenetic Trees/Animal Genes : TreeFamMATN3
HOVERGENO15232
HOGENOMO15232
Homologs : HomoloGeneMATN3
Homology/Alignments : Family Browser (UCSC)MATN3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMATN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MATN3
dbVarMATN3
ClinVarMATN3
1000_GenomesMATN3 
Exome Variant ServerMATN3
ExAC (Exome Aggregation Consortium)MATN3 (select the gene name)
Genetic variants : HAPMAP4148
Genomic Variants (DGV)MATN3 [DGVbeta]
DECIPHERMATN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMATN3 
Mutations
ICGC Data PortalMATN3 
TCGA Data PortalMATN3 
Broad Tumor PortalMATN3
OASIS PortalMATN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMATN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMATN3
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)Mendelian genes
BioMutasearch MATN3
DgiDB (Drug Gene Interaction Database)MATN3
DoCM (Curated mutations)MATN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MATN3 (select a term)
intoGenMATN3
Cancer3DMATN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM140600    602109    607078    608728   
Orphanet17135    12248   
MedgenMATN3
Genetic Testing Registry MATN3
NextProtO15232 [Medical]
TSGene4148
GENETestsMATN3
Target ValidationMATN3
Huge Navigator MATN3 [HugePedia]
snp3D : Map Gene to Disease4148
BioCentury BCIQMATN3
ClinGenMATN3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4148
Chemical/Pharm GKB GenePA30652
Clinical trialMATN3
Miscellaneous
canSAR (ICR)MATN3 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMATN3
EVEXMATN3
GoPubMedMATN3
iHOPMATN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:06:25 CEST 2017

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