Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MATN2 (matrilin 2)

Identity

Other alias-
HGNC (Hugo) MATN2
LocusID (NCBI) 4147
Atlas_Id 50840
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 98881249 and ends at 99048946 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HDAC2 (6q21) / MATN2 (8q22.1)KCTD12 (13q22.3) / MATN2 (8q22.1)MATN2 (8q22.1) / PLEKHA7 (11p15.1)
POP1 (8q22.2) / MATN2 (8q22.1)RAD54B (8q22.1) / MATN2 (8q22.1)ZNF461 (19q13.12) / MATN2 (8q22.1)
RAD54B 8q22.1 / MATN2 8q22.1ZNF461 19q13.12 / MATN2 8q22.1

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)MATN2   6908
Cards
Entrez_Gene (NCBI)MATN2  4147  matrilin 2
Aliases
GeneCards (Weizmann)MATN2
Ensembl hg19 (Hinxton)ENSG00000132561 [Gene_View]  chr8:98881249-99048946 [Contig_View]  MATN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000132561 [Gene_View]  chr8:98881249-99048946 [Contig_View]  MATN2 [Vega]
ICGC DataPortalENSG00000132561
TCGA cBioPortalMATN2
AceView (NCBI)MATN2
Genatlas (Paris)MATN2
WikiGenes4147
SOURCE (Princeton)MATN2
Genetics Home Reference (NIH)MATN2
Genomic and cartography
GoldenPath hg19 (UCSC)MATN2  -     chr8:98881249-99048946 +  8q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MATN2  -     8q22.1   [Description]    (hg38-Dec_2013)
EnsemblMATN2 - 8q22.1 [CytoView hg19]  MATN2 - 8q22.1 [CytoView hg38]
Mapping of homologs : NCBIMATN2 [Mapview hg19]  MATN2 [Mapview hg38]
OMIM602108   
Gene and transcription
Genbank (Entrez)AI434413 AK027775 AK075489 AK094101 AK289721
RefSeq transcript (Entrez)NM_001317748 NM_002380 NM_030583
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)MATN2
Cluster EST : UnigeneHs.737531 [ NCBI ]
CGAP (NCI)Hs.737531
Alternative Splicing GalleryENSG00000132561
Gene ExpressionMATN2 [ NCBI-GEO ]   MATN2 [ EBI - ARRAY_EXPRESS ]   MATN2 [ SEEK ]   MATN2 [ MEM ]
Gene Expression Viewer (FireBrowse)MATN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4147
GTEX Portal (Tissue expression)MATN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00339   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00339  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00339
Splice isoforms : SwissVarO00339
PhosPhoSitePlusO00339
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    VWFA (PS50234)   
Domains : Interpro (EBI)cEGF    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    Growth_fac_rcpt_    Matrilin_coiled-coil_trimer    VWF_A   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    Matrilin_ccoil (PF10393)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam10393    pfam00092   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  VWA (SM00327)  
Conserved Domain (NCBI)MATN2
DMDM Disease mutations4147
Blocks (Seattle)MATN2
SuperfamilyO00339
Human Protein AtlasENSG00000132561
Peptide AtlasO00339
HPRD03660
IPIIPI00168520   IPI00981431   IPI00607598   IPI00554542   IPI00473118   IPI00984673   IPI00979955   IPI00976547   IPI00985318   IPI00975888   IPI00982562   IPI00982082   IPI00976473   
Protein Interaction databases
DIP (DOE-UCLA)O00339
IntAct (EBI)O00339
FunCoupENSG00000132561
BioGRIDMATN2
STRING (EMBL)MATN2
ZODIACMATN2
Ontologies - Pathways
QuickGOO00339
Ontology : AmiGOneuron migration  molecular_function  calcium ion binding  protein binding  proteinaceous extracellular matrix  basement membrane  axon guidance  biological_process  glial cell migration  extracellular matrix  extracellular matrix  dendrite regeneration  response to axon injury  
Ontology : EGO-EBIneuron migration  molecular_function  calcium ion binding  protein binding  proteinaceous extracellular matrix  basement membrane  axon guidance  biological_process  glial cell migration  extracellular matrix  extracellular matrix  dendrite regeneration  response to axon injury  
NDEx NetworkMATN2
Atlas of Cancer Signalling NetworkMATN2
Wikipedia pathwaysMATN2
Orthology - Evolution
OrthoDB4147
GeneTree (enSembl)ENSG00000132561
Phylogenetic Trees/Animal Genes : TreeFamMATN2
HOVERGENO00339
HOGENOMO00339
Homologs : HomoloGeneMATN2
Homology/Alignments : Family Browser (UCSC)MATN2
Gene fusions - Rearrangements
Fusion : MitelmanPOP1/MATN2 [8q22.2/8q22.1]  [t(8;8)(q22;q22)]  
Fusion : MitelmanRAD54B/MATN2 [8q22.1/8q22.1]  [t(8;8)(q22;q22)]  
Fusion : MitelmanZNF461/MATN2 [19q13.12/8q22.1]  [t(8;19)(q22;q13)]  
Fusion: TCGARAD54B 8q22.1 MATN2 8q22.1 BRCA
Fusion: TCGAZNF461 19q13.12 MATN2 8q22.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMATN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MATN2
dbVarMATN2
ClinVarMATN2
1000_GenomesMATN2 
Exome Variant ServerMATN2
ExAC (Exome Aggregation Consortium)MATN2 (select the gene name)
Genetic variants : HAPMAP4147
Genomic Variants (DGV)MATN2 [DGVbeta]
DECIPHER (Syndromes)8:98881249-99048946  ENSG00000132561
CONAN: Copy Number AnalysisMATN2 
Mutations
ICGC Data PortalMATN2 
TCGA Data PortalMATN2 
Broad Tumor PortalMATN2
OASIS PortalMATN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMATN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMATN2
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 MATN2
DgiDB (Drug Gene Interaction Database)MATN2
DoCM (Curated mutations)MATN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MATN2 (select a term)
intoGenMATN2
Cancer3DMATN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602108   
Orphanet
MedgenMATN2
Genetic Testing Registry MATN2
NextProtO00339 [Medical]
TSGene4147
GENETestsMATN2
Huge Navigator MATN2 [HugePedia]
snp3D : Map Gene to Disease4147
BioCentury BCIQMATN2
ClinGenMATN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4147
Chemical/Pharm GKB GenePA30651
Clinical trialMATN2
Miscellaneous
canSAR (ICR)MATN2 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMATN2
EVEXMATN2
GoPubMedMATN2
iHOPMATN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:14:38 CET 2017

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