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MMRN2 (multimerin 2)

Identity

Alias_namesEMILIN3
elastin microfibril interfacer 3
Alias_symbol (synonym)EndoGlyx-1
FLJ13465
Other aliasEMILIN-3
ENDOGLYX-1
HGNC (Hugo) MMRN2
LocusID (NCBI) 79812
Atlas_Id 54823
Location 10q23.2  [Link to chromosome band 10q23]
Location_base_pair Starts at 86935541 and ends at 86957668 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)MMRN2   19888
Cards
Entrez_Gene (NCBI)MMRN2  79812  multimerin 2
AliasesEMILIN-3; EMILIN3; ENDOGLYX-1
GeneCards (Weizmann)MMRN2
Ensembl hg19 (Hinxton)ENSG00000173269 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173269 [Gene_View]  chr10:86935541-86957668 [Contig_View]  MMRN2 [Vega]
ICGC DataPortalENSG00000173269
TCGA cBioPortalMMRN2
AceView (NCBI)MMRN2
Genatlas (Paris)MMRN2
WikiGenes79812
SOURCE (Princeton)MMRN2
Genetics Home Reference (NIH)MMRN2
Genomic and cartography
GoldenPath hg38 (UCSC)MMRN2  -     chr10:86935541-86957668 -  10q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MMRN2  -     10q23.2   [Description]    (hg19-Feb_2009)
EnsemblMMRN2 - 10q23.2 [CytoView hg19]  MMRN2 - 10q23.2 [CytoView hg38]
Mapping of homologs : NCBIMMRN2 [Mapview hg19]  MMRN2 [Mapview hg38]
OMIM608925   
Gene and transcription
Genbank (Entrez)AK023527 AK293822 AK304727 AK308401 BC064415
RefSeq transcript (Entrez)NM_024756
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MMRN2
Cluster EST : UnigeneHs.524479 [ NCBI ]
CGAP (NCI)Hs.524479
Alternative Splicing GalleryENSG00000173269
Gene ExpressionMMRN2 [ NCBI-GEO ]   MMRN2 [ EBI - ARRAY_EXPRESS ]   MMRN2 [ SEEK ]   MMRN2 [ MEM ]
Gene Expression Viewer (FireBrowse)MMRN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79812
GTEX Portal (Tissue expression)MMRN2
Human Protein AtlasENSG00000173269-MMRN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H8L6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H8L6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H8L6
Splice isoforms : SwissVarQ9H8L6
PhosPhoSitePlusQ9H8L6
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)    EMI (PS51041)   
Domains : Interpro (EBI)C1q_dom    EMI_domain    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    EMI (PF07546)   
Domain families : Pfam (NCBI)pfam00386    pfam07546   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)MMRN2
DMDM Disease mutations79812
Blocks (Seattle)MMRN2
SuperfamilyQ9H8L6
Human Protein Atlas [tissue]ENSG00000173269-MMRN2 [tissue]
Peptide AtlasQ9H8L6
HPRD10601
IPIIPI00015525   IPI00908953   
Protein Interaction databases
DIP (DOE-UCLA)Q9H8L6
IntAct (EBI)Q9H8L6
FunCoupENSG00000173269
BioGRIDMMRN2
STRING (EMBL)MMRN2
ZODIACMMRN2
Ontologies - Pathways
QuickGOQ9H8L6
Ontology : AmiGOangiogenesis  protein binding  basement membrane  extracellular space  negative regulation of vascular endothelial growth factor receptor signaling pathway  extracellular matrix  extracellular exosome  negative regulation of cell migration involved in sprouting angiogenesis  
Ontology : EGO-EBIangiogenesis  protein binding  basement membrane  extracellular space  negative regulation of vascular endothelial growth factor receptor signaling pathway  extracellular matrix  extracellular exosome  negative regulation of cell migration involved in sprouting angiogenesis  
NDEx NetworkMMRN2
Atlas of Cancer Signalling NetworkMMRN2
Wikipedia pathwaysMMRN2
Orthology - Evolution
OrthoDB79812
GeneTree (enSembl)ENSG00000173269
Phylogenetic Trees/Animal Genes : TreeFamMMRN2
HOVERGENQ9H8L6
HOGENOMQ9H8L6
Homologs : HomoloGeneMMRN2
Homology/Alignments : Family Browser (UCSC)MMRN2
Gene fusions - Rearrangements
Fusion: Tumor Portal MMRN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMRN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMRN2
dbVarMMRN2
ClinVarMMRN2
1000_GenomesMMRN2 
Exome Variant ServerMMRN2
ExAC (Exome Aggregation Consortium)ENSG00000173269
GNOMAD BrowserENSG00000173269
Genetic variants : HAPMAP79812
Genomic Variants (DGV)MMRN2 [DGVbeta]
DECIPHERMMRN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMMRN2 
Mutations
ICGC Data PortalMMRN2 
TCGA Data PortalMMRN2 
Broad Tumor PortalMMRN2
OASIS PortalMMRN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMRN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMRN2
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 MMRN2
DgiDB (Drug Gene Interaction Database)MMRN2
DoCM (Curated mutations)MMRN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMRN2 (select a term)
intoGenMMRN2
Cancer3DMMRN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608925   
Orphanet
MedgenMMRN2
Genetic Testing Registry MMRN2
NextProtQ9H8L6 [Medical]
TSGene79812
GENETestsMMRN2
Target ValidationMMRN2
Huge Navigator MMRN2 [HugePedia]
snp3D : Map Gene to Disease79812
BioCentury BCIQMMRN2
ClinGenMMRN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79812
Chemical/Pharm GKB GenePA134991578
Clinical trialMMRN2
Miscellaneous
canSAR (ICR)MMRN2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMRN2
EVEXMMRN2
GoPubMedMMRN2
iHOPMMRN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:01:03 CET 2017

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