Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

MARVELD2 (MARVEL domain containing 2)

Identity

Alias_namesMRVLDC2
DFNB49
MARVEL (membrane-associating) domain containing 2
deafness, autosomal recessive 49
Alias_symbol (synonym)FLJ30532
TRIC
Other aliasMARVD2
Tric
HGNC (Hugo) MARVELD2
LocusID (NCBI) 153562
Atlas_Id 52554
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 69415112 and ends at 69442063 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MARVELD2 (5q13.2) / TRIM5 (11p15.4)MARVELD2 (5q13.2) / WDR19 (4p14)MARVELD2 5q13.2 / WDR19 4p14

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Liver: Fibrolamellar carcinoma


External links

Nomenclature
HGNC (Hugo)MARVELD2   26401
Cards
Entrez_Gene (NCBI)MARVELD2  153562  MARVEL domain containing 2
AliasesDFNB49; MARVD2; MRVLDC2; Tric
GeneCards (Weizmann)MARVELD2
Ensembl hg19 (Hinxton)ENSG00000152939 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152939 [Gene_View]  chr5:69415112-69442063 [Contig_View]  MARVELD2 [Vega]
ICGC DataPortalENSG00000152939
TCGA cBioPortalMARVELD2
AceView (NCBI)MARVELD2
Genatlas (Paris)MARVELD2
WikiGenes153562
SOURCE (Princeton)MARVELD2
Genetics Home Reference (NIH)MARVELD2
Genomic and cartography
GoldenPath hg38 (UCSC)MARVELD2  -     chr5:69415112-69442063 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MARVELD2  -     5q13.2   [Description]    (hg19-Feb_2009)
EnsemblMARVELD2 - 5q13.2 [CytoView hg19]  MARVELD2 - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBIMARVELD2 [Mapview hg19]  MARVELD2 [Mapview hg38]
OMIM610153   610572   
Gene and transcription
Genbank (Entrez)AB219936 AB219937 AK055094 AK292962 BC033689
RefSeq transcript (Entrez)NM_001038603 NM_001244734 NM_144724
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MARVELD2
Cluster EST : UnigeneHs.657687 [ NCBI ]
CGAP (NCI)Hs.657687
Alternative Splicing GalleryENSG00000152939
Gene ExpressionMARVELD2 [ NCBI-GEO ]   MARVELD2 [ EBI - ARRAY_EXPRESS ]   MARVELD2 [ SEEK ]   MARVELD2 [ MEM ]
Gene Expression Viewer (FireBrowse)MARVELD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)153562
GTEX Portal (Tissue expression)MARVELD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N4S9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N4S9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N4S9
Splice isoforms : SwissVarQ8N4S9
PhosPhoSitePlusQ8N4S9
Domaine pattern : Prosite (Expaxy)MARVEL (PS51225)   
Domains : Interpro (EBI)ELL/occludin    Marvel    MARVELD2    Occludin_ELL   
Domain families : Pfam (Sanger)MARVEL (PF01284)    Occludin_ELL (PF07303)   
Domain families : Pfam (NCBI)pfam01284    pfam07303   
Conserved Domain (NCBI)MARVELD2
DMDM Disease mutations153562
Blocks (Seattle)MARVELD2
SuperfamilyQ8N4S9
Human Protein AtlasENSG00000152939
Peptide AtlasQ8N4S9
HPRD11293
IPIIPI00296784   IPI00940741   IPI00914894   IPI00746745   IPI00827489   IPI00964646   IPI00964363   
Protein Interaction databases
DIP (DOE-UCLA)Q8N4S9
IntAct (EBI)Q8N4S9
FunCoupENSG00000152939
BioGRIDMARVELD2
STRING (EMBL)MARVELD2
ZODIACMARVELD2
Ontologies - Pathways
QuickGOQ8N4S9
Ontology : AmiGOprotein binding  cytoplasm  bicellular tight junction  sensory perception of sound  integral component of membrane  basolateral plasma membrane  apical plasma membrane  cell junction  cytoplasmic vesicle  paranodal junction  Schmidt-Lanterman incisure  cell-cell junction organization  establishment of endothelial barrier  tricellular tight junction  bicellular tight junction assembly  
Ontology : EGO-EBIprotein binding  cytoplasm  bicellular tight junction  sensory perception of sound  integral component of membrane  basolateral plasma membrane  apical plasma membrane  cell junction  cytoplasmic vesicle  paranodal junction  Schmidt-Lanterman incisure  cell-cell junction organization  establishment of endothelial barrier  tricellular tight junction  bicellular tight junction assembly  
NDEx NetworkMARVELD2
Atlas of Cancer Signalling NetworkMARVELD2
Wikipedia pathwaysMARVELD2
Orthology - Evolution
OrthoDB153562
GeneTree (enSembl)ENSG00000152939
Phylogenetic Trees/Animal Genes : TreeFamMARVELD2
HOVERGENQ8N4S9
HOGENOMQ8N4S9
Homologs : HomoloGeneMARVELD2
Homology/Alignments : Family Browser (UCSC)MARVELD2
Gene fusions - Rearrangements
Fusion : MitelmanMARVELD2/WDR19 [5q13.2/4p14]  
Fusion: TCGAMARVELD2 5q13.2 WDR19 4p14 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMARVELD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MARVELD2
dbVarMARVELD2
ClinVarMARVELD2
1000_GenomesMARVELD2 
Exome Variant ServerMARVELD2
ExAC (Exome Aggregation Consortium)MARVELD2 (select the gene name)
Genetic variants : HAPMAP153562
Genomic Variants (DGV)MARVELD2 [DGVbeta]
DECIPHERMARVELD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMARVELD2 
Mutations
ICGC Data PortalMARVELD2 
TCGA Data PortalMARVELD2 
Broad Tumor PortalMARVELD2
OASIS PortalMARVELD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMARVELD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMARVELD2
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 MARVELD2
DgiDB (Drug Gene Interaction Database)MARVELD2
DoCM (Curated mutations)MARVELD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MARVELD2 (select a term)
intoGenMARVELD2
Cancer3DMARVELD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610153    610572   
Orphanet12047   
MedgenMARVELD2
Genetic Testing Registry MARVELD2
NextProtQ8N4S9 [Medical]
TSGene153562
GENETestsMARVELD2
Huge Navigator MARVELD2 [HugePedia]
snp3D : Map Gene to Disease153562
BioCentury BCIQMARVELD2
ClinGenMARVELD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD153562
Chemical/Pharm GKB GenePA134954584
Clinical trialMARVELD2
Miscellaneous
canSAR (ICR)MARVELD2 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMARVELD2
EVEXMARVELD2
GoPubMedMARVELD2
iHOPMARVELD2
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 : Fri May 19 12:24:17 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.