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MARVELD2 (MARVEL domain containing 2)

Identity

Alias (NCBI)DFNB49
MARVD2
MRVLDC2
Tric
HGNC (Hugo) MARVELD2
HGNC Alias symbFLJ30532
TRIC
HGNC Alias nametricellulin
HGNC Previous nameMRVLDC2
 DFNB49
HGNC Previous nameMARVEL (membrane-associating) domain containing 2
 deafness, autosomal recessive 49
LocusID (NCBI) 153562
Atlas_Id 52554
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 69415116 and ends at 69444330 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)
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

 



External links

 

Nomenclature
HGNC (Hugo)MARVELD2   26401
Cards
Entrez_Gene (NCBI)MARVELD2    MARVEL domain containing 2
AliasesDFNB49; MARVD2; MRVLDC2; Tric
GeneCards (Weizmann)MARVELD2
Ensembl hg19 (Hinxton)ENSG00000152939 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152939 [Gene_View]  ENSG00000152939 [Sequence]  chr5:69415116-69444330 [Contig_View]  MARVELD2 [Vega]
ICGC DataPortalENSG00000152939
TCGA cBioPortalMARVELD2
AceView (NCBI)MARVELD2
Genatlas (Paris)MARVELD2
SOURCE (Princeton)MARVELD2
Genetics Home Reference (NIH)MARVELD2
Genomic and cartography
GoldenPath hg38 (UCSC)MARVELD2  -     chr5:69415116-69444330 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MARVELD2  -     5q13.2   [Description]    (hg19-Feb_2009)
GoldenPathMARVELD2 - 5q13.2 [CytoView hg19]  MARVELD2 - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000152939
Genome Data Viewer NCBIMARVELD2 [Mapview hg19]  
OMIM610153   610572   
Gene and transcription
Genbank (Entrez)AB219936 AB219937 AK055094 AK292962 BC033689
RefSeq transcript (Entrez)NM_001038603 NM_001244734 NM_144724
Consensus coding sequences : CCDS (NCBI)MARVELD2
Gene ExpressionMARVELD2 [ NCBI-GEO ]   MARVELD2 [ EBI - ARRAY_EXPRESS ]   MARVELD2 [ SEEK ]   MARVELD2 [ MEM ]
Gene Expression Viewer (FireBrowse)MARVELD2 [ Firebrowse - Broad ]
GenevisibleExpression of MARVELD2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)153562
GTEX Portal (Tissue expression)MARVELD2
Human Protein AtlasENSG00000152939-MARVELD2 [pathology]   [cell]   [tissue]
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
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
PDB (RSDB)5N7H    5N7I    5N7K   
PDB Europe5N7H    5N7I    5N7K   
PDB (PDBSum)5N7H    5N7I    5N7K   
PDB (IMB)5N7H    5N7I    5N7K   
Structural Biology KnowledgeBase5N7H    5N7I    5N7K   
SCOP (Structural Classification of Proteins)5N7H    5N7I    5N7K   
CATH (Classification of proteins structures)5N7H    5N7I    5N7K   
SuperfamilyQ8N4S9
AlphaFold pdb e-kbQ8N4S9   
Human Protein Atlas [tissue]ENSG00000152939-MARVELD2 [tissue]
HPRD11293
Protein Interaction databases
DIP (DOE-UCLA)Q8N4S9
IntAct (EBI)Q8N4S9
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
Homologs : HomoloGeneMARVELD2
Homology/Alignments : Family Browser (UCSC)MARVELD2
Gene fusions - Rearrangements
Fusion : MitelmanMARVELD2/WDR19 [5q13.2/4p14]  
Fusion : QuiverMARVELD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMARVELD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MARVELD2
dbVarMARVELD2
ClinVarMARVELD2
MonarchMARVELD2
1000_GenomesMARVELD2 
Exome Variant ServerMARVELD2
GNOMAD BrowserENSG00000152939
Varsome BrowserMARVELD2
ACMGMARVELD2 variants
VarityQ8N4S9
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]  
Somatic Mutations in Cancer : COSMIC3DMARVELD2
Mutations and Diseases : HGMDMARVELD2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMARVELD2
DgiDB (Drug Gene Interaction Database)MARVELD2
DoCM (Curated mutations)MARVELD2
CIViC (Clinical Interpretations of Variants in Cancer)MARVELD2
Cancer3DMARVELD2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610153    610572   
Orphanet12047   
DisGeNETMARVELD2
MedgenMARVELD2
Genetic Testing Registry MARVELD2
NextProtQ8N4S9 [Medical]
GENETestsMARVELD2
Target ValidationMARVELD2
Huge Navigator MARVELD2 [HugePedia]
ClinGenMARVELD2
Clinical trials, drugs, therapy
MyCancerGenomeMARVELD2
Protein Interactions : CTDMARVELD2
Pharm GKB GenePA134954584
PharosQ8N4S9
Clinical trialMARVELD2
Miscellaneous
canSAR (ICR)MARVELD2
HarmonizomeMARVELD2
DataMed IndexMARVELD2
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMARVELD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:17:54 CEST 2021

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