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DMTN (dematin actin binding protein)

Identity

Alias_namesEPB49
erythrocyte membrane protein band 4.9 (dematin)
Alias_symbol (synonym)DMT
Other alias
HGNC (Hugo) DMTN
LocusID (NCBI) 2039
Atlas_Id 40460
Location 8p21.3  [Link to chromosome band 8p21]
Location_base_pair Starts at 21915375 and ends at 21940038 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DMTN (8p21.3) / PKN2 (1p22.2)DMTN (8p21.3) / PSAP (10q22.1)DMTN (8p21.3) / SCN2A (2q24.3)
TNFRSF10A (8p21.3) / DMTN (8p21.3)

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)DMTN   3382
Cards
Entrez_Gene (NCBI)DMTN  2039  dematin actin binding protein
AliasesDMT; EPB49
GeneCards (Weizmann)DMTN
Ensembl hg19 (Hinxton)ENSG00000158856 [Gene_View]  chr8:21915375-21940038 [Contig_View]  DMTN [Vega]
Ensembl hg38 (Hinxton)ENSG00000158856 [Gene_View]  chr8:21915375-21940038 [Contig_View]  DMTN [Vega]
ICGC DataPortalENSG00000158856
TCGA cBioPortalDMTN
AceView (NCBI)DMTN
Genatlas (Paris)DMTN
WikiGenes2039
SOURCE (Princeton)DMTN
Genetics Home Reference (NIH)DMTN
Genomic and cartography
GoldenPath hg19 (UCSC)DMTN  -     chr8:21915375-21940038 +  8p21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DMTN  -     8p21.3   [Description]    (hg38-Dec_2013)
EnsemblDMTN - 8p21.3 [CytoView hg19]  DMTN - 8p21.3 [CytoView hg38]
Mapping of homologs : NCBIDMTN [Mapview hg19]  DMTN [Mapview hg38]
OMIM125305   
Gene and transcription
Genbank (Entrez)AB209718 AK055842 AK091581 AK289650 AK295452
RefSeq transcript (Entrez)NM_001114135 NM_001114136 NM_001114137 NM_001114138 NM_001114139 NM_001302816 NM_001302817 NM_001978
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)DMTN
Cluster EST : UnigeneHs.106124 [ NCBI ]
CGAP (NCI)Hs.106124
Alternative Splicing GalleryENSG00000158856
Gene ExpressionDMTN [ NCBI-GEO ]   DMTN [ EBI - ARRAY_EXPRESS ]   DMTN [ SEEK ]   DMTN [ MEM ]
Gene Expression Viewer (FireBrowse)DMTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2039
GTEX Portal (Tissue expression)DMTN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08495   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08495  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08495
Splice isoforms : SwissVarQ08495
PhosPhoSitePlusQ08495
Domaine pattern : Prosite (Expaxy)HP (PS51089)   
Domains : Interpro (EBI)AbLIM_anchor    Villin_headpiece   
Domain families : Pfam (Sanger)AbLIM_anchor (PF16182)    VHP (PF02209)   
Domain families : Pfam (NCBI)pfam16182    pfam02209   
Domain families : Smart (EMBL)VHP (SM00153)  
Conserved Domain (NCBI)DMTN
DMDM Disease mutations2039
Blocks (Seattle)DMTN
PDB (SRS)1QZP    1ZV6   
PDB (PDBSum)1QZP    1ZV6   
PDB (IMB)1QZP    1ZV6   
PDB (RSDB)1QZP    1ZV6   
Structural Biology KnowledgeBase1QZP    1ZV6   
SCOP (Structural Classification of Proteins)1QZP    1ZV6   
CATH (Classification of proteins structures)1QZP    1ZV6   
SuperfamilyQ08495
Human Protein AtlasENSG00000158856
Peptide AtlasQ08495
HPRD00506
IPIIPI00292290   IPI01015007   IPI00556409   IPI00978553   IPI00976515   IPI00983287   IPI00884361   IPI00984478   IPI00981330   IPI00975836   IPI00979805   IPI00983953   IPI00980444   IPI00985119   IPI00976998   
Protein Interaction databases
DIP (DOE-UCLA)Q08495
IntAct (EBI)Q08495
FunCoupENSG00000158856
BioGRIDDMTN
STRING (EMBL)DMTN
ZODIACDMTN
Ontologies - Pathways
QuickGOQ08495
Ontology : AmiGOactin binding  receptor binding  protein binding  cytosol  cytosol  actin filament  plasma membrane  protein complex assembly  protein complex assembly  cytoskeleton organization  regulation of cell shape  regulation of lamellipodium assembly  positive regulation of fibroblast migration  negative regulation of peptidyl-threonine phosphorylation  negative regulation of cell-substrate adhesion  endomembrane system  spectrin-associated cytoskeleton  actin cytoskeleton  cytoplasmic, membrane-bounded vesicle  actin cytoskeleton organization  positive regulation of blood coagulation  spectrin binding  cortical cytoskeleton  platelet dense tubular network membrane  cell projection membrane  regulation of actin cytoskeleton organization  negative regulation of peptidyl-serine phosphorylation  calcium-mediated signaling using intracellular calcium source  calcium-mediated signaling using extracellular calcium source  calcium-mediated signaling using extracellular calcium source  protein self-association  perinuclear region of cytoplasm  erythrocyte development  negative regulation of peptidyl-tyrosine phosphorylation  actin filament bundle assembly  actin filament bundle assembly  regulation of filopodium assembly  actin filament capping  negative regulation of focal adhesion assembly  transmembrane transport  protein secretion by platelet  cellular response to calcium ion  cellular response to cAMP  positive regulation of wound healing  negative regulation of protein targeting to membrane  actin filament reorganization  neuronal postsynaptic density  negative regulation of substrate adhesion-dependent cell spreading  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of platelet aggregation  positive regulation of integrin-mediated signaling pathway  
Ontology : EGO-EBIactin binding  receptor binding  protein binding  cytosol  cytosol  actin filament  plasma membrane  protein complex assembly  protein complex assembly  cytoskeleton organization  regulation of cell shape  regulation of lamellipodium assembly  positive regulation of fibroblast migration  negative regulation of peptidyl-threonine phosphorylation  negative regulation of cell-substrate adhesion  endomembrane system  spectrin-associated cytoskeleton  actin cytoskeleton  cytoplasmic, membrane-bounded vesicle  actin cytoskeleton organization  positive regulation of blood coagulation  spectrin binding  cortical cytoskeleton  platelet dense tubular network membrane  cell projection membrane  regulation of actin cytoskeleton organization  negative regulation of peptidyl-serine phosphorylation  calcium-mediated signaling using intracellular calcium source  calcium-mediated signaling using extracellular calcium source  calcium-mediated signaling using extracellular calcium source  protein self-association  perinuclear region of cytoplasm  erythrocyte development  negative regulation of peptidyl-tyrosine phosphorylation  actin filament bundle assembly  actin filament bundle assembly  regulation of filopodium assembly  actin filament capping  negative regulation of focal adhesion assembly  transmembrane transport  protein secretion by platelet  cellular response to calcium ion  cellular response to cAMP  positive regulation of wound healing  negative regulation of protein targeting to membrane  actin filament reorganization  neuronal postsynaptic density  negative regulation of substrate adhesion-dependent cell spreading  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of platelet aggregation  positive regulation of integrin-mediated signaling pathway  
NDEx NetworkDMTN
Atlas of Cancer Signalling NetworkDMTN
Wikipedia pathwaysDMTN
Orthology - Evolution
OrthoDB2039
GeneTree (enSembl)ENSG00000158856
Phylogenetic Trees/Animal Genes : TreeFamDMTN
HOVERGENQ08495
HOGENOMQ08495
Homologs : HomoloGeneDMTN
Homology/Alignments : Family Browser (UCSC)DMTN
Gene fusions - Rearrangements
Fusion : MitelmanDMTN/SCN2A [8p21.3/2q24.3]  
Fusion : MitelmanTNFRSF10A/DMTN [8p21.3/8p21.3]  [t(8;8)(p21;p21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDMTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMTN
dbVarDMTN
ClinVarDMTN
1000_GenomesDMTN 
Exome Variant ServerDMTN
ExAC (Exome Aggregation Consortium)DMTN (select the gene name)
Genetic variants : HAPMAP2039
Genomic Variants (DGV)DMTN [DGVbeta]
DECIPHER (Syndromes)8:21915375-21940038  ENSG00000158856
CONAN: Copy Number AnalysisDMTN 
Mutations
ICGC Data PortalDMTN 
TCGA Data PortalDMTN 
Broad Tumor PortalDMTN
OASIS PortalDMTN [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDMTN
BioMutasearch DMTN
DgiDB (Drug Gene Interaction Database)DMTN
DoCM (Curated mutations)DMTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DMTN (select a term)
intoGenDMTN
Cancer3DDMTN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125305   
Orphanet
MedgenDMTN
Genetic Testing Registry DMTN
NextProtQ08495 [Medical]
TSGene2039
GENETestsDMTN
Huge Navigator DMTN [HugePedia]
snp3D : Map Gene to Disease2039
BioCentury BCIQDMTN
ClinGenDMTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2039
Chemical/Pharm GKB GenePA27815
Clinical trialDMTN
Miscellaneous
canSAR (ICR)DMTN (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDMTN
EVEXDMTN
GoPubMedDMTN
iHOPDMTN
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 : Tue Mar 14 13:03:28 CET 2017

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