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DMTN Gene

protein-coding   GIFtS: 40
GCID: GC08P021907

Dematin Actin Binding Protein

(Previous name: erythrocyte membrane protein band 4.9 (dematin))
(Previous symbol: EPB49)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dematin Actin Binding Protein1 2     Dematin Actin-Binding Protein2 3
EPB491 2 3 5     dematin2
DMT2 3 5     Erythrocyte Membrane Protein Band 4.93
Erythrocyte Membrane Protein Band 4.9 (Dematin)1 2     

External Ids:    HGNC: 33821   Entrez Gene: 20392   Ensembl: ENSG000001588567   OMIM: 1253055   UniProtKB: Q084953   

Export aliases for DMTN gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DMTN Gene:
Dematin, or EPB49, is an actin-bundling protein originally identified in the erythroid membrane skeleton. Its
actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein kinase and is restored after
dephosphorylation (Rana et al., 1993 (PubMed 8341682)).(supplied by OMIM, Apr 2009)

GeneCards Summary for DMTN Gene:
DMTN (dematin actin binding protein) is a protein-coding gene. GO annotations related to this gene include actin binding and protein self-association. An important paralog of this gene is LPP.

UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
Function: Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles
formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by
the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1,
and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in
maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties.
Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA
activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense
tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation
of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading,
motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation

Gene Wiki entry for DMTN (EPB49) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for DMTN
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DMTN promoter sequence
   Search Chromatin IP Primers for DMTN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMTN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.1   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.1

DMTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMTN gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P021907:  view genomic region     (about GC identifiers)

Start:
21,906,506 bp from pter      End:
21,940,038 bp from pter
Size:
33,533 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495 (See protein sequence)
Recommended Name: Dematin  
Size: 405 amino acids; 45514 Da
Subunit: Monomeric (isoform 2); under reducing conditions. Self-associates. Exists under oxidizing condition as a
trimer of two isoforms 2 and isoform 1 linked by disulfide bonds (Probable). Found in a complex with DMTN,
F-actin and spectrin. Found in a complex with ADD2, DMTN and SLC2A1. Interacts with F-actin, ITPKB, RASGRF2 and
spectrin. Isoform 2 interacts with SLC2A1 (via C-terminus cytoplasmic region). Isoform 1 and isoform 2 interact
(phosphorylated form) with plasmodium berghei 14-3-3 protein; the interaction occurs in a PKA-dependent manner
2 PDB 3D structures from and Proteopedia for DMTN:
1QZP (3D)        1ZV6 (3D)    
Secondary accessions: A8K0T5 B3KP70 B3KRH3 E9PEJ0 Q13215 Q9BRE3
Alternative splicing: 3 isoforms:  Q08495-1   Q08495-2   Q08495-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DMTN: NX_Q08495

Explore proteomics data for DMTN at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation at Ser-403 by PKA causes the C-terminal headpiece domain to associate with the
    N-terminal core domain, and leads to the inhibition of its actin bundling activity1
  • The N-terminus is blocked1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DMTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001107607.1  NP_001107608.1  NP_001107609.1  NP_001107610.1  NP_001107611.1  NP_001969.2  

    ENSEMBL proteins: 
     ENSP00000428063   ENSP00000429116   ENSP00000430600   ENSP00000397904   ENSP00000430618  
     ENSP00000429234   ENSP00000428733   ENSP00000430382   ENSP00000428415   ENSP00000265800  
     ENSP00000429948   ENSP00000427866   ENSP00000429377   ENSP00000430609   ENSP00000370879  
     ENSP00000416111   ENSP00000350977   ENSP00000401291  

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    Novus Biologicals DMTN Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DMTN 

     
    antibodies-online proteins for DMTN (3 products) 

     
    antibodies-online peptides for DMTN

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    antibodies-online antibodies for DMTN (29 products) 

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    Browse ELISAs at Cloud-Clone Corp.
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003128 Villin_headpiece
     IPR028451 Dematin

    Graphical View of Domain Structure for InterPro Entry Q08495

    ProtoNet protein and cluster: Q08495

    1 Blocks protein domain: IPB003128 Villin headpiece

    UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
    Domain: Both the N-terminal core domain and the C-terminal headpiece domain are sufficient for binding to F-actin
    and necessary for actin bundling activity
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 1 HP (headpiece) domain


    Find genes that share domains with DMTN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEMA_HUMAN, Q08495
    Function: Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles
    formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by
    the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1,
    and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in
    maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties.
    Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA
    activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense
    tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation
    of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading,
    motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA19241372
    GO:0005102receptor binding IDA18347014
    GO:0005515protein binding IPI18347014
    GO:0030507spectrin binding IDA--
    GO:0043621protein self-association IDA--
         
    Find genes that share ontologies with DMTN           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Epb4.9):
     hematopoietic system 

    Find genes that share phenotypes with DMTN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dmtntm1Ahc for DMTN

       genOway: Develop your customized and physiologically relevant rodent model for DMTN

    miRNA
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    miRTarBase miRNAs that target DMTN:
    hsa-mir-149-5p (MIRT045524), hsa-mir-484 (MIRT042375), hsa-mir-1 (MIRT023523), hsa-mir-23b-3p (MIRT046337), hsa-mir-93-3p (MIRT038860)

    Block miRNA regulation of human, mouse, rat DMTN using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DEMA_HUMAN, Q08495: Cytoplasm. Cytoplasm, cytosol. Cytoplasm, perinuclear region (By similarity). Cytoplasm,
    cytoskeleton. Cell membrane. Membrane (By similarity). Endomembrane system. Cell projection (By similarity).
    Note=Localized at the spectrin-actin junction of erythrocyte plasma membrane. Localized to intracellular
    membranes and the cytoskeletal network. Localized at intracellular membrane-bounded organelle compartment in
    platelets that likely represent the dense tubular network membrane. Detected at the cell membrane and at the
    parasitophorous vacuol in malaria-infected erythrocytes at late stages of plasmodium berghei or falciparum
    development

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA--
    GO:0005884actin filament IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with DMTN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DMTN
    Interactions:

        Search GeneGlobe Interaction Network for DMTN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for DMTN (Q084952, 3 ENSP000002658004) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTOV1Q86YD12, 3MINT-64691 I2D: score=5 
    SNRPD2P623162, 3MINT-64072 I2D: score=4 
    PROCRQ9UNN82, 3, ENSP000002169684MINT-64074 I2D: score=5 STRING: ENSP00000216968
    DYNC1LI2O432373, ENSP000002581984I2D: score=4 STRING: ENSP00000258198
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly ISS--
    GO:0007010cytoskeleton organization TAS7615546
    GO:0008360regulation of cell shape IMP10565303
    GO:0010591regulation of lamellipodium assembly IMP10565303
    GO:0010763positive regulation of fibroblast migration ISS--

    Find genes that share ontologies with DMTN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DMTN (DEMA)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DMTN gene (6 alternative transcripts): 
    NM_001114135.2  NM_001114136.1  NM_001114137.1  NM_001114138.1  NM_001114139.1  NM_001978.2  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000522148 ENST00000523300 ENST00000519959 ENST00000519850 ENST00000443491(uc011kys.1 uc022ass.1)
    ENST00000518816 ENST00000517600 ENST00000523782 ENST00000520856 ENST00000523623
    ENST00000520174 ENST00000517804 ENST00000265800(uc022ast.1 uc022asw.1 uc022asx.1 uc022asy.1)
    ENST00000517418 ENST00000523266 ENST00000519907 ENST00000517305 ENST00000522340

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      QuantiFast Probe-based Assays in human, mouse, rat DMTN

    Selected AceView cDNA sequences (see all 168):

    H65304 BG055677 CB155183 BX644547 CD674915 T34776 R40779 F30467 
    BI823974 BM141877 CK820030 AA383081 BX406256 AL138164 F04623 F03346 
    AW339606 AW473097 BF510971 H26969 F08518 AW473094 BM142182 BX367035 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DMTN (see all 20)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^
    SP1:                                                              -     -           -     -     -                                               -     -         
    SP2:              -     -     -     -     -     -     -     -     -     -     -     -     -     -                                               -     -         
    SP3:                                -     -     -     -     -     -     -     -     -     -     -                 -                             -     -         
    SP4:                                                  -     -     -     -     -     -     -     -                 -                             -     -         
    SP5:                                                                                                                                                            

    ExUns: 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                              -                     


    ECgene alternative splicing isoforms for DMTN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DMTN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DMTN Expression
    About this image


    DMTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Placenta (Extraembryonic Tissues)
    DMTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMTN Protein Expression

    UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
    Tissue specificity: Expressed in platelets (at protein level). Expressed in heart, brain, lung, skeletal muscle,
    and kidney

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMTN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DMTN gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epb4.95
    Dmtn1
    erythrocyte protein band 4.95
    dematin actin binding protein1
    89.96(n)1
    96.05(a)1
      14 (36.32 cM)5
    138291  NM_001252662.11  NP_001239591.11 
     706021845 
    chicken
    (Gallus gallus)
    Aves EPB491 erythrocyte membrane protein band 4.9 (dematin) 75.49(n)
    79.74(a)
      776542  XM_003643470.2  XP_003643518.2 
    lizard
    (Anolis carolinensis)
    Reptilia DMTN6
    dematin actin binding protein
    76(a)
    1 ↔ 1
    GL343858.1(1483-21538)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.88952 Xenopus laevis transcribed sequence with weak similarity more 75(n)    CD326858.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj78f012 Transcribed sequence with weak similarity to protein more 75.57(n)    CD598541.1 


    ENSEMBL Gene Tree for DMTN (if available)
    TreeFam Gene Tree for DMTN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMTN gene
    LPP2  FBLIM12  TRIP62  ABLIM32  WTIP2  AJUBA2  ZYX2  ABLIM22  
    LIMD12  ABLIM12  
    3 SIMAP similar genes for DMTN using alignment to 10 protein entries:     DEMA_HUMAN (see all proteins):
    VIL1    ABLIM1    SVIL

    Find genes that share paralogs with DMTN           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DMTN (see all 299)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs782924661,2
    C,F--21909133(+) AAGATT/CCCCTC 1 -- us2k11Minor allele frequency- C:0.20WA 118
    rs561769651,2
    C,F--21909218(+) CTGCTC/TTCTGC 1 -- us2k16Minor allele frequency- T:0.28NA CSA WA EA 364
    rs561513141,2
    C--21909244(+) TGCACC/TGTGGC 1 -- us2k16Minor allele frequency- T:0.36NA CSA WA EA 363
    rs563174391,2
    C,F--21909280(+) TATCCA/GCTCGC 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1440628401,2
    C--21909314(+) TCAACA/GCTGCC 1 -- us2k10--------
    rs1486284371,2
    --21909337(+) ACATCC/TGAGTT 1 -- us2k10--------
    rs1840424051,2
    --21909385(+) ACCCAC/TGCCAC 1 -- us2k10--------
    rs1890177631,2
    --21909398(+) TATCCC/TGGCCA 1 -- us2k10--------
    rs1171919421,2
    C,F--21909453(+) GTCTCC/TCTATT 1 -- us2k11Minor allele frequency- T:0.13NA 120
    rs1412211751,2
    --21909486(+) CTTTAA/GGAATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DMTN (21906506 - 21940038 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DMTN: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DMTN
    DNA2.0 Custom Variant and Variant Library Synthesis for DMTN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 125305    OMIM disorders: --


    Find genes that share disorders with DMTN           About GenesLikeMe

    3 Novoseek inferred disease relationships for DMTN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spherocytosis hereditary 72.9 1 7615546 (1)
    anemia hemolytic 42.5 1 7615546 (1)
    prostate cancer 5.43 2 10565303 (2)


    Export disorders for DMTN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DMTN gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with DMTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human erythroid dematin reveals another member of the villin family. (PubMed id 8341682)1, 2, 3, 9 Rana A.P.... Chishti A.H. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. Dematin exhibits a natively unfolded core domain and an independently folded headpiece domain. (PubMed id 19241372)1, 2, 9 Chen L.... McKnight C.J. (Protein Sci. 2009)
    3. Loss of heterozygosity on 8p in prostate cancer implicates a role for dematin in tumor progression. (PubMed id 10565303)1, 2, 9 Lutchman M.... Chishti A.H. (Cancer Genet. Cytogenet. 1999)
    4. The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site. (PubMed id 14660664)1, 2, 9 Frank B.S.... McKnight C.J. (J. Biol. Chem. 2004)
    5. Dematin and adducin provide a novel link between the spectrin cytoskeleton and human erythrocyte membrane by directly interacting with glucose transporter-1. (PubMed id 18347014)1, 2, 9 Khan A.A.... Chishti A.H. (J. Biol. Chem. 2008)
    6. Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily. (PubMed id 7615546)1, 2, 9 Azim A.C.... Chishti A.H. (J. Biol. Chem. 1995)
    7. The allosteric mechanism induced by protein kinase A (PKA) phosphorylation of dematin (band 4.9). (PubMed id 23355471)1, 2 Chen L.... McKnight C.J. (J. Biol. Chem. 2013)
    8. Identification of a novel role for dematin in regulating red cell membrane function by modulating spectrin-actin interaction. (PubMed id 22927433)1, 2 Koshino I.... Takakuwa Y. (J. Biol. Chem. 2012)
    9. Headpiece domain of dematin regulates calcium mobilization and signaling in platelets. (PubMed id 23060452)1, 2 Wieschhaus A.J.... Chishti A.H. (J. Biol. Chem. 2012)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2039 HGNC: 3382 AceView: EPB49 Ensembl:ENSG00000158856 euGenes: HUgn2039
    ECgene: DMTN H-InvDB: DMTN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DMTN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DMTN gene:
    Search GeneIP for patents involving DMTN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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