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Aliases for DMTN Gene

Aliases for DMTN Gene

  • Dematin Actin Binding Protein 2 3 5
  • Erythrocyte Membrane Protein Band 4.9 (Dematin) 2 3
  • EPB49 3 4
  • DMT 3 4
  • Erythrocyte Membrane Protein Band 4.9 4
  • Dematin Actin-Binding Protein 4
  • Dematin 3

External Ids for DMTN Gene

Previous HGNC Symbols for DMTN Gene

  • EPB49

Previous GeneCards Identifiers for DMTN Gene

  • GC08P021907

Summaries for DMTN Gene

Entrez Gene Summary for DMTN Gene

  • The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]

GeneCards Summary for DMTN Gene

DMTN (Dematin Actin Binding Protein) is a Protein Coding gene. Diseases associated with DMTN include Hypotrichosis and Hereditary Spherocytosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. Gene Ontology (GO) annotations related to this gene include receptor binding and protein self-association. An important paralog of this gene is ABLIM1.

UniProtKB/Swiss-Prot for DMTN Gene

  • 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 Gene

Additional gene information for DMTN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMTN Gene

Genomics for DMTN Gene

GeneHancer (GH) Regulatory Elements for DMTN Gene

Promoters and enhancers for DMTN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I022058 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 570.1 +11.0 11029 3.5 HDGF MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 SP5 DMTN NUDT18 GC08M022066
GH08I022053 Promoter/Enhancer 1.7 EPDnew ENCODE dbSUPER 562.1 +6.3 6260 4 HDGF MLX ARID4B SIN3A DMAP1 ZNF48 GLIS2 ARID2 ZNF143 SP5 DMTN ENSG00000253200 C8orf58 CCAR2 FAM160B2 POLR3D BIN3 HR GC08M022066
GH08I022047 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 579.9 -0.3 -349 1.5 RING1 RB1 SUZ12 HIC1 ZNF335 E2F1 CCNT2 GLIS2 POLR2A PATZ1 DMTN CCAR2 ENSG00000253200 FAM160B2 POLR3D C8orf58 XPO7 SORBS3 ENSG00000251034 HR
GH08I022049 Enhancer 1 VISTA ENCODE dbSUPER 550.8 +1.3 1348 0.9 POLR2A EZH2 DMTN GC08M022066
GH08I022057 Promoter/Enhancer 1 EPDnew dbSUPER 550.4 +8.9 8850 0.1 ZFHX2 KLF1 GLIS2 ZNF407 DMTN GC08M022066
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DMTN on UCSC Golden Path with GeneCards custom track

Genomic Locations for DMTN Gene

Genomic Locations for DMTN Gene
chr8:22,048,995-22,082,527
(GRCh38/hg38)
Size:
33,533 bases
Orientation:
Plus strand
chr8:21,906,506-21,940,038
(GRCh37/hg19)

Genomic View for DMTN Gene

Genes around DMTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMTN Gene

Proteins for DMTN Gene

  • Protein details for DMTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08495-DEMA_HUMAN
    Recommended name:
    Dematin
    Protein Accession:
    Q08495
    Secondary Accessions:
    • A8K0T5
    • B3KP70
    • B3KRH3
    • B4DI75
    • E9PEJ0
    • Q13215
    • Q9BRE3

    Protein attributes for DMTN Gene

    Size:
    405 amino acids
    Molecular mass:
    45514 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for DMTN Gene

    Alternative splice isoforms for DMTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMTN Gene

Post-translational modifications for DMTN Gene

  • 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 activity.
  • The N-terminus is blocked.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMTN Gene

Domains & Families for DMTN Gene

Gene Families for DMTN Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DMTN Gene

Suggested Antigen Peptide Sequences for DMTN Gene

Graphical View of Domain Structure for InterPro Entry

Q08495

UniProtKB/Swiss-Prot:

DEMA_HUMAN :
  • 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.
  • Belongs to the villin/gelsolin family.
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.
Family:
  • Belongs to the villin/gelsolin family.
genes like me logo Genes that share domains with DMTN: view

Function for DMTN Gene

Molecular function for DMTN Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for DMTN Gene

Gene Ontology (GO) - Molecular Function for DMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 22927433
GO:0005102 receptor binding IDA 18347014
GO:0005515 protein binding IPI 18347014
GO:0030507 spectrin binding IDA 22927433
GO:0043621 protein self-association IEA --
genes like me logo Genes that share ontologies with DMTN: view

Phenotypes for DMTN Gene

MGI mutant phenotypes for DMTN:
inferred from 1 alleles
GenomeRNAi human phenotypes for DMTN:
genes like me logo Genes that share phenotypes with DMTN: view

Animal Models for DMTN Gene

MGI Knock Outs for DMTN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DMTN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMTN Gene

Localization for DMTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMTN Gene

Cytoplasm. Cytoplasm, cytosol. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane. Membrane. Endomembrane system. Cell projection. 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 vacuole in malaria-infected erythrocytes at late stages of plasmodium berghei or falciparum development.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMTN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for DMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IDA 22927433
GO:0005886 plasma membrane IEA,IDA 23060452
genes like me logo Genes that share ontologies with DMTN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMTN Gene

Pathways & Interactions for DMTN Gene

genes like me logo Genes that share pathways with DMTN: view

Pathways by source for DMTN Gene

Gene Ontology (GO) - Biological Process for DMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly ISS --
GO:0007010 cytoskeleton organization TAS 7615546
GO:0008360 regulation of cell shape IMP 10565303
GO:0010591 regulation of lamellipodium assembly IMP 10565303
GO:0010763 positive regulation of fibroblast migration ISS --
genes like me logo Genes that share ontologies with DMTN: view

No data available for SIGNOR curated interactions for DMTN Gene

Drugs & Compounds for DMTN Gene

(1) Drugs for DMTN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with DMTN: view

Transcripts for DMTN Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DMTN

Alternative Splicing Database (ASD) splice patterns (SP) for DMTN Gene

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:
SP6:
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - - - - - - - -
SP14: - - - - - - -
SP15: - - -
SP16: - - - - -
SP17: - - - -
SP18:
SP19: -
SP20: -

ExUns: 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for DMTN Gene

GeneLoc Exon Structure for
DMTN
ECgene alternative splicing isoforms for
DMTN

Expression for DMTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DMTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMTN Gene

This gene is overexpressed in Whole Blood (x5.9), Brain - Cortex (x4.8), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for DMTN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.4), Platelet (13.1), Frontal cortex (8.0), and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DMTN Gene



Protein tissue co-expression partners for DMTN Gene

NURSA nuclear receptor signaling pathways regulating expression of DMTN Gene:

DMTN

mRNA Expression by UniProt/SwissProt for DMTN Gene:

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

Evidence on tissue expression from TISSUES for DMTN Gene

  • Nervous system(5)
  • Blood(4.4)
  • Liver(4.4)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with DMTN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DMTN Gene

Orthologs for DMTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for DMTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMTN 34
  • 100 (a)
OneToOne
EPB49 33
  • 99.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DMTN 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMTN 33 34
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia DMTN 33 34
  • 91 (n)
mouse
(Mus musculus)
Mammalia Dmtn 33 16 34
  • 89.96 (n)
rat
(Rattus norvegicus)
Mammalia Dmtn 33
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia DMTN 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMTN 34
  • 77 (a)
OneToOne
EPB49 33
  • 75.49 (n)
lizard
(Anolis carolinensis)
Reptilia DMTN 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmtn 33
  • 62.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8895 33
zebrafish
(Danio rerio)
Actinopterygii dmtn 33 34
  • 63.15 (n)
wufj78f01 33
Species where no ortholog for DMTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DMTN Gene

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

Paralogs for DMTN Gene

Paralogs for DMTN Gene

genes like me logo Genes that share paralogs with DMTN: view

Variants for DMTN Gene

Sequence variations from dbSNP and Humsavar for DMTN Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs398123025 pathogenic, Hypogonadotropic hypogonadism 20 without anosmia 22,048,128(+) G/A upstream_transcript_variant
rs398123026 pathogenic, Hypogonadotropic hypogonadism 20 with or without anosmia 22,048,158(+) A/G upstream_transcript_variant
rs1000000099 -- 22,069,287(+) A/C intron_variant
rs1000016377 -- 22,075,835(+) A/G intron_variant
rs1000130844 -- 22,074,567(+) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DMTN Gene

Variant ID Type Subtype PubMed ID
dgv12054n54 CNV loss 21841781
esv2759604 CNV loss 17122850
nsv1075123 CNV deletion 25765185
nsv1137353 CNV deletion 24896259
nsv465613 CNV loss 19166990
nsv528590 CNV loss 19592680
nsv610764 CNV loss 21841781
nsv610765 CNV loss 21841781
nsv831263 CNV loss 17160897
nsv951112 CNV deletion 24416366

Variation tolerance for DMTN Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMTN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMTN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMTN Gene

Disorders for DMTN Gene

MalaCards: The human disease database

(4) MalaCards diseases for DMTN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
malaria
  • malaria, susceptibility to
prostate cancer
  • prostate cancer, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search DMTN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DMTN

genes like me logo Genes that share disorders with DMTN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMTN Gene

Publications for DMTN Gene

  1. Cloning of human erythroid dematin reveals another member of the villin family. (PMID: 8341682) Rana AP … Chishti AH (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22 58
  2. Dematin exhibits a natively unfolded core domain and an independently folded headpiece domain. (PMID: 19241372) Chen L … McKnight CJ (Protein science : a publication of the Protein Society 2009) 3 4 22 58
  3. Dematin and adducin provide a novel link between the spectrin cytoskeleton and human erythrocyte membrane by directly interacting with glucose transporter-1. (PMID: 18347014) Khan AA … Chishti AH (The Journal of biological chemistry 2008) 3 4 22 58
  4. A phosphorylation-induced conformation change in dematin headpiece. (PMID: 16472756) Jiang ZG … McKnight CJ (Structure (London, England : 1993) 2006) 3 4 22 58
  5. The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site. (PMID: 14660664) Frank BS … McKnight CJ (The Journal of biological chemistry 2004) 3 4 22 58

Products for DMTN Gene

  • Addgene plasmids for DMTN

Sources for DMTN Gene

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