DMTN - dematin actin binding protein Gene

Also Known as DMT; EPB49

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2039

About DMTN

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,048,931-22,082,525 (from NCBI)

This gene has 23 transcripts (splice variants), 251 orthologues and 3 paralogues. Broad expression in brain (RPKM 41.4), bone marrow (RPKM 23.9) and 18 other tissues.

Summary

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]

DMTN Products (53)

mRNA Protein Name
NM_001114135.5 NP_001107607.1 dematin isoform 1
NM_001114136.3 NP_001107608.1 dematin isoform 1
NM_001114137.4 NP_001107609.1 dematin isoform 2
NM_001114138.3 NP_001107610.1 dematin isoform 2
NM_001114139.4 NP_001107611.1 dematin isoform 3
NM_001302816.3 NP_001289745.1 dematin isoform 2
NM_001302817.3 NP_001289746.1 dematin isoform 4
NM_001323378.2 NP_001310307.1 dematin isoform 1
NM_001323379.2 NP_001310308.1 dematin isoform 1
NM_001323380.2 NP_001310309.1 dematin isoform 1
NM_001323381.2 NP_001310310.1 dematin isoform 1
NM_001323382.2 NP_001310311.1 dematin isoform 1
NM_001323383.2 NP_001310312.1 dematin isoform 2
NM_001323384.2 NP_001310313.1 dematin isoform 2
NM_001323385.2 NP_001310314.1 dematin isoform 2
NM_001323387.2 NP_001310316.1 dematin isoform 3
NM_001323388.2 NP_001310317.1 dematin isoform 4
NM_001323389.2 NP_001310318.1 dematin isoform 5
NM_001323390.2 NP_001310319.1 dematin isoform 5
NM_001323391.2 NP_001310320.1 dematin isoform 6
NM_001323392.2 NP_001310321.1 dematin isoform 6
NM_001323393.2 NP_001310322.1 dematin isoform 6
NM_001323394.2 NP_001310323.1 dematin isoform 6
NM_001323395.2 NP_001310324.1 dematin isoform 6
NM_001323396.2 NP_001310325.1 dematin isoform 6
NM_001323397.2 NP_001310326.1 dematin isoform 6
NM_001323398.2 NP_001310327.1 dematin isoform 7
NM_001323399.2 NP_001310328.1 dematin isoform 7
NM_001323400.2 NP_001310329.1 dematin isoform 7
NM_001323401.2 NP_001310330.1 dematin isoform 7
NM_001387723.1 NP_001374652.1 dematin isoform 6
NM_001387726.1 NP_001374655.1 dematin isoform 2
NM_001387727.1 NP_001374656.1 dematin isoform 1
NM_001387728.1 NP_001374657.1 dematin isoform 2
NM_001387730.1 NP_001374659.1 dematin isoform 1
NM_001387732.1 NP_001374661.1 dematin isoform 1
NM_001387734.1 NP_001374663.1 dematin isoform 2
NM_001387735.1 NP_001374664.1 dematin isoform 1
NM_001387736.1 NP_001374665.1 dematin isoform 3
NM_001387737.1 NP_001374666.1 dematin isoform 8
NM_001387742.1 NP_001374671.1 dematin isoform 2
NM_001387743.1 NP_001374672.1 dematin isoform 5
NM_001387744.1 NP_001374673.1 dematin isoform 4
NM_001387745.1 NP_001374674.1 dematin isoform 8
NM_001387750.1 NP_001374679.1 dematin isoform 1
NM_001387751.1 NP_001374680.1 dematin isoform 1
NM_001387752.1 NP_001374681.1 dematin isoform 3
NM_001387753.1 NP_001374682.1 dematin isoform 1
NM_001387754.1 NP_001374683.1 dematin isoform 4
NM_001387755.1 NP_001374684.1 dematin isoform 2
NM_001387756.1 NP_001374685.1 dematin isoform 3
NM_001387757.1 NP_001374686.1 dematin isoform 3
NM_001978.5 NP_001969.2 dematin isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables actin binding IDA
IDA: Inferred from direct assay
19241372 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18347014 GOA
enables signaling receptor binding IDA
IDA: Inferred from direct assay
18347014 GOA
enables spectrin binding IDA
IDA: Inferred from direct assay
22927433 GOA
Biological Process GO Annotation Evidence References Source
involved in actin filament bundle assembly IDA
IDA: Inferred from direct assay
19241372 GOA
involved in cellular response to cAMP IDA
IDA: Inferred from direct assay
22927433 GOA
involved in protein-containing complex assembly IDA
IDA: Inferred from direct assay
18347014 GOA
involved in regulation of actin cytoskeleton organization IDA
IDA: Inferred from direct assay
22927433 GOA
involved in regulation of cell shape IMP
IMP: Inferred from mutant phenotype
10565303 GOA
involved in regulation of filopodium assembly IMP
IMP: Inferred from mutant phenotype
10565303 GOA
involved in regulation of lamellipodium assembly IMP
IMP: Inferred from mutant phenotype
10565303 GOA
Cellular Component GO Annotation Evidence References Source
located in actin filament IDA
IDA: Inferred from direct assay
22927433 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
18347014 GOA
located in cytosol IDA
IDA: Inferred from direct assay
23060452 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23060452 GOA
located in platelet dense tubular network membrane IDA
IDA: Inferred from direct assay
23060452 GOA
located in spectrin-associated cytoskeleton IDA
IDA: Inferred from direct assay
22927433 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMTN Protein Structure

VHP

VHP: Villin headpiece domain (370 - 405)

  • 0
  • 100
  • 200
  • 300
  • 405 a.a.
Protein Preferred Names Protein Names

dematin

  • erythrocyte membrane protein band 4.9 (dematin)

DMTN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DMTN Q08495 TEX11 Homo sapiens Q8IYF3-3
Y2H Prey Pooling
32296183
Intra
DMTN Q08495 TEX11 Homo sapiens Q8IYF3-3
Validated Y2H
32296183
Intra
DMTN Q08495 TEX11 Homo sapiens Q8IYF3-3
Y2H Array
32296183
Intra
DMTN Q08495 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra
DMTN Q08495 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra
DMTN Q08495 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra
DMTN Q08495 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
Intra
DMTN Q08495 CEP76 Homo sapiens Q8TAP6
Validated Y2H
32296183
Intra
DMTN Q08495 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
Intra
DMTN Q08495 CEP76 Homo sapiens Q8TAP6
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hereditary Spherocytosis

  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic
Hypotrichosis
Malaria

  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria
Hemolytic Anemia

  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect
Hereditary Elliptocytosis

  • Congenital Elliptocytosis

  • Ovalocytosis

  • Elliptocytosis, Hereditary

  • He

  • Elliptocytosis Hereditary

  • Congenital Ovalocytosis

  • Elliptocytosis

  • Hereditary Elliptocytosis With Infantile Poikilocytosis

  • Hereditary Ovalocytosis

  • Oval Erythrocytosis

  • He - [Hereditary Elliptocytosis]

  • Elliptocytosis Anaemia
Prostate Cancer

  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03834 DMTN Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22141 Dmtn Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28662 Dmtn Rat Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta DMTN VGNC VGNC:72032
Bos taurus DMTN VGNC VGNC:56943
Canis familiaris DMTN VGNC VGNC:40005
Mus musculus DMTN MGD MGI:99670
Felis catus DMTN VGNC VGNC:61533
Rattus norvegicus DMTN RGD RGD:1311419
Others DMTN NCBI