1. Gene
  2. DMTN - dematin actin binding protein Gene

DMTN - dematin actin binding protein Gene


种属: Homo sapiens

同用名: DMT; EPB49

基因 ID: 2039 | 基因类型: protein coding


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.


该基因编码的蛋白质是一种肌动蛋白结合和成束蛋白,通过以磷酸化依赖性方式稳定血影蛋白/肌动蛋白细胞骨架并将其附着到红细胞膜上,在红细胞中发挥结构性作用。该蛋白质在 N 末端包含一个核心结构域,在 C 末端包含一个结合 F 肌动蛋白的头饰结构域。当从红细胞中纯化时,该蛋白质以由两个 48 kDa 多肽和一个 52 kDa 多肽组成的三聚体形式存在。不同的亚基来自 3' 编码区的可变剪接,耳机域位于此处。该基因的破坏与常染色体显性 Marie Unna 遗传性少毛症相关,而该基因的杂合性缺失被认为在前列腺癌进展中起作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 11 月]

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 基因产物(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

DMTN 蛋白结构


VHP: Villin headpiece domain (370 - 405)

  • 0
  • 100
  • 200
  • 300
  • 405 a.a.
蛋白主名 其他名称


erythrocyte membrane protein band 4.9 (dematin)


疾病名称 别名
Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome


Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic


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


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


Cameroon Fever


Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever


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


Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Hereditary Elliptocytosis

Congenital Elliptocytosis


Elliptocytosis, Hereditary


Elliptocytosis Hereditary

Congenital Ovalocytosis


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



Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

疾病名称 别名
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


种属 基因名 来源 基因 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