1. Gene
  2. DCTN2 - dynactin subunit 2 Gene

DCTN2 - dynactin subunit 2 Gene

中文名称:动力蛋白亚基 2

种属: Homo sapiens

同用名: RBP50; DCTN50; HEL-S-77; DYNAMITIN

基因 ID: 10540 | 基因类型: protein coding

关于 DCTN2

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,530,051-57,547,192 (from NCBI)

This gene has 33 transcripts (splice variants) and 214 orthologues. Ubiquitous expression in brain (RPKM 42.2), esophagus (RPKM 36.9) and 25 other tissues.

功能概要

该基因编码 dynactin 的 50-kD 亚基,dynactin 是一种大分子复合物,由 10-11 个亚基组成,大小从 22 到 150 kD 不等。 Dynactin 与微管和细胞质动力蛋白结合。它参与多种细胞功能,包括内质网到高尔基体的转运、溶酶体和核内体的向心运动、纺锤体形成、染色体运动、核定位和轴突发生。该亚基以每个动力蛋白分子 4-5 个拷贝的形式存在。它包含三个短的 alpha 螺旋卷曲螺旋结构域,可以介导与自身或其他 dynactin 亚基的关联。它可能直接与 dynactin 的最大亚基 (p150) 相互作用,并可能将 p150 固定到位。已经为该基因发现了编码不同亚型的多个选择性剪接的转录物变体。[RefSeq 提供,2012 年 5 月]

This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]

DCTN2 基因产物(7)

mRNA Protein Name
NM_001261412.2 NP_001248341.1 dynactin subunit 2 isoform 2
NM_001261413.2 NP_001248342.1 dynactin subunit 2 isoform 3
NM_001348065.2 NP_001334994.1 dynactin subunit 2 isoform 4
NM_001348066.2 NP_001334995.1 dynactin subunit 2 isoform 5
NM_001348067.2 NP_001334996.1 dynactin subunit 2 isoform 6
NM_001348068.2 NP_001334997.1 dynactin subunit 2 isoform 6
NM_006400.5 NP_006391.1 dynactin subunit 2 isoform 1

DCTN2 蛋白结构

Dynamitin

Dynamitin: Dynamitin (12 - 399)

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

dynactin subunit 2

50 kDa dynein-associated polypeptide

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B

Hmn Viib

Dhmn7b

Neuropathy, Distal Hereditary Motor, Type Viib

Distal Hereditary Motor Neuronopathy Type 7b

Distal Hereditary Motor Neuropathy Type Viib

Neuronopathy, Distal Hereditary Motor, Type 7b

Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib

Lower Motor Neuron Disease, Dynactin Type

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b

Harper-Young Myopathy

Neuronopathy, Distal Hereditary Motor, 7b

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib

Lower Motor Neuron Disease Dynactin Type

Plmnd

Progressive Lower Motor Neuron Disease

Neuropathy, Motor, Distal, Hereditary, Type Viib

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7

Dhmnvpy

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DCTN2 VGNC VGNC:71751
Felis catus DCTN2 VGNC VGNC:61378
Canis familiaris DCTN2 VGNC VGNC:39817
Rattus norvegicus DCTN2 RGD RGD:1303182
Mus musculus DCTN2 MGD MGI:107733
Bos taurus DCTN2 VGNC VGNC:27929