1. Gene
  2. CCDC8 - coiled-coil domain containing 8 Gene

CCDC8 - coiled-coil domain containing 8 Gene

中文名称:含卷曲螺旋结构域 8

种属: Homo sapiens

同用名: 3M3; p90; PPP1R20

基因 ID: 83987 | 基因类型: protein coding

关于 CCDC8

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,410,329-46,413,564 (from NCBI)

This gene has 2 transcripts (splice variants), 581 orthologues, 13 paralogues and is associated with 3 phenotypes.

功能概要

该基因编码含有卷曲螺旋结构域的蛋白质。编码的蛋白质作为 DNA 损伤后 p53 介导的细胞凋亡所需的辅因子发挥作用,并且还可能通过与细胞骨架衔接蛋白 obscurin-like 1 的相互作用在生长中发挥作用。该基因的突变是 3M 综合征 3 的原因 ( 3M3) .[RefSeq 提供,2011 年 12 月]

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated Apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

CCDC8 基因产物(1)

mRNA Protein Name
NM_032040.5 NP_114429.2 coiled-coil domain-containing protein 8
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25752541 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
24793695 GOA
involved in regulation of mitotic nuclear division IMP
IMP: 通过突变表型推断
24793695 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of 3M complex IDA
IDA: 通过直接分析推断
24793695 GOA
located in centrosome IDA
IDA: 通过直接分析推断
24793695 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
24793695 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CCDC8 蛋白结构

PNMA

PNMA: PNMA (2 - 78)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 538 a.a.
蛋白主名 其他名称

coiled-coil domain-containing protein 8

protein phosphatase 1, regulatory subunit 20

CCDC8 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CCDC8 Q9H0W5 ANKRA2 Homo sapiens Q9H9E1
ITC
25752541
种属内
CCDC8 Q9H0W5 ANKRA2 Homo sapiens Q9H9E1 25752541
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Three M Syndrome 3

3m Syndrome 3

3M3

3-M Syndrome 3

3m Syndrome-3

3m Syndrome, Type 3

Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Klippel-Feil Syndrome 1
Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Spina Bifida Occulta
Skin Tag

Fibroepithelial Polyp

Fibroepithelial Polyp Of Skin

Soft Fibroma

Skin Tags

Cutaneous Tag

Gardner Fibroma

Acrochordon

Fibroma Molle

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

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
Canis familiaris CCDC8 VGNC VGNC:38857
Bos taurus CCDC8 VGNC VGNC:26917
Rattus norvegicus CCDC8 RGD RGD:1359717
Mus musculus CCDC8 MGD MGI:3612184
Macaca mulatta CCDC8 VGNC VGNC:70858