1. Gene
  2. MYF5 - myogenic factor 5 Gene

MYF5 - myogenic factor 5 Gene

中文名称:生肌因子 5

种属: Homo sapiens

同用名: EORVA; bHLHc2

基因 ID: 4617 | 基因类型: protein coding

关于 MYF5

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:80,716,912-80,719,671 (from NCBI)

This gene has 1 transcript (splice variant), 200 orthologues, 3 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

预测可实现 DNA 结合转录因子活性、RNA 聚合酶 II 特异性和 RNA 聚合酶 II 顺式调节区序列特异性 DNA 结合活性。预计有助于 E-box 绑定活动。预计参与多个过程,包括肌肉细胞命运决定;细胞分化的正调控;和骨骼肌细胞分化。预计在几个过程的上游或内部起作用,包括动物器官发育;调节细胞-基质粘附;和体细胞发生。位于核质中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including animal organ development; regulation of cell-matrix adhesion; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MYF5 基因产物(1)

mRNA Protein Name
NM_005593.3 NP_005584.2 myogenic factor 5
基因本体论
  • 分子功能
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
19829708 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

MYF5 蛋白结构

Basic

Basic: Myogenic Basic domain (1 - 83)

HLH

HLH: Helix-loop-helix DNA-binding domain (84 - 135)

Myf5

Myf5: Myogenic determination factor 5 (143 - 214)

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

myogenic factor 5

class C basic helix-loop-helix protein 2

MYF5 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
Intra MYF5 P13349 ZNF250 Homo sapiens P15622-3
Validated Y2H
32296183
Intra MYF5 P13349 PACRGL Homo sapiens Q8N7B6-2
Validated Y2H
32296183
Intra MYF5 P13349 CCDC13 Homo sapiens Q8IYE1
Validated Y2H
32296183
Intra MYF5 P13349 ITGB4 Homo sapiens P16144-2
Validated Y2H
32296183
Intra MYF5 P13349 TLE5 Homo sapiens Q08117-2
Validated Y2H
32296183
Intra MYF5 P13349 TCEANC Homo sapiens Q8N8B7-2
Validated Y2H
32296183
Intra MYF5 P13349 FIGLA Homo sapiens Q6QHK4
Validated Y2H
32296183
Intra MYF5 P13349 FAM124B Homo sapiens Q9H5Z6-2
Validated Y2H
32296183
Intra MYF5 P13349 ID1 Homo sapiens P41134
Validated Y2H
32296183
Intra MYF5 P13349 ID3 Homo sapiens Q02535
Validated Y2H
32296183
Intra MYF5 P13349 ZNF575 Homo sapiens Q86XF7
Validated Y2H
32296183
Intra MYF5 P13349 ANKRD11 Homo sapiens X5D778
Validated Y2H
32296183
Intra MYF5 P13349 SCX Homo sapiens Q7RTU7
Validated Y2H
32296183
Intra MYF5 P13349 RARG Homo sapiens P13631
Validated Y2H
32296183
Intra MYF5 P13349 NHLH2 Homo sapiens Q02577
Validated Y2H
32296183
Intra MYF5 P13349 ZNF835 Homo sapiens Q9Y2P0
Validated Y2H
32296183
Intra MYF5 P13349 ZNF587 Homo sapiens Q96SQ5
Validated Y2H
32296183
Intra MYF5 P13349 PIN1 Homo sapiens Q13526
Validated Y2H
32296183
Intra MYF5 P13349 C14orf119 Homo sapiens Q9NWQ9
Validated Y2H
32296183
Intra MYF5 P13349 ZNF417 Homo sapiens Q8TAU3
Validated Y2H
32296183
Intra MYF5 P13349 CHIC2 Homo sapiens Q9UKJ5
Validated Y2H
32296183
Intra MYF5 P13349 SGF29 Homo sapiens Q96ES7
Validated Y2H
32296183
Intra MYF5 P13349 ENKD1 Homo sapiens Q9H0I2
Validated Y2H
32296183
Intra MYF5 P13349 AQP1 Homo sapiens P29972
Validated Y2H
32296183
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
Ophthalmoplegia, External, With Rib And Vertebral Anomalies

EORVA

Scoliosis
Rhabdomyosarcoma
Oral Rhabdomyosarcoma
Torticollis

Contracture Of Neck

Wry Neck

Wry Neck/Torticollis

Skeletal Muscle Neoplasm

Tumor Of Skeletal Muscle

Pleomorphic Rhabdomyosarcoma

Adult Pleomorphic Rhabdomyosarcoma

Anaplastic Rhabdomyosarcoma

Pleomorphic Rhabdomyosarcoma, Adult Type

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Lipomatosis, Multiple Symmetric

Multiple Symmetric Lipomatosis

Lipomatosis, Familial Benign Cervical

Lipomatosis, Multiple Symmetrical

Lipodystrophy, Cephalothoracic

Benign Symmetrical Lipomatosis

Madelung Disease

Madelung'S Disease

MSL

Cervical Symmetrical Lipomatosis

Launois-Bensaude'S Lipomatosis

Madelung'S Neck

Multiple Symmetrical Lipomatosis

Familial Symmetric Lipomatosis

Launois-Bensaude Syndrome

Cephalothoracic Lipodystrophy

Familial Benign Cervical Lipomatosis

Launois-Bensaude Lipomatosis

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Botryoid Rhabdomyosarcoma

Sarcoma Botryoides

Botryoid Sarcoma

Botryoid-Type Embryonal Rhabdomyosarcoma

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Lipomatosis

Benign Symmetrical Lipomatosis

Muscular Disease
Muscle Tissue Disease
Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Myopathy

Muscular Diseases

Myopathies

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
Rattus norvegicus MYF5 RGD RGD:1308322
Bos taurus MYF5 VGNC VGNC:31792
Macaca mulatta MYF5 VGNC VGNC:75095
Canis familiaris MYF5 VGNC VGNC:43533
Felis catus MYF5 VGNC VGNC:68377
Mus musculus MYF5 MGD MGI:97252