1. Gene
  2. DOK7 - docking protein 7 Gene

DOK7 - docking protein 7 Gene

中文名称:对接蛋白 7

种属: Homo sapiens

同用名: CMS10; CMS1B; FADS3; C4orf25

基因 ID: 285489 | 基因类型: protein coding

关于 DOK7

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:3,463,306-3,501,482 (from NCBI)

This gene has 7 transcripts (splice variants), 242 orthologues and is associated with 4 phenotypes. Biased expression in heart (RPKM 3.1), testis (RPKM 1.0) and 9 other tissues.

功能概要

由该基因编码的蛋白质对于神经肌肉突触发生至关重要。该蛋白质在肌肉特异性受体激酶的神经激活中起作用,这是突触后分化所必需的,并且在随后的肌管中乙酰胆碱受体聚集中起作用。这种蛋白质还可以诱导肌肉特异性受体激酶的自身磷酸化。该基因的突变是家族性肢带肌无力常染色体隐性遗传的原因,也称为先天性肌无力综合征 1B 型。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 9 月]

The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

DOK7 基因产物(5)

mRNA Protein Name
NM_001164673.2 NP_001158145.1 protein Dok-7 isoform 2
NM_001256896.2 NP_001243825.1 protein Dok-7 isoform 3
NM_001301071.2 NP_001288000.1 protein Dok-7 isoform 4
NM_001363811.2 NP_001350740.1 protein Dok-7 isoform 5
NM_173660.5 NP_775931.3 protein Dok-7 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
32296183 GOA
enables protein kinase binding IDA
IDA: 通过直接分析推断
20603078 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of protein tyrosine kinase activity IDA
IDA: 通过直接分析推断
20603078 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

DOK7 蛋白结构

IRS

IRS: PTB domain (IRS-1 type) (123 - 193)

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

protein Dok-7

downstream of tyrosine kinase 7

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 10

Congenital Myasthenic Syndrome 10

CMS10

Lgm

Myasthenia, Limb-Girdle, Familial

Myasthenia, Limb-Girdle, Familial, Formerly

Lgm, Formerly

Congenital Myasthenic Syndrome Type Ib, Formerly

Cms1b, Formerly

Cms Ib, Formerly

Myasthenic Myopathy, Formerly

Familial Limb-Girdle Myasthenia

Cms1b

Cms Ib

Congenital Myasthenic Syndrome Type 1b

Congenital Myasthenic Syndrome Type Ib

Myasthenic Myopathy

Myasthenic Syndrome, Congenital, Type 10

Congenital Myasthenic Syndrome Ib

Myopathy In Myasthenia Gravis

Fetal Akinesia Deformation Sequence 3

FADS3

Fetal Akinesia Deformation Sequence Syndrome 3

Akinesia, Fetal, Deformation Sequence, Type 3

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

Cylindrical Spirals Myopathy

Myotonic Myopathy With Cylindrical Spirals

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency

Congenital Myasthenic Syndrome 5

CMS5

Ead

Engel Congenital Myasthenic Syndrome

Myasthenic Syndrome, Congenital, Engel Type

Cms Ic

Congenital Myasthenic Syndrome Type Ic

Congenital Myasthenic Syndrome Type Ic, Formerly

Cms1c, Formerly

Cms Ic, Formerly

Congenital Myasthenic Syndrome Engel Type

End Plate Acetylcholinesterase Deficiency

Synaptic Congenital Myasthenic Syndromes

Cms1c

Cmse

Congenital Myasthenic Syndrome Type 1c

End-Plate Acetylcholinesterase Deficiency

Myasthenic Syndrome, Congenital, Type 5

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii

Myasthenic Syndrome, Congenital, 21, Presynaptic

Congenital Myasthenic Syndrome 21

CMS21

Congenital Myasthenic Syndrome 21, Presynaptic

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

Polyhydramnios
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Sclerosteosis 2

SOST2

Sclerosteosis, Type 2

Myasthenic Syndrome, Congenital, 12

Congenital Myasthenic Syndrome 12

CMS12

Myasthenic Syndrome, Congenital, With Tubular Aggregates 1

Cmsta1

Myasthenia, Congenital, 12, With Tubular Aggregates

Congenital Myasthenia 12 With Tubular Aggregates

Limb-Girdle Myasthenia With Tubular Aggregates

Myasthenia, Congenital, With Tubular Aggregates 1

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

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

Myasthenic Syndrome, Congenital, 13

Congenital Myasthenic Syndrome 13

CMS13

Cmsta2

Myasthenic Syndrome, Congenital, With Tubular Aggregates 2

Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates

Congenital Myasthenic Syndrome 13 With Tubular Aggregates

Congenital Myasthenic Syndrome With Tubular Aggregates 2

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2

Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14

CMS14

Cmsta3

Myasthenic Syndrome, Congenital, With Tubular Aggregates 3

Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates

Congenital Myasthenic Syndrome 14, With Tubular Aggregates

Congenital Myasthenic Syndrome With Tubular Aggregates 3

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3

Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Physical Disorder

Physical Illness

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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
Felis catus DOK7 VGNC VGNC:61586
Macaca mulatta DOK7 VGNC VGNC:100219
Rattus norvegicus DOK7 RGD RGD:1566416
Mus musculus DOK7 MGD MGI:3584043
Canis familiaris DOK7 VGNC VGNC:53167
Bos taurus DOK7 VGNC VGNC:53703