DOK7 - docking protein 7 Gene

Homo sapiens

Also known as CMS10; CMS1B; FADS3; C4orf25

Gene ID: 285489 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	20603078	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of protein tyrosine kinase activity	IDA IDA: Inferred from direct assay	20603078	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOK7 Protein Structure

IRS

0
100
200
300
400
504 a.a.

Protein Preferred Names

Protein Names

protein Dok-7

downstream of tyrosine kinase 7

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03939	DOK7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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