DOK7 - docking protein 7 Gene

Also Known as CMS10; CMS1B; FADS3; C4orf25

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285489

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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03939	DOK7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21324	Dok7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27843	Dok7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DOK7	NCBI