1. Gene
  2. MUSK - muscle associated receptor tyrosine kinase Gene

MUSK - muscle associated receptor tyrosine kinase Gene

Homo sapiens

Also known as CMS9; FADS; FADS1

Gene ID: 4593 | Gene type: protein coding

About MUSK

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:110,668,791-110,806,558 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 53 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

MUSK Products(4)

mRNA Protein Name
NM_001166280.2 NP_001159752.1 muscle, skeletal receptor tyrosine-protein kinase isoform 2
NM_001166281.2 NP_001159753.1 muscle, skeletal receptor tyrosine-protein kinase isoform 3
NM_001369398.1 NP_001356327.1 muscle, skeletal receptor tyrosine-protein kinase isoform 4
NM_005592.4 NP_005583.1 muscle, skeletal receptor tyrosine-protein kinase isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
22939624 GOA
Biological Process GO Annotation Evidence Reference Source
involved in neuromuscular junction development IDA
IDA: Inferred from direct assay
25537362 GOA
involved in positive regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
25537362 GOA
Cellular Component GO Annotation Evidence Reference Source
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 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

MUSK Protein Structure

I-set

I-set: Immunoglobulin I-set domain (28 - 111)

I-set

I-set: Immunoglobulin I-set domain (121 - 203)

Ig_2

Ig_2: Immunoglobulin domain (215 - 294)

Fz

Fz: Fz domain (317 - 447)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (576 - 856)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 869 a.a.
Protein Preferred Names Protein Names

muscle, skeletal receptor tyrosine-protein kinase

muscle, skeletal, receptor tyrosine kinase

Recombinant MUSK Proteins

Cat. No. Product Name Accession Purity
HY-P72273 MUSK Protein, Human (P.pastoris, His) O15146-2 (L24-I495) ≥95%

Related Diseases

Diseases Alias
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

Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 9

CMS9

Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c

CMS4C

Cms Id

Cms1d

Congenital Myasthenic Syndrome Type Id

Fim1

Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type Id

Cms1d, Formerly

Cms Id, Formerly

Myasthenia, Familial Infantile, 1, Formerly

Fim1, Formerly

Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency

Familial Infantile Myasthenia 1

Cms1e

Cms-Achrd

Cms Ie

Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome Type 1d

Congenital Myasthenic Syndrome Type 1e

Congenital Myasthenic Syndrome Type Ie

Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency

Myasthenia, Familial Infantile, 1

Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Ie

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

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

Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome

Eaton-Lambert Syndrome

Lems

Lambert Eaton Myasthenic Syndrome

Eaton Lambert Syndrome

Lambert Eaton Syndrome

Myasthenic Syndrome Of Lambert-Eaton

Myasthenic-Myopathic Syndrome Of Lambert-Eaton

Lems - [Lambert-Eaton Myasthenic Syndrome]

Neonatal Myasthenia Gravis

Myasthenia Gravis, Neonatal

Thymus Gland Disease

Disease Of Thymus Gland

Immune System Organ Benign Neoplasm
Thymus Lipoma

Thymolipoma

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer

Sclerosteosis 2

SOST2

Sclerosteosis, Type 2

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Autoimmune Disease Of Peripheral Nervous System
Brachial Plexus Neuritis

Brachial Neuritis

Parsonage-Aldren-Turner Syndrome

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Polyhydramnios
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve

Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve

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

Miller Fisher Syndrome

Cranial Variant Of Gbs

Fisher'S Syndrome

Miller-Fisher Variant Of Guillain-Barre Syndrome

Miller-Fisher Syndrome

Cranial Variant Of Guillain-Barré Syndrome

Cranial Variant Of Guillain-Barre Syndrome

Fisher Syndrome

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

Orbital Plasma Cell Granuloma

Orbital Myositis

Orbital Pseudotumor

Pseudotumor Of Orbit

Plasma Cell Granuloma, Orbital

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Internuclear Ophthalmoplegia

Ophthalmoplegia Internuclearis

Bielschowsky-Lutz-Cogan Syndrome

Ino - [Internuclear Ophthalmoplegia]

Lhermitte Syndrome

Mlf - [Medial Longitudinal Fasciculus] Syndrome

Internuclear Paralysis

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

Chronic Orbital Inflammation

Chronic Inflammation Of Orbit

Pigmented Basal Cell Carcinoma

Skin Pigmented Basal Cell Carcinoma

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy

Cidp

Polyradiculoneuropathy Chronic Inflammatory Demyelinating

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Abducens Palsy

Sixth Nerve Palsy

Abducens Nerve Palsy

Abducens Nerve Disease

Abducens Nerve Weakness

Lateral Rectus Muscle Denervation Paresis

Lateral Rectus Muscle Innervation Disorder

Sixth Cranial Nerve Disorder

6th Nerve Palsy

Abducens Nerve Diseases

Vith Nerve Disorder

Vith Nerve Paralysis

Cranial Mononeuropathy Vi

Cranial Nerve Vi Palsy

Sixth Cranial Nerve Palsy

Vi Nerve Palsy

Abducens Nerve Disorder

Abducens Sixth Nerve Palsy

Abducens Nerve Paralysis

Disease Or Disorder Of Abducent Nerve

Sixth Cranial Nerve Disease

Sixth Cranial Nerve Weakness

Disorder Of Sixth Cranial Nerve

Isolated Abducent Nerve Palsy

Atrophy Of Sixth Cranial Nerve

Paralysis Of Sixth Cranial Nerve

Mediastinum Sarcoma

Sarcoma Of Mediastinum

Plexopathy
Glossopharyngeal Nerve Disease

Ninth Cranial Nerve Disease

Glossopharyngeal Nerve Diseases

Disorders Of The Ninth Cranial Nerve

Disorders Of 9th Cranial Nerve

Postpoliomyelitis Syndrome

Postpolio Syndrome

Post-Polio Syndrome

Post Polio Syndrome

Polio Late Effects

Post-Polio Muscular Atrophy

Post-Polio Sequelae

Post-Poliomyelitic Syndrome

Postpolio Sequelae

Postpoliomyelitic Syndrome

Postpoliomyelitis Sequelae

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Invasive Malignant Thymoma

Infiltrating Thymoma

Thymoma Malignant Invasive

Invasive Thymoma And Thymic Carcinoma

Partial Third-Nerve Palsy

Partial Third Nerve Palsy

Third Nerve Palsy With Pupil Sparing

Third Or Oculomotor Nerve Palsy, Partial

Oculomotor Nerve Diseases

Oculomotor Nerve Paralysis

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

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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

Orthologs Information

Species Symbol Source ID
Felis catus MUSK VGNC VGNC:68361
Macaca mulatta MUSK VGNC VGNC:75082
Rattus norvegicus MUSK RGD RGD:3211
Mus musculus MUSK MGD MGI:103581
Bos taurus MUSK VGNC VGNC:31763
Macaca fascicularis MUSK NCBI NCBI:102127677
Others MUSK NCBI