MUSK - muscle associated receptor tyrosine kinase Gene

Also Known as CMS9; FADS; FADS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4593

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22939624	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

Ig_2

Pkinase_Tyr

0
200
400
600
800
869 a.a.

Protein Preferred Names	Protein Names
muscle, skeletal receptor tyrosine-protein kinase	muscle, skeletal, receptor tyrosine kinase

MUSK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MUSK	O15146	CDC37	Homo sapiens	Q16543	BioID	35384245
Intra	MUSK	O15146	CDC37	Homo sapiens	Q16543	Affinity Chrom	35384245

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MUSK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72273	MUSK Protein, Human (P.pastoris, His)	O15146-2 (L24-I495)	≥ 90%, as determined by reducing SDS-PAGE.

MUSK Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85288	MuSK Antibody (YA4980)	IHC-P, ICC/IF, ELISA	Human
HY-P85288A	MuSK Antibody (YA4980)(PBS only)	IHC-P, ICC/IF, ELISA	Human

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

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-A0287	Clomiphene		/	Unkown

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P991066	Adimanebart		99.739%	Phase 2

Pre-clinical Phase

Bioactive Molecules (13)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0633	Muscone	Inhibitor	98.0%	Unkown
HY-15590	AZ-23	Inhibitor	98.92%	Unkown
HY-N3127	Orobol	Inhibitor	99.74%	Unkown
HY-W100026	Galaxolide		76.44%	Unkown
HY-P5438	Srctide	Substrate	99.71%	Unkown
HY-N2045	Musk ketone		99.21%	Unkown
HY-W744618	Ambrettolide		99.53%	Unkown
HY-W721109	(R)-(-)-Muscone	Agonist	98.61%	Unkown
HY-116108	Musk tibetene	Ligand	98.0%	Unkown
HY-RS08852	MUSK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-171982	ATII		/	Unkown
HY-RS17455	Musk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23912	Musk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990473	Anti-MUSK Antibody	Inhibitor	99.81%	Unkown

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
Others	MUSK	NCBI