RAPSN - receptor associated protein of the synapse Gene

Homo sapiens

Also known as FADS; CMS11; CMS4C; FADS2; RAPSYN; RNF205

Gene ID: 5913 | Gene type: protein coding

About RAPSN

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,437,764-47,449,136 (from NCBI)

This gene has 5 transcripts (splice variants), 195 orthologues, 6 paralogues and is associated with 6 phenotypes. Biased expression in placenta (RPKM 1.3), prostate (RPKM 0.9) and 7 other tissues.

Summary

This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic Cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

RAPSN Products(2)

mRNA	Protein	Name
NM_005055.5	NP_005046.2	43 kDa receptor-associated protein of the synapse isoform 1
NM_032645.5	NP_116034.2	43 kDa receptor-associated protein of the synapse isoform 2

RAPSN Protein Structure

Rapsyn_N

TPR_1

TPR_8

TPR_12

zf-RING_2

0
100
200
300
412 a.a.

Protein Preferred Names

Protein Names

43 kDa receptor-associated protein of the synapse

43 kda postsynaptic protein

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 11	CMS11
Cms Ie	Cms1e
Myasthenic Syndrome, Congenital, Ie	Myasthenic Syndrome, Congenital, Ie, Formerly
Cms1e, Formerly	Cms Ie, Formerly
Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 1e
Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency

Fetal Akinesia Deformation Sequence 2

FADS2	Fetal Akinesia Deformation Sequence Syndrome 2
Akinesia, Fetal, Deformation Sequence, Type 2

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

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

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

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]

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

Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Hydrops Fetalis, Nonimmune

Hydrops Fetalis	Non-Immune Hydrops Fetalis
NIHF	Familial Non-Immune Hydrops Fetalis
Hydrops Fetalis Nonimmune	Idiopathic Hydrops Fetalis
Hb Bart'S Hydrops Fetalis	Alpha-Thalassemia Hydrops Fetalis
Alpha-Thalassemia Major	Hemoglobin Bart'S Hydrops Fetalis
Homozygous Alpha0-Thalassemia	Fetal Anasarca
Fetal Hydrops	Generalized Fetal Edema
Hf	Non-Immune Hf
Non-Immune Fetal Edema	Non-Immune Fetal Hydrops
Hydrops Fetalis, Non-Immune	Hemoglobin Bart'S Hydrops Syndrome

Myasthenia Gravis

MG	Acquired Myasthenia
Autoimmune Myasthenia Gravis	Erb-Goldflam Disease
Mg - [Myasthenia Gravis]	Myasthenia Gravis Nos
Myasthenia

Multiple Pterygium Syndrome, Lethal Type

LMPS	Lethal Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Lethal Type	Multiple Pterygium Syndrome Lethal Type
Pterygium Syndrome Multiple Lethal Type	Autosomal Recessive Lethal Multiple Pterygium Syndrome

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Myopathy

Muscular Diseases

Myopathies

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

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

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

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

Polyhydramnios

Marcus Gunn Phenomenon

Jaw-Winking Syndrome	Marcus-Gunn Syndrome
Jaw-Winking	Maxillopalpebral Synkinesis
Abnormal Innervation Syndrome Of Eyelid	Jaw-Blinking
Pterygoid-Levator Synkinesis	Familial Marcus Gunn Phenomenon
Marcus Gunn Syndrome	Mandibulo-Palpebral Synkinesis-Ptosis Syndrome
Marcus-Gunn Phenomenon

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

Neonatal Myasthenia Gravis

Myasthenia Gravis, Neonatal

Cystic Lymphangioma

Cystic Hygroma	Cavernous Lymphangioma
Macrocystic Lymphatic Malformation	Cavernous Lymphatic Malformation
Macrocystic Lymphangioma	Lymphangioma, Cystic

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

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Lymphedema-Distichiasis Syndrome

Lymphedema With Distichiasis	Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus
LPHDST	Distichiasis-Lymphedema Syndrome
Lymphedema Distichiasis Syndrome	Hereditary Lymphedema-Distichiasis Syndrome
Lymphedema Distichiasis

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

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-RS11668	RAPSN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RAPSN	VGNC	VGNC:33728
Felis catus	RAPSN	VGNC	VGNC:69239
Rattus norvegicus	RAPSN	RGD	RGD:1311592
Mus musculus	RAPSN	MGD	MGI:99422
Macaca mulatta	RAPSN	VGNC	VGNC:76661
Canis familiaris	RAPSN	VGNC	VGNC:45350

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