SMN2 - survival of motor neuron 2, centromeric Gene

Also Known as SMNC; BCD541; GEMIN1; TDRD16B; C-BCD541

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6607

About SMN2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:70,049,523-70,090,528 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 225 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.2), testis (RPKM 21.9) and 25 other tissues.

Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]

SMN2 Products (4)

mRNA	Protein	Name
NM_017411.4	NP_059107.1	survival motor neuron protein isoform d
NM_022875.3	NP_075013.1	survival motor neuron protein isoform a
NM_022876.2	NP_075014.1	survival motor neuron protein isoform b
NM_022877.2	NP_075015.1	survival motor neuron protein isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	8670859	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10500148	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA-templated transcription termination	IMP IMP: Inferred from mutant phenotype	26700805	GOA
involved in spliceosomal complex assembly	IMP IMP: Inferred from mutant phenotype	9845364	GOA
involved in spliceosomal snRNP assembly	EXP EXP: Inferred from Experiment	12067652	GOA
involved in spliceosomal snRNP assembly	IDA IDA: Inferred from direct assay	18984161	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Cajal body	IDA IDA: Inferred from direct assay	11283611	GOA
located in Gemini of coiled bodies	IDA IDA: Inferred from direct assay	8670859	GOA
part of SMN complex	IDA IDA: Inferred from direct assay	11283611	GOA
part of SMN complex	IPI IPI: Inferred from physical interaction	17178713	GOA
part of SMN-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9845364	GOA
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	18093976	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18984161	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	18093976	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	17068332	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11283611	GOA
located in perikaryon	IDA IDA: Inferred from direct assay	18093976	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

SMN2 Protein Structure

SMN

0
100
200
294 a.a.

Protein Preferred Names	Protein Names
survival motor neuron protein	component of gems 1

Related Diseases

Diseases	Alias
Spinal Muscular Atrophy, Type Iii	SMA3 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease Sma Iii Kugelberg-Welander Syndrome Kws Muscular Atrophy, Juvenile Spinal Muscular Atrophy, Mild Childhood And Adolescent Form Spinal Muscular Atrophy-3 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy, Type Iii, Modifier Of Type Iii Spinal Muscular Atrophy Sma 3 Proximal Spinal Muscular Atrophy Type 3 Sma Type 3 Sma Type Iii Sma-Iii Spinal Muscular Atrophy 3 Spinal Muscular Atrophy Mild Childhood And Adolescent Form Spinal Muscular Atrophy Type Iii Wohlfart-Kugelberg-Welander Disease Atrophy, Muscular, Spinal, Type Iii
Spinal Muscular Atrophy, Type I	Werdnig-Hoffmann Disease SMA1 Spinal Muscular Atrophy 1 Sma I Sma, Infantile Acute Form Muscular Atrophy, Infantile Spinal Muscular Atrophy-1 Hmn Proximal Type I Infantile Muscular Atrophy Proximal Spinal Muscular Atrophy Type 1 Sma Type 1 Sma Type I Sma-I Hereditary Motor Neuropathy Proximal Type I Progressive Muscular Atrophy Of Infancy Proximal Spinal Muscular Atrophy, Type 1 Werdnig Hoffmann Disease Infantile Spinal Muscular Atrophy Infantile-Onset Spinal Muscular Atrophy Proximal Hereditary Motor Neuropathy Type I Sma Infantile Acute Form Spinal Muscular Atrophy Type I Werdnig-Hoffman Disease Atrophy, Muscular, Spinal, Type 1
Spinal Muscular Atrophy, Type Ii	SMA2 Sma Ii Muscular Atrophy, Spinal, Intermediate Type Muscular Atrophy, Spinal, Infantile Chronic Form Intermediate Spinal Muscular Atrophy Spinal Muscular Atrophy Type Ii Spinal Muscular Atrophy-2 Spinal Muscular Atrophy 2 Spinal Muscular Atrophy Type 2 Dubowitz Disease Proximal Spinal Muscular Atrophy Type 2 Sma Type 2 Sma Type Ii Sma-Ii Spinal Muscular Atrophy Infantile Chronic Form Spinal Muscular Atrophy Intermediate Type Spinal Muscular Atrophies Of Childhood Atrophy, Muscular, Spinal, Type Ii Muscular Atrophy, Spinal, Type Ii
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Spinal Muscular Atrophy, Type Iv	SMA4 Spinal Muscular Atrophy, Adult Form Spinal Muscular Atrophy 4 Spinal Muscular Atrophy-4 Adult Spinal Muscular Atrophy Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive Proximal Spinal Muscular Atrophy Type 4 Sma Type 4 Sma Type Iv Sma-Iv Sma Iv Spinal Muscular Atrophy Adult Form Spinal Muscular Atrophy Proximal Adult Autosomal Recessive Spinal Muscular Atrophy Type Iv Atrophy, Muscular, Spinal, Type Iv Myelopathic Muscular Atrophy
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Childhood Spinal Muscular Atrophy	Spinal Muscular Atrophies Of Childhood Survival Motor Neuron Spinal Muscular Atrophy
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Spinal Disease	Spinal Disorder Spinal Diseases
Progressive Muscular Atrophy	Progressive Spinal Muscular Atrophy Pure Progressive Muscular Atrophy Pma Hereditary Spinal Muscle Atrophy Pma - [Progressive Muscular Atrophy] Progressive Muscle Atrophy Progressive Spinal Muscle Atrophy Duchenne-Aran Atrophy Duchenne-Aran Muscle Atrophy Hereditary Sma - [Spinal Muscle Atrophy]
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Smard1 DSMA1 Sianrf Dhmn6 Spinal Muscular Atrophy With Respiratory Distress 1 HMN6 Severe Infantile Axonal Neuropathy With Respiratory Failure Autosomal Recessive Distal Spinal Muscular Atrophy 1 Diaphragmatic Spinal Muscular Atrophy Spinal Muscular Atrophy With Respiratory Distress Type 1 Neuronopathy, Distal Hereditary Motor, Type Vi Hmn Vi Neuronopathy, Severe Infantile Axonal, With Respiratory Failure Distal Spinal Muscular Atrophy 1 Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress Distal Hereditary Motor Neuropathy Type 6 Distal-Hmn Type 6 Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1 Spinal Muscular Atrophy, Diaphragmatic Distal Hereditary Motor Neuronopathy Type Vi Distal Spinal Muscular Atrophy Type 1 Hmnvi Spinal Muscular Atrophy With Respiratory Distress Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 Neuronopathy, Distal Hereditary Motor, 6 Dhmn Vi Distal Hereditary Motor Neuropathy Type Vi Severe Infantile Axonal Neuronopathy With Respiratory Failure Spinal Muscular Atrophy Distal Autosomal Recessive 1 Atrophy, Muscular, Spinal, Distal, Type 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Spinal Muscular Atrophy Type 0	Very Severe Spinal Muscular Atrophy
Autosomal Recessive Distal Hereditary Motor Neuronopathy	Autosomal Recessive Distal Spinal Muscular Atrophy
Ceroid Lipofuscinosis, Neuronal, 7	CLN7 Neuronal Ceroid Lipofuscinosis 7 Cln7 Disease Cln7 Disease, Late Infantile Mfsd8-Related Neuronal Ceroid Lipofuscinosis Turkish Variant Late Infantile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 7
Muscle Tissue Disease
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Jankovic-Rivera Syndrome SMAPME Sma-Pme Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome Hereditary Myoclonus With Progressive Distal Muscular Atrophy Jankovic Rivera Syndrome Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy Myoclonus Hereditary Progressive Distal Muscular Atrophy Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
Spinal Muscular Atrophy, X-Linked 2	SMAX2 Arthrogryposis Multiplex Congenita, Distal, X-Linked Infantile-Onset X-Linked Spinal Muscular Atrophy Xlsma Amcx1 Spinal Muscular Atrophy, X-Linked Lethal Infantile Spinal Muscular Atrophy, Infantile X-Linked Amc, Distal, X-Linked Spinal Muscular Atrophy, X-Linked 2, Infantile X-Linked Spinal Muscular Atrophy 2 Spinal Muscular Atrophy With Arthrogryposis X-Linked Distal Arthrogryposis Multiplex Congenita X-Linked Spinal Muscular Atrophy Type 2 Xl-Sma Arthrogryposis, X-Linked, Type I Spinal Muscular Atrophy, X-Linked Infantile X-Linked Infantile Spinal Muscular Atrophy Arthrogryposis, X-Lined, Type I Distal X-Linked Amc Infantile X-Linked Sma X-Linked Arthrogryposis Multiplex Congenita X-Linked Arthrogryposis Type I X-Linked Lethal Infantile Sma Arthrogryposis Spinal Muscular Atrophy Spinal Muscular Atrophy X-Linked 2 Amc Distal X-Linked Arthrogryposis Multiplex Congenita Distal X-Linked Arthrogryposis X-Linked Type I Spinal Muscular Atrophy Infantile X-Linked Spinal Muscular Atrophy X-Linked Lethal Infantile Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile
Dubowitz Syndrome	Dubowitz'S Syndrome Dwarfism-Eczema-Peculiar Facies Syndrome Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
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
Muscular Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Familial Dysautonomia Riley-Day Syndrome Dysautonomia, Familial HSAN3 Hsan Iii Fd Hereditary Sensory And Autonomic Neuropathy Type Iii Dys Hereditary Sensory And Autonomic Neuropathy 3 Riley Day Syndrome Familial Autonomic Nervous Dysfunction Hereditary Sensory Autonomic Neuropathy Type Iii Hsan 3 Hsn 3 Hereditary Sensory Neuropathy Type 3 Hsan Type Iii Hsn-Iii Hereditary Sensory And Autonomic Neuropathy Type 3 Neuropathy, Hereditary Sensory And Autonomic, 3 Hsn Iii Dysautonomia Familial Neuropathy, Sensory And Autonomic, Hereditary, Type Iii Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
46,Xy Sex Reversal 1	SRXY1 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46,Xy Sex Reversal, Sry-Related Swyer Syndrome 46xy Sex Reversal 1 46,Xy Gonadal Dysgenesis Complete Sry-Related 46,Xy Sex Reversal Sry-Related 46,Xy True Hermaphroditism Sry-Related Gonadal Dysgenesis Xy Female Type Xy Females 46,Xy True Hermaphroditism, Sry-Related Gonadal Dysgenesis, 46,Xy 46, Xy Female
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Anterior Horn Cell Disease
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Cardiomyopathy, Dilated, 2a	Dilated Cardiomyopathy 2a CMD2A Cardiomyopathy, Dilated, Autosomal Recessive Cardiomyopathy, Congestive, Autosomal Recessive Cardiomyopathy, Dilated 2a Cardiomyopathy, Dilated, Type 2a Autosomal Recessive Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 1ff	Dilated Cardiomyopathy 1ff CMD1FF Cardiomyopathy, Dilated 1ff Cardiomyopathy, Dilated, Type 1ff
Cytomegalovirus Retinitis	Cmv Retinitis
Amyloidosis, Hereditary, Transthyretin-Related	Transthyretin Amyloidosis Familial Amyloid Polyneuropathy Ttr Amyloid Neuropathy Transthyretin Amyloid Neuropathy Transthyretin Amyloid Polyneuropathy Fap Familial Transthyretin Amyloidosis Amyloidosis Transthyretin Related Type I Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy Type I Attrv122i Amyloidosis Hereditary Amyloidosis, Transthyretin-Related Amyloid Polyneuropathy, Familial Attr Amyloidosis Attrm Amyloidosis Corino De Andrade'S Disease Paramyloidosis Transthyretin-Related Hereditary Amyloidosis Ttr Amyloidosis Hereditary Attr Amyloidosis Portuguese Polyneuritic Amyloidosis Portuguese Type Familial Amyloid Neuropathy Swiss Type Amyloid Polyneuropathy Type Ii Familial Amyloid Polyneuropathy Attrv30m Amyloidosis Attrv30m-Related Amyloidosis Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type Attr Cardiomyopathy Attrv122i-Related Amyloidosis Ttr-Related Amyloid Cardiomyopathy Ttr-Related Cardiac Amyloidosis Transthyretin Amyloid Cardiopathy Transthyretin-Related Familial Amyloid Cardiomyopathy Amyloidosis, Transthyretin-Related AMYL-TTR Amyloidosis I Amyloidosis Ohio Type Amyloidosis Type 7 Amyloidosis Vii Amyloid Polyneuropathy Attr Familial Amyloid Polyneuropathy Type Ii Hereditary Amyloidosis Transthyretin-Related Leptomeningeal Amyloidosis Meningocerebrovascular Amyloidosis Oculoleptomeningeal Amyloidosis Familial Amyloid Polyneuropathies Amyloidosis, Leptomeningeal Senile Cardiac Amyloidosis Amyloid Neuropathies, Familial Danish Type Familial Amyloid Cardiomyopathy Familial Amyloid Neuropathy, Portuguese Type Amyloid Polyneuropathy, Swiss Type Hereditary Oculoleptomeningeal Amyloid Angiopathy Amyloid Neuropathies
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Bone Structure Disease
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
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]
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Myopathy	Muscular Diseases Myopathies
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109101	Risdiplam		99.64%	Unkown
HY-112980A	Nusinersen sodium		99.10%	Unkown
HY-112980	Nusinersen	Activator	98.91%	Unkown

Clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19620	Branaplam		98.90%	Phase 2
HY-19620A	Branaplam hydrochloride		99.43%	Phase 2
HY-101792	RG7800	Modulator	99.88%	Phase 1
HY-101792A	RG7800 tetrahydrochloride	Modulator	99.79%	Phase 1

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112633	SMN-C3	Modulator	99.48%	Unkown
HY-117389	Homocarbonyltopsentin		99.82%	Unkown
HY-111520	NVS-SM2	Agonist	99.15%	Unkown
HY-124648	SMN-C2		98.85%	Unkown
HY-102020A	RG3039 hydrochloride		98.15%	Unkown
HY-109101S	Risdiplam-d4		98.88%	Unkown
HY-109101AS1	Risdiplam-hydroxylate-d3		/	Unkown
HY-109101AS2	Risdiplam-hydroxylate-d6		/	Unkown
HY-117000	D156844	Agonist	/	Unkown
HY-117000A	D156844 hydrochloride	Agonist	/	Unkown
HY-121473	Aklavin	Inhibitor	/	Unkown
HY-124640	SMN2 modulator-1	Modulator	/	Unkown
HY-RS05838	Grm7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13439	SMN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMN2	MGD	MGI:109257