IGHMBP2 - immunoglobulin mu DNA binding protein 2 Gene

Also Known as HCSA; HMN6; CATF1; CMT2S; SMARD1; SMUBP2; ZFAND7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3508

About IGHMBP2

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:68,903,891-68,940,601 (from NCBI)

This gene has 51 transcripts (splice variants), 188 orthologues, 10 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 9.6), endometrium (RPKM 3.4) and 25 other tissues.

Summary

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

IGHMBP2 Products (1)

mRNA	Protein	Name
NM_002180.3	NP_002171.2	DNA-binding protein SMUBP-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-3' DNA helicase activity	IDA IDA: Inferred from direct assay	19158098	GOA
enables 5'-3' RNA helicase activity	IDA IDA: Inferred from direct assay	19158098	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	19158098	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	22965130	GOA
enables ATP-dependent activity, acting on DNA	IDA IDA: Inferred from direct assay	19158098	GOA
enables ATP-dependent activity, acting on RNA	IDA IDA: Inferred from direct assay	19158098	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	19158098	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	19158098	GOA
enables double-stranded DNA helicase activity	IDA IDA: Inferred from direct assay	30218034	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19299493	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19299493	GOA
enables ribosome binding	IDA IDA: Inferred from direct assay	19158098	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	30218034	GOA
enables single-stranded RNA binding	IDA IDA: Inferred from direct assay	22965130	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	19299493	GOA
enables transcription factor binding	IPI IPI: Inferred from physical interaction	19299493	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA duplex unwinding	IDA IDA: Inferred from direct assay	19158098	GOA
involved in RNA secondary structure unwinding	IDA IDA: Inferred from direct assay	19158098	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19299493	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19299493	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

IGHMBP2 Protein Structure

AAA_11

AAA_12

R3H

zf-AN1

0
200
400
600
800
993 a.a.

Protein Preferred Names	Protein Names
DNA-binding protein SMUBP-2	ATP-dependent helicase IGHMBP2

Related Diseases

Diseases	Alias
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
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
Charcot-Marie-Tooth Hereditary Neuropathy	Distal Spinal Muscular Atrophy Distal Hereditary Motor Neuropathy Dhmn Hereditary Motor/Sensory Neuropathy Hmsn Dsma Distal Hereditary Motor Neuropathies Spinal Muscular Atrophy Distal Neuropathy, Motor, Distal, Hereditary Charcot-Marie-Tooth Disease
Neuronopathy, Distal Hereditary Motor, Type I	Dhmn1 Hmn I Distal Hereditary Motor Neuronopathy Type 1 Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1 Neuronopathy, Distal Hereditary Motor, Type 1 HMN1 Neuropathy, Distal Hereditary Motor, Type I Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I Charcot-Marie-Tooth Disease, Spinal, I Distal Hereditary Motor Neuropathy Type I Spinal Charcot-Marie-Tooth Disease 1 Distal Hereditary Motor Neuropathy Type 1 Neuropathy, Motor, Distal, Hereditary, Type I
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]
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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
Autosomal Recessive Distal Hereditary Motor Neuronopathy	Autosomal Recessive Distal Spinal Muscular Atrophy
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
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
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Cardiomyopathy, Dilated, 1hh	Dilated Cardiomyopathy 1hh CMD1HH Cardiomyopathy, Dilated 1hh Cardiomyopathy, Dilated, Type 1hh
Pontocerebellar Hypoplasia, Type 10	Pontocerebellar Hypoplasia Type 10 PCH10 Clp1-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia 10 Hypoplasia, Pontocerebellar, Type 10
Spinal Muscular Atrophy With Lower Extremity Predominant	Spinal Muscular Atrophy With Lower Extremity Predominance Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures Kugelberg-Welander Syndrome, Autosomal Dominant Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures Sma-Led Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Dominant
Neuronopathy, Distal Hereditary Motor, Type Iib	HMN2B Hmn Iib Neuropathy, Distal Hereditary Motor, Type Iib Dhmn2b Distal Hereditary Motor Neuropathy Type 2b Distal Hereditary Motor Neuropathy Type Iib Neuronopathy, Distal Hereditary Motor, Type 2b Neuronopathy, Distal Hereditary Motor, 2b Dhmn Ii Neuropathy, Motor, Distal, Hereditary, Type 2b
Charcot-Marie-Tooth Disease Type 2a2a	Charcot-Marie-Tooth Disease, Type 2a2a Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 Charcot-Marie-Tooth Neuronal Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2a2 Cmt2a2a Hereditary Motor And Sensory Neuropathy Iia2 Hmsn Iia2 Hmsn2a2
Childhood Spinal Muscular Atrophy	Spinal Muscular Atrophies Of Childhood Survival Motor Neuron Spinal Muscular Atrophy
Charcot-Marie-Tooth Disease, Axonal, Type 2t	CMT2T Charcot-Marie-Tooth Disease Axonal Type 2t Charcot-Marie-Tooth Neuropathy, Type 2t Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t Ar-Cmt2t Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy Type 2t Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Cmt2 Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Disease 2t Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Anterior Horn Cell Disease
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic Lateral Sclerosis Type 4 ALS4 Amyotrophic Lateral Sclerosis 4 Dhmn With Upper Motor Neuron Signs Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs Neuronopathy, Distal Hereditary Motor, With Pyramidal Features Als 4 Distal Hereditary Motor Neuropathy With Pyramidal Features Amyotrophic Lateral Sclerosis Juvenile 4 Neuronopathy Distal Hereditary Motor With Pyramidal Features Sclerosis, Lateral, Amyotrophic, Type Type 4
Scapuloperoneal Spinal Muscular Atrophy	SPSMA Amyotrophy, Neurogenic Scapuloperoneal, New England Type Neurogenic Scapuloperoneal Amyotrophy, New England Type Scapuloperoneal Neuronopathy Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy Neurogenic Scapuloperoneal New England Type Muscular Atrophy, Spinal Scapuloperoneal Form Of Spinal Muscular Atrophy
Diaphragmatic Eventration
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, 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
Neonatal Myasthenia Gravis	Myasthenia Gravis, Neonatal
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Myopathy, Myofibrillar, 6	Myofibrillar Myopathy 6 MFM6 Myopathy, Myofibrillar, Bag3-Related Bag3-Related Myofibrillar Myopathy Muscular Dystrophy, Selcen Type Mfm Bag3-Related Muscular Dystrophy Selcen Type Myopathy Myofibrillar Bag3-Related
Charcot-Marie-Tooth Disease, Axonal, Type 2b2	Charcot-Marie-Tooth Disease Type 2b2 CMT2B2 Arcmt2b Charcot-Marie-Tooth Disease, Type 2b2 Ar-Cmt2b2 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 Autosomal Recessive Axonal Cmt4c3 Charcot-Marie-Tooth Disease Neuronal Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 Charcot-Marie-Tooth Neuropathy, Type 2b2 Charcot-Marie-Tooth Disease 2b2 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 Charcot-Marie-Tooth Disease Axonal Type 2b2
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Lethal Restrictive Dermopathy	Hyperkeratosis-Contracture Syndrome Tight Skin Contracture Syndrome Tight Skin Contracture Syndrome, Lethal Dermopathy, Restrictive, Lethal
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Distal Hereditary Motor Neuronopathy Type 7	Dhmn7 Dhmnvpy Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	HSAN1A Hsan Ia Hsan1 Hsn Ia Hereditary Sensory And Autonomic Neuropathy Type 1a Neuropathy, Hereditary Sensory And Autonomic, Type 1a Neuropathy, Hereditary Sensory, Type Ia Hsn1a Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a Hereditary Sensory And Autonomic Neuropathy Type Ia Neuropathy, Hereditary Sensory And Autonomic, 1a Hereditary Sensory Neuropathy Type Ia Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a Hsn1 Neuropathy, Sensory And Autonomic, Hereditary, Type 1a Hereditary Sensory Autonomic Neuropathy, Type 1
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	EMARDD Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Charcot-Marie-Tooth Disease, Axonal, Type 2b1	Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease, Type 2b1 CMT2B1 Autosomal Recessive Axonal Cmt4c1 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease Neuronal Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 Charcot-Marie-Tooth Neuropathy, Type 2b1 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 Ar-Cmt2b1 Charcot-Marie-Tooth Disease 2b1 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 Charcot-Marie-Tooth Disease Axonal Type 2b1
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
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Aoa2 Ataxia With Oculomotor Apraxia Type 2 Scar1 SCAN2 Ataxia-Oculomotor Apraxia 2 Ataxia-Ocular Apraxia 2 Ataxia-Oculomotor Apraxia Type 2 Scan 2 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly Scar1, Formerly Autosomal Recessive Spinocerebellar Ataxia-1 Spinocerebellar Ataxia, Autosomal Recessive, 1 Ataxia-Ocular Apraxia-2 Spinocerebellar Ataxia, Autosomal Recessive 1
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]
Brown-Vialetto-Van Laere Syndrome
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
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
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
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06638	IGHMBP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	IGHMBP2	VGNC	VGNC:41910
Bos taurus	IGHMBP2	VGNC	VGNC:30092
Macaca mulatta	IGHMBP2	VGNC	VGNC:82163
Rattus norvegicus	IGHMBP2	RGD	RGD:68325
Felis catus	IGHMBP2	VGNC	VGNC:67720
Mus musculus	IGHMBP2	MGD	MGI:99954
Others	IGHMBP2	NCBI