1. Gene
  2. SBF2 - SET binding factor 2 Gene

SBF2 - SET binding factor 2 Gene

Homo sapiens

Also known as CMT4B2; MTMR13; DENND7B

Gene ID: 81846 | Gene type: protein coding

About SBF2

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:9,778,668-10,294,219 (from NCBI)

This gene has 47 transcripts (splice variants), 241 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 7.7), fat (RPKM 7.5) and 25 other tissues.

Summary

This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]

SBF2 Products(3)

mRNA Protein Name
NM_001386339.1 NP_001373268.1 myotubularin-related protein 13 isoform 1
NM_001386342.1 NP_001373271.1 myotubularin-related protein 13 isoform 3
NM_030962.4 NP_112224.1 myotubularin-related protein 13 isoform 2

SBF2 Protein Structure

uDENN

uDENN: uDENN domain (25 - 86)

DENN

DENN: DENN (AEX-3) domain (117 - 297)

dDENN

dDENN: dDENN domain (351 - 420)

SBF2

SBF2: Myotubularin protein (528 - 754)

GRAM

GRAM: GRAM domain (872 - 957)

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (1101 - 1522)

PH

PH: PH domain (1747 - 1847)

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  • 1849 a.a.
Protein Preferred Names Protein Names

myotubularin-related protein 13

DENN/MADD domain containing 7B

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2

CMT4B2

Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

Cmt 4b2

Charcot Marie Tooth Disease Type 4b2

Charcot-Marie-Tooth Disease 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

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

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1

CMT4B1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

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

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

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 Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e

CMT1E

Charcot-Marie-Tooth Disease Type 1

Hereditary Motor And Sensory Neuropathy Type 1

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

Charcot-Marie-Tooth Disease, Type I

Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

Charcot-Marie-Tooth Disease, Type 1e

Charcot-Marie-Tooth Disease Demyelinating Type 1e

Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

Cmt1

Charcot-Marie-Tooth Neuropathy Type 1

Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

Charcot-Marie-Tooth Disease-Deafness

Charcot-Marie-Tooth Type 1

Hmsn1

Hereditary Motor And Sensory Neuropathy 1

Cmt 1e

Charcot Marie Tooth Disease Type 1e

Charcot-Marie-Tooth Disease-Deafness Syndrome

Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

Charcot-Marie-Tooth Disease 1e

Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

Charcot-Marie-Tooth Neuropathy Type 1e

Charcot-Marie-Tooth Disease, Type Ie

Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease, Type 4c

Charcot-Marie-Tooth Disease Type 4c

CMT4C

Charcot-Marie-Tooth Neuropathy Type 4c

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c

Charcot-Marie-Tooth Neuropathy, Type 4c

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c

Charcot-Marie-Tooth Disease 4c

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease Type 4f

CMT4F

Charcot-Marie-Tooth Disease, Type 4f

Charcot-Marie-Tooth Disease 4f

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Dejerine-Sottas Disease

Charcot-Marie-Tooth Disease, Type 4h

Charcot-Marie-Tooth Disease Type 4h

CMT4H

Charcot-Marie-Tooth Neuropathy Type 4h

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Neuropathy, Type 4h

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

Charcot-Marie-Tooth Disease 4h

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy

Xlmtm

X-Linked Centronuclear Myopathy

Xlcnm

CNMX

Mtm1

Myotubular Myopathy, X-Linked

Mtmx

Myotubular Myopathy 1

Centronuclear Myopathy X-Linked

Myotubular Myopathy

Mtm

Cnm

Xmtm

Myotubular Myopathy Type 1

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j

CMT4J

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

Charcot-Marie-Tooth Disease 4j

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB

Charcot-Marie-Tooth Disease Dominant Intermediate B

Di-Cmtb

Cmtdi1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

CMT2M

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

Charcot-Marie-Tooth Disease, Axonal Type 2m

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Disease 2m

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

Charcot-Marie-Tooth Disease Axonal Type 2m

Charcot-Marie-Tooth Neuropathy Axonal Type 2m

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

Charcot-Marie-Tooth Disease, Axonal, Type 2m

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Charcot-Marie-Tooth Disease, Type 4a

Charcot-Marie-Tooth Disease Type 4a

CMT4A

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a

Charcot-Marie-Tooth Neuropathy, Type 4a

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a

Charcot-Marie-Tooth Neuropathy Type 4a

Charcot-Marie-Tooth Disease 4a

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a

Charcot-Marie-Tooth Disease Neuropathy Type 4a

Charcot-Marie-Tooth Disease, Type 4d

Charcot-Marie-Tooth Disease Type 4d

CMT4D

Hmsnl

Hmsn4d

Charcot-Marie-Tooth Neuropathy Type 4d

Hereditary Motor And Sensory Neuropathy Lom Type

Hmsn-Lom

Neuropathy, Hereditary Motor And Sensory, Lom Type

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

Charcot-Marie-Tooth Neuropathy, Type 4d

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

Hmsn Lom Type

Hmsn, Lom Type

Hereditary Motor And Sensory Neuropathy, Lom Type

Charcot-Marie-Tooth Disease 4d

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

Hereditary Motor And Sensory Neuropathy Ivd

Hmsn Ivd

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Charcot-Marie-Tooth Disease Type 1c

CMT1C

Hmsn1c

Hmsn Ic

Charcot-Marie-Tooth Disease, Type 1c

Charcot-Marie-Tooth Neuropathy Type 1c

Cmt, Slow Nerve Conduction Type C

Charcot-Marie-Tooth Neuropathy, Type 1c

Neuropathy, Hereditary Motor And Sensory, Type Ic

Cmt Slow Nerve Conduction Type C

Neuropathy Hereditary Motor And Sensory Type 1c

Charcot-Marie-Tooth Disease 1c

Charcot-Marie-Tooth Disease Demyelinating Type 1c

Hereditary Motor And Sensory Neuropathy Ic

Charcot-Marie-Tooth Disease, Type Ic

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Charcot-Marie-Tooth Disease, Axonal, Type 2j

CMT2J

Charcot-Marie-Tooth Disease, Type 2j

Charcot-Marie-Tooth Disease Type 2j

Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities

Charcot-Marie-Tooth Neuropathy Type 2j

Charcot-Marie-Tooth Neuropathy, Type 2j

Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j

Charcot-Marie-Tooth Disease 2j

Charcot-Marie-Tooth Disease Axonal Type 2j

Charcot-Marie-Tooth Disease Neuronal Type 2j

Neuropathy, Hereditary Sensory, Type Ie

HSN1E

Hsn Ie

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsan 1

Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

Hereditary Sensory Neuropathy Type 1

Hsn1

Hereditary Sensory And Autonomic Neuropathy Type 1

Neuropathy Hereditary Sensory And Autonomic Type 1

Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

Neuropathy, Hereditary Sensory, 1e

Neuropathy Hereditary Sensory With Hearing Loss And Dementia

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Charcot-Marie-Tooth Disease Type 1b

CMT1B

Hereditary Motor And Sensory Neuropathy Ib

Hmsn Ib

Hmsn1b

Peroneal Muscular Atrophy

Charcot-Marie-Tooth Disease, Type 1b

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy

Charcot-Marie-Tooth Neuropathy Type 1b

Charcot-Marie-Tooth Disease, Type Ib

Hereditary Motor And Sensory Neuropathy I

Hmsn I

Hmsn1

Charcot-Marie-Tooth Neuropathy, Type 1b

Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy

Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b

Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b

Charcot-Marie-Tooth Disease 1b

Charcot-Marie-Tooth Disease Demyelinating Type 1b

Hmsn Type I

Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE

Charcot-Marie-Tooth Disease Dominant Intermediate E

Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Charcot-Marie-Tooth Disease-Nephropathy Syndrome

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

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

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy

Hereditary Neuropathy With Liability To Pressure Palsies

HNPP

Polyneuropathy, Familial Recurrent

Neuropathy, Recurrent, With Pressure Palsies

Current Pressure-Sensitive Neuropathy

Familial Recurrent Polyneuropathy

Heterozygous Microdeletion 17p11.2p12

Potato-Grubbing Palsy

Tulip-Bulb Digger'S Palsy

Compression Neuropathy

Entrapment Neuropathy

Familial Pressure Sensitive Neuropathy

Hereditary Motor And Sensory Neuropathy

Hereditary Pressure Sensitive Neuropathy

Inherited Tendency To Pressure Palsies

Hereditary Liability To Pressure Palsies

Nerve Compression Syndrome

Entrapment Neuropathies

Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b

CMT2B

Hmsn Iib

Hmsn2b

Charcot-Marie-Tooth Disease, Type 2b

Hereditary Motor And Sensory Neuropathy Iib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

Charcot-Marie-Tooth Neuropathy Type 2b

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

Charcot-Marie-Tooth Neuropathy, Type 2b

Hereditary Motor And Sensory Nueropathy Iib

Cmt 2b

Charcot Marie Tooth Disease Type 2b

Charcot-Marie-Tooth Disease, Neuronal, Type 2b

Hereditary Motor And Sensory Neuropathy 2 B

Peripheral Sensory Neuropathy, Autosomal Dominant

Charcot-Marie-Tooth Disease 2b

Charcot-Marie-Tooth Disease Axonal Type 2b

Charcot-Marie-Tooth Disease Neuronal Type 2b

Peripheral Sensory Neuropathy Autosomal Dominant

Psn

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

Charcot-Marie-Tooth Disease Intermediate Type

Intermediate Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease Dominant Intermediate

Charcot-Marie-Tooth Disease Recessive Intermediate

Intermediate Cmt

Intermediate Hereditary Motor And Sensory Neuropathy

Charcot-Marie-Tooth Disease, Intermediate Type

Charcot-Marie-Tooth, Intermediate

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Charcot-Marie-Tooth Disease Type 1a

CMT1A

Charcot-Marie-Tooth Disease, Type Ia

Hmsn1a

Hereditary Motor And Sensory Neuropathy Ia

Hmsn Ia

Charcot-Marie-Tooth Neuropathy, Type 1a

Charcot-Marie-Tooth Disease, Type 1a

Charcot-Marie-Tooth Neuropathy Type 1a

Hereditary Motor And Sensory Neuropathy 1a

Microduplication 17p12

Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

Cmt 1a

Charcot Marie Tooth Disease Type 1a

Hmsn 1a

Charcot-Marie-Tooth Disease 1a

Charcot-Marie-Tooth Disease Demyelinating Type 1a

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Charcot-Marie-Tooth Disease Type 1d

CMT1D

Hmsn Id

Hmsn1d

Charcot-Marie-Tooth Disease, Type 1d

Hereditary Motor And Sensory Neuropathy 1d

Charcot-Marie-Tooth Neuropathy Type 1d

Charcot-Marie-Tooth Neuropathy, Type 1d

Charcot-Marie-Tooth Disease 1d

Charcot-Marie-Tooth Disease Demyelinating Type 1d

Hereditary Motor And Sensory Neuropathy Id

Charcot-Marie-Tooth Disease, Type Id

Neuropathy, Hereditary Motor And Sensory, Russe Type

Charcot-Marie-Tooth Disease Type 4g

HMSNR

Cmt4g

Hereditary Motor And Sensory Neuropathy, Russe Type

Charcot-Marie-Tooth Disease, Type 4g

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g

Charcot-Marie-Tooth Neuropathy Type 4g

Charcot-Marie-Tooth Neuropathy, Type 4g

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g

Hereditary Motor And Sensory Neuropathy Russe Type

Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g

Hereditary Motor And Sensory Neuropathy, Type Iic

CMT2C

Charcot-Marie-Tooth Disease Axonal Type 2c

HMSN2C

Hmsn Iic

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

Charcot-Marie-Tooth Neuropathy Type 2c

Hereditary Motor And Sensory Neuropathy Type Iic

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c

Charcot-Marie-Tooth Neuropathy, Type 2c

Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c

Charcot-Marie-Tooth Disease 2c

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c

Charcot-Marie-Tooth Disease, Type 2c

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Charcot-Marie-Tooth Disease Type 1f

CMT1F

Charcot-Marie-Tooth Disease, Type 1f

Charcot-Marie-Tooth Neuropathy Type 1f

Charcot-Marie-Tooth Neuropathy, Type 1f

Charcot-Marie-Tooth Disease Type 2b5

Ar-Cmt2b5

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5

Seoan Due To Nefl Deficiency

Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency

Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency

Charcot-Marie-Tooth Disease 1f

Charcot-Marie-Tooth Disease Demyelinating Type 1f

Charcot-Marie-Tooth Disease, Type If

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

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck

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

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1

Cmtx

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

Cmt1x

X-Linked Charcot-Marie-Tooth Disease Type 1

X-Linked Hereditary Motor And Sensory Neuropathy

Hereditary Motor And Sensory Neuropathy, X-Linked

Hmsn, X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Cmt2, Formerly

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Hereditary Motor And Sensory Neuropathy X-Linked

Hmsn X-Linked

Charcot-Marie-Tooth, X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta SBF2 VGNC VGNC:77075
Bos taurus SBF2 VGNC VGNC:34306
Canis familiaris SBF2 VGNC VGNC:45882
Felis catus SBF2 VGNC VGNC:64887
Mus musculus SBF2 MGD MGI:1921831
Rattus norvegicus SBF2 RGD RGD:1588657