ALS2 - alsin Rho guanine nucleotide exchange factor ALS2 Gene

Also Known as ALSJ; PLSJ; IAHSP; ALS2CR6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57679

About ALS2

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:201,700,267-201,780,933 (from NCBI)

This gene has 75 transcripts (splice variants), 278 orthologues, 9 paralogues and is associated with 7 phenotypes. Ubiquitous expression in heart (RPKM 4.3), brain (RPKM 3.7) and 25 other tissues.

Summary

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

ALS2 Products (3)

mRNA Protein Name
NM_001135745.2 NP_001129217.1 alsin isoform 2
NM_001410975.1 NP_001397904.1 alsin isoform 3
NM_020919.4 NP_065970.2 alsin isoform 1
Molecular Function GO Annotation Evidence References Source
enables GTPase activator activity IDA
IDA: Inferred from direct assay
12837691 GOA
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
15247254 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
12837691 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
15247254 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21300063 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
15247254 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: Inferred from direct assay
16049005 GOA
enables small GTPase binding IDA
IDA: Inferred from direct assay
12837691 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within lysosomal transport IDA
IDA: Inferred from direct assay
12837691 GOA
involved in neuron projection morphogenesis IDA
IDA: Inferred from direct assay
16049005 GOA
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
16049005 GOA
involved in positive regulation of protein kinase activity IDA
IDA: Inferred from direct assay
16049005 GOA
acts upstream of or within protein homooligomerization IDA
IDA: Inferred from direct assay
15247254 GOA
involved in regulation of endosome size IEP
IEP: Inferred from expression pattern
15247254 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
16085057 GOA
located in cytosol IDA
IDA: Inferred from direct assay
12837691 GOA
located in dendrite IDA
IDA: Inferred from direct assay
15371724 GOA
located in early endosome IDA
IDA: Inferred from direct assay
12837691 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12837691 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
15247254 GOA
located in vesicle IDA
IDA: Inferred from direct assay
12837691 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

ALS2 Protein Structure

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (109 - 165)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (171 - 216)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (527 - 574)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (579 - 625)

RhoGEF

RhoGEF: RhoGEF domain (695 - 878)

MORN

MORN: MORN repeat (1049 - 1070)

MORN

MORN: MORN repeat (1072 - 1091)

MORN

MORN: MORN repeat (1100 - 1120)

MORN

MORN: MORN repeat (1123 - 1139)

MORN

MORN: MORN repeat (1151 - 1166)

MORN

MORN: MORN repeat (1175 - 1189)

MORN

MORN: MORN repeat (1198 - 1217)

MORN

MORN: MORN repeat (1221 - 1243)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (1553 - 1653)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1657 a.a.
Protein Preferred Names Protein Names

alsin

  • ALS2, alsin Rho guanine nucleotide exchange factor

ALS2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ALS2 Q96Q42 NEK1 Homo sapiens Q96PY6 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

ALS2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89976 Alsin Antibody (YA9320) WB, IP, ELISA human

Related Diseases

Diseases Alias
Spastic Paralysis, Infantile-Onset Ascending
  • IAHSP

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

  • Spastic Paralysis, Infantile Onset Ascending

  • Infantile Onset Ascending Spastic Paralysis

  • Infantile-Onset Ascending Hereditary Spastic Paraplegia

  • Infantile-Onset Ascending Spastic Paralysis

  • Paralysis, Spastic, Hereditary, Ascending, Infantile-Onset

  • Hereditary Spastic Paralysis, Infantile Onset Ascending

Primary Lateral Sclerosis, Juvenile
  • Juvenile Primary Lateral Sclerosis

  • JPLS

  • PLSJ

  • Juvenile Pls

  • Pls, Juvenile

  • Pls Juvenile

  • Sclerosis, Lateral, Juvenile Primary

  • Primary Lateral Sclerosis Juvenile

Amyotrophic Lateral Sclerosis 2, Juvenile
  • ALS2

  • Als, Juvenile

  • Alsj

  • Amyotrophic Lateral Sclerosis Type 2

  • Amyotrophic Lateral Sclerosis 2

  • Amyotrophic Lateral Sclerosis Type 2, Juvenile

  • Amyotrophic Lateral Sclerosis Juvenile

  • Amyotrophic Lateral Sclerosis Juvenile 2

  • Sclerosis, Lateral, Amyotrophic, Type Type 2

Juvenile Amyotrophic Lateral Sclerosis
  • Jals

  • Juvenile Charcot Disease

  • Juvenile Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis, Juvenile

Als2-Related Disorder
  • Als2-Related Disorders

Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Tyrosinemia
  • Hypertyrosinemia

  • Tyrosinemias

  • Hereditary Tyrosinemia

  • Hypertyrosinaemia

  • Tyrosinaemia

  • Hereditary Hypertyrosinemia

Axonal Neuropathy
Spasticity
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

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

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis Type 10

  • ALS10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

  • Frontotemporal Lobar Degeneration, Tardbp-Related

  • Amyotrophic Lateral Sclerosis 10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

  • Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

  • Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

  • Sclerosis, Lateral, Amyotrophic, Type Type 10

Amyotrophic Lateral Sclerosis 11
  • Amyotrophic Lateral Sclerosis Type 11

  • ALS11

  • Sclerosis, Lateral, Amyotrophic, Type Type 11

Amyotrophic Lateral Sclerosis Type 6
  • Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

  • Als6

  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

  • Autosomal Recessive Amyotrophic Lateral Sclerosis 6

  • Sclerosis, Lateral, Amyotrophic, Type Type 6

  • Amyotrophic Lateral Sclerosis 6

Amyotrophic Lateral Sclerosis 16, Juvenile
  • Amyotrophic Lateral Sclerosis Type 16

  • ALS16

  • Amyotrophic Lateral Sclerosis 16

  • Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Amyotrophic Lateral Sclerosis 8
  • Amyotrophic Lateral Sclerosis Type 8

  • ALS8

  • Sclerosis, Lateral, Amyotrophic, Type Type 8

Amyotrophic Lateral Sclerosis Type 14
  • Als14

  • Amyotrophic Lateral Sclerosis 14

  • Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 15
  • Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia

  • Als15

  • Amyotrophic Lateral Sclerosis 15

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
  • DSMA4

  • Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset

  • Distal Spinal Muscular Atrophy Type 4

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 4

  • Distal Spinal Muscular Atrophy, Autosomal Recessive, 4

  • Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Amyotrophic Lateral Sclerosis Type 12
  • Amyotrophic Lateral Sclerosis 12

  • Als12

  • Sclerosis, Lateral, Amyotrophic, Type Type 12

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

Amyotrophic Lateral Sclerosis 20
  • Amyotrophic Lateral Sclerosis Type 20

  • ALS20

  • Sclerosis, Lateral, Amyotrophic, Type 20

Amyotrophic Lateral Sclerosis 18
  • Amyotrophic Lateral Sclerosis Type 18

  • ALS18

  • Sclerosis, Lateral, Amyotrophic, Type 18

Amyotrophic Lateral Sclerosis Type 5
  • Amyotrophic Lateral Sclerosis 5

  • Als5

Spinocerebellar Ataxia 2
  • Spinocerebellar Ataxia Type 2

  • SCA2

  • Amyotrophic Lateral Sclerosis 13

  • Spinocerebellar Degeneration With Slow Eye Movements

  • SDSEM

  • Spinocerebellar Atrophy Ii

  • Olivopontocerebellar Atrophy Ii

  • Opca2

  • Cerebellar Degeneration With Slow Eye Movements

  • Wadia-Swami Syndrome

  • Amyotrophic Lateral Sclerosis Type 13

  • ALS13

  • Olivopontocerebellar Atrophy Holguin Type

  • Spinocerebellar Ataxia Cuban Type

  • Olivopontocerebellar Atrophy, Holguin Type

  • Spinocerebellar Ataxia, Cuban Type

  • Amyotrophic Lateral Sclerosis, Susceptibility To, 13

  • Olivopontocerebellar Atrophy 2

  • Sca 2

  • Spinocerebellar Ataxia With Slow Eye Movements

  • Spinocerebellar Atrophy 2

  • Wadia Swami Syndrome

  • Opca Ii

  • Spinocerebellar Ataxia-2

  • Ataxia, Spinocerebellar, Type 2

Amyotrophic Lateral Sclerosis 21
  • Amyotrophic Lateral Sclerosis Type 21

  • ALS21

  • Multisystem Proteinopathy 5

  • Msp5

  • Distal Myopathy With Vocal Cord Weakness

  • Vcpdm

  • Myopathy, Distal, 2, Formerly

  • Mpd2, Formerly

  • Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly

  • Vcpdm, Formerly

  • Vocal Cord And Pharyngeal Distal Myopathy

  • Matr3-Related Distal Myopathy

  • Distal Myopathy 2

  • Mpd2

  • Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy

  • Sclerosis, Lateral, Amyotrophic, Type 21

  • Myopathy, Distal 2

Locked-In Syndrome
  • Locked In Syndrome

  • Cerebromedullospinal Disconnection

  • Locked-In State

  • Quadriplegia

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

Amyotrophic Lateral Sclerosis 7
  • ALS7

  • Amyotrophic Lateral Sclerosis Type 7

Pontocerebellar Hypoplasia, Type 2e
  • Pontocerebellar Hypoplasia Type 2

  • Pontocerebellar Hypoplasia Type 2e

  • Pch2

  • PCH2E

  • Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

  • Pontocerebellar Hypoplasia 2e

  • Pcca2

  • Progressive Cerebello-Cerebral Atrophy Type 2

  • Doid:0112328

  • Hypoplasia, Pontocerebellar, Type 2e

  • Pontocerebellar Hypoplasia, Type 2d

  • Pontocerebellar Hypoplasia Type 2a

Distal Hereditary Motor Neuronopathy Type 7
  • Dhmn7

  • Dhmnvpy

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Neuronopathy, Distal Hereditary Motor, Type Viib
  • HMN7B

  • Hmn Viib

  • Dhmn7b

  • Neuropathy, Distal Hereditary Motor, Type Viib

  • Distal Hereditary Motor Neuronopathy Type 7b

  • Distal Hereditary Motor Neuropathy Type Viib

  • Neuronopathy, Distal Hereditary Motor, Type 7b

  • Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib

  • Lower Motor Neuron Disease, Dynactin Type

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b

  • Harper-Young Myopathy

  • Neuronopathy, Distal Hereditary Motor, 7b

  • Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib

  • Lower Motor Neuron Disease Dynactin Type

  • Plmnd

  • Progressive Lower Motor Neuron Disease

  • Neuropathy, Motor, Distal, Hereditary, Type Viib

Amyotrophic Lateral Sclerosis 19
  • Amyotrophic Lateral Sclerosis Type 19

  • ALS19

  • Sclerosis, Lateral, Amyotrophic, Type 19

Spastic Paraplegia 39, Autosomal Recessive
  • SPG39

  • Ntemnd

  • Hereditary Spastic Paraplegia 39

  • Nte-Related Motor Neuron Disorder

  • Autosomal Recessive Spastic Paraplegia Type 39

  • Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

  • Spastic Paraplegia Due To Nte Mutation

  • Spastic Paraplegia 39

  • Autosomal Recessive Spastic Paraplegia 39

  • Nte Related Motor Neuron Disorder

  • Paraplegia, Spastic, Type 39

Neuronopathy, Distal Hereditary Motor, Type Iia
  • HMN2A

  • Hmn Iia

  • Neuropathy, Distal Hereditary Motor, Type Iia

  • Dhmn2a

  • Distal Hereditary Motor Neuronopathy Type 2a

  • Distal Hereditary Motor Neuropathy Type Iia

  • Neuronopathy, Distal Hereditary Motor, Type 2a

  • Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia

  • Charcot-Marie-Tooth Disease, Spinal, Iia

  • Autosomal Dominant Adult Spinal Muscular Atrophy Iia

  • Spinal Charcot-Marie-Tooth Disease Iia

  • Neuronopathy, Distal Hereditary Motor, 2a

  • Charcot-Marie-Tooth Disease Spinal Iia

  • Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia

  • Neuropathy, Motor, Distal, Hereditary, Type 2a

Progressive Bulbar Palsy
  • Bulbar Palsy, Progressive

  • Progressive Bulbar Atrophy

  • Bulbar Palsy

  • Pbp - [Progressive Bulbar Palsy]

  • Progressive Bulbar Paralysis

  • Bulbar Paralysis

  • Chronic Bulbar Palsy

  • Chronic Bulbar Paralysis

  • Supranuclear Bulbar Paralysis

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

Spondylometaphyseal Dysplasia, Axial
  • Axial Spondylometaphyseal Dysplasia

  • SMDAX

  • Axial Smd

  • Smd Axial

  • Smd, Axial

  • Spondylometaphyseal Dysplasia Axial Type

  • Dysplasia, Spondylometaphyseal, Axial

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Warburg Micro Syndrome 1
  • Warburg Micro Syndrome

  • Micro Syndrome

  • Warbm

  • WARBM1

  • Warburg Sjo Fledelius Syndrome

  • Warburg-Sjo-Fledelius Syndrome

  • Micro Syndrome 1

  • Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

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]

Spastic Paraplegia 10, Autosomal Dominant
  • SPG10

  • Hereditary Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia Type 10

  • Spastic Paraplegia 10

  • Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

  • Autosomal Dominant Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia

  • Spastic Paraplegia, Autosomal Dominant

  • Paraplegia, Spastic, Autosomal Dominant, Type 10

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

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

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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

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
Rattus norvegicus ALS2 RGD RGD:1310372
Bos taurus ALS2 VGNC VGNC:25851
Mus musculus ALS2 MGD MGI:1921268
Canis familiaris ALS2 VGNC VGNC:37819
Felis catus ALS2 VGNC VGNC:67397
Macaca mulatta ALS2 VGNC VGNC:84207
Others ALS2 NCBI