ALS2 Gene
protein-coding GIFtS: 60
GCID: GC02M202564
|
|
amyotrophic lateral sclerosis 2 (juvenile)(Previous names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...)
(Previous symbol: ALS2CR6)
| |
Aliases
for ALS2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Amyotrophic Lateral Sclerosis 2 (Juvenile)1 2 | | IAHSP2 5 | | ALS2CR61 2 3 | | PLSJ2 5 | | Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 6 Protein2 3 | | Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 61 | | Amyotrophic Lateral Sclerosis 2 Protein2 3 | | Alsin1 | | ALSJ2 5 | | KIAA15633 |
Export aliases for ALS2 gene to outside databasesPrevious GC identifers: GC02M200782 GC02M201289 GC02M202529 GC02M202767 GC02M202390 GC02M202273 GC02M194413 |
Summaries
for ALS2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ALS2:
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 ofGTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The proteinlocalizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations inthis 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)
UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42Function: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)
Gene Wiki entry for ALS2
|
Genomic Views
for ALS2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ALS2 gene promoter:
AhR Sp1 Pax-5 SREBP-1c SREBP-1b Arnt AREB6 HEN1 SREBP-1a COMP1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ALS2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q33.1 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33-q35ALS2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M202564: view genomic region
(about GC identifiers)
Start:
|
202,564,986 bp from pter |
End:
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202,645,912 bp from pter |
Size:
|
80,927 bases |
Orientation:
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minus strand |
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Proteins
for ALS2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42 (See
protein sequence)Recommended Name: Alsin Size: 1657 amino acids; 183634 Da
Subunit: Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL
Sequence caution: Sequence=BAB13389.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q53TT1 Q53TV2 Q8N1E0 Q96PC4 Q96Q41 Q9H973 Q9HCK9Alternative splicing: 3 isoforms: Q96Q42-1 Q96Q42-2 Q96Q42-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ALS2: NX_Q96Q42
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96Q42
ALS2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001129217.1 NP_065970.2
ENSEMBL proteins: ENSP00000264276 ENSP00000403832 ENSP00000429223 ENSP00000386384 ENSP00000386948 ENSP00000394823
Human Recombinant Protein Products:
Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19): About this table
ALS2 for ontologies About GeneDecksing
ALS2 Antibody Products:
Assay Products for ALS2: |
Protein
Domains /
Families
for ALS2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALS2 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q96Q42ProtoNet protein and cluster: Q96Q42 2 Blocks protein families: IPB000219 DH domain IPB001849 Pleckstrin-like
UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42Similarity: Contains 1 DH (DBL-homology) domainSimilarity: Contains 8 MORN repeatsSimilarity: Contains 1 PH domainSimilarity: Contains 5 RCC1 repeatsSimilarity: Contains 1 VPS9 domain |
Function
for ALS2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42Function: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ALS2 (NM_006498) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALS2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2 |
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table
ALS2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ALS2:
Animal Models:
Mouse knock-outs for ALS2: Als2tm1Garo Als2tm1Jei Als2tm1Deng
7 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Als2):
ALS2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ALS2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Pathogenesis of ALS | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for ALS2):
ALS2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALS2
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5/7 Interacting proteins for ALS2 (Q96Q422, 3 ENSP000002642764) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table
ALS2 for ontologies About GeneDecksing
|
Drugs & Compounds
for ALS2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ALS2 for compounds About GeneDecksing
 Browse Tocris compounds for ALS2
2 Novoseek chemical compound relationships for ALS2 gene About this table
Search CenterWatch for drugs/clinical trials and news about ALS2
|
Transcripts
for ALS2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ALS2 gene (2 alternative transcripts): NM_001135745.1 NM_020919.3 Unigene Cluster for ALS2: Amyotrophic lateral sclerosis 2 (juvenile) Hs.471096 [show with all ESTs]Unigene Representative Sequence: NM_02091913 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000264276(uc010ftl.3 uc002uyo.3) ENST00000439495 ENST00000489440
ENST00000482891(uc002uyp.4) ENST00000494017 ENST00000483703 ENST00000482789(uc002uyq.3)
ENST00000467448(uc002uyr.3) ENST00000496244 ENST00000409632 ENST00000410052
ENST00000462747 ENST00000457679
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ALS2 (NM_006498) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALS2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2 |
Additional cDNA sequence: AB046783.2 AB053305.1 AB053306.1 AF391100.1 AK023024.1 AK056413.1 AK291029.1 BC029174.1 BC071576.1 10 DOTS entries: DT.115018 DT.70104313 DT.97763446 DT.100781815 DT.91953092 DT.95166512 DT.100024081 DT.40111923 DT.97843582 DT.99931074 24/134 AceView cDNA sequences (see all 134): AK023024 BU184429 AA814077 AI572622 BP349944 AI287595 AA459575 N23178 AI273643 AK056413 AA252368 AA459354 N26018 BU623061 AI561364 AA804214 BU164048 BU681518 AA255499 AI686227 BQ021165 AF391100 AB053306 AI082719
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ALS2 (see all 7) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | - | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ALS2
|
Expression
for ALS2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ALS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ALS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALS2
SOURCE GeneReport for Unigene cluster: Hs.471096
SABiosciences Custom PCR Arrays for ALS2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALS2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALS2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2 |
Orthologs
for ALS2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ALS2 gene from 4/19 species (see all 19) About this table
ENSEMBL Gene Tree for ALS2 (if available)
TreeFam Gene Tree for ALS2 (if available) |
Paralogs
for ALS2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ALS2 gene
- JPH22 RSPH10B2 JPH42 MORN42 JPH12 ALS2CL2 JPH32 RSPH10B22
- MORN12 RSPH12 MORN32
5 SIMAP similar genes for ALS2 using alignment to 6 protein entries: ALS2_HUMAN (see all proteins):MORN4 LOC118812 MORN2 ALS2CL FLJ00189
ALS2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ALS2
PGOHUM00000234910
|
Genomic Variants
for ALS2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ALS2 (202564986 - 202645912 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ALS2: --
Human Gene Mutation Database (HGMD): ALS2
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for ALS2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ALS2 for disorders About GeneDecksing
OMIM gene information: 606352
OMIM disorders: 205100 606353 607225
UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42
Defects in ALS2 are the cause of amyotrophic lateral sclerosis type 2 (ALS2) [MIM:205100]. ALS2 is a familialform of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons andresulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiologyof amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. Thedisease is inherited in 5-10% of cases leading to familial forms Defects in ALS2 are the cause of juvenile primary lateral sclerosis (JPLS) [MIM:606353]. JPLS is aneurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. Itis a progressive paralytic disorder which results from dysfunction of the upper motor neurons of the motor cortexwhile the lower neurons are unaffected Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]. IAHSP ischaracterized by progressive spasticity and weakness of limbs
18  diseases for ALS2: About MalaCardslateral sclerosis amyotrophic lateral sclerosis spastic paralysis infantile-onset ascending hereditary spastic paralysis
paralysis spasticity spastic paraplegia amyotrophic lateral sclerosis type 2
amyotrophic lateral sclerosis (als) juvenile primary lateral sclerosis motor neuron disease paraplegia
neurodegenerative disease neurodegeneration dementia neuronitis
pneumonia malaria
3 diseases from the University of Copenhagen DISEASES database for ALS2:Lateral sclerosis Amyotrophic lateral sclerosis Paraplegia 10/11 Novoseek disease relationships for ALS2 gene (see all 11) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| iahsp |
98.7 |
12 |
18810511 (2), 16718699 (2), 18523452 (2), 16670179 (1) (see all 8) |
| spastic paralysis |
94.9 |
8 |
16718699 (2), 16670179 (1), 14668431 (1), 19304783 (1) (see all 7) |
| primary lateral sclerosis |
92.2 |
8 |
12601111 (1), 14668431 (1), 19122027 (1), 19304783 (1) (see all 7) |
| amyotrophic lateral sclerosis |
86.7 |
22 |
12866199 (2), 14676054 (2), 11586297 (1), 16670179 (1) (see all 17) |
| other motor neuron diseases |
84.4 |
2 |
15651293 (1) |
| motor neuron disease |
84.2 |
12 |
14668431 (2), 17409386 (2), 12837691 (2), 18810511 (1) (see all 6) |
| spastic paraplegia hereditary |
80 |
4 |
16670179 (1), 14676054 (1), 12837691 (1), 12919135 (1) |
| spastic paraplegia |
69.5 |
2 |
12145748 (1), 12919135 (1) |
| neurodegenerative diseases |
55.7 |
3 |
16473593 (1), 19304783 (1), 17981578 (1) |
| neurodegeneration |
49.3 |
6 |
16670179 (1), 14753659 (1), 15651293 (1), 17093100 (1) (see all 5) |
GeneTests: ALS2
ALS2-Related DisordersAmyotrophic Lateral Sclerosis
Genetic Association Database (GAD): ALS2
Human Genome Epidemiology (HuGE) Navigator: ALS2 (3 documents)
Export disorders for ALS2 gene to outside databases
|
Publications
for ALS2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ALS2 gene, integrated from 9 sources (see all 71):
(articles sorted by number of sources associating them with ALS2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2, 3 Hadano S....Ikeda J.-E. (2001)
- Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. (PubMed id 12866199)1, 4, 9 Nagano I....Abe K. (2003)
- The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. (PubMed id 11586297)1, 2, 9 Yang Y.... Siddique T. (2001)
- Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. (PubMed id 12145748)1, 2, 9 Eymard-Pierre E.... Boespflug-Tanguy O. (2002)
- ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics. (PubMed id 17239822)1, 2 Suzuki-Utsunomiya K.... Ikeda J.-E. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
- The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. (PubMed id 16670179)1, 9 Panzeri C....Bassi M.T. (2006)
|
External Searches for ALS2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ALS2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ALS2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing ALS2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for ALS2 | Pharmacogenomics, SNPs, Pathways | | Alsod | http://alsod.iop.kcl.ac.uk/Als/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALS2 |
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About This Section
| Patent Information for ALS2 gene:
Search GeneIP for patents involving ALS2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ALS2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for ALS2 | | OriGene shRNA RFP for ALS2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALS2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALS2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for ALS2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ALS2 | | OriGene Custom Protein Services for ALS2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALS2 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALS2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALS2 |
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| | | | Search Tocris compounds for ALS2 |
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 | | | ALS2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2 |
|  |  |  | | | | ThermoFisher Antibodies for ALS2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2 |
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