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Aliases for ALS2 Gene

Aliases for ALS2 Gene

  • ALS2, Alsin Rho Guanine Nucleotide Exchange Factor 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 6 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) 2 3
  • Amyotrophic Lateral Sclerosis 2 Protein 3 4
  • ALS2CR6 3 4
  • Alsin 2 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 6 2
  • KIAA1563 4
  • IAHSP 3
  • ALSJ 3
  • PLSJ 3

External Ids for ALS2 Gene

Previous HGNC Symbols for ALS2 Gene

  • ALS2CR6

Previous GeneCards Identifiers for ALS2 Gene

  • GC02M200782
  • GC02M201289
  • GC02M202529
  • GC02M202767
  • GC02M202390
  • GC02M202273
  • GC02M194413
  • GC02M202564

Summaries for ALS2 Gene

Entrez Gene Summary for ALS2 Gene

  • 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]

GeneCards Summary for ALS2 Gene

ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with ALS2 include Spastic Paralysis, Infantile Onset Ascending and Primary Lateral Sclerosis, Juvenile. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include protein homodimerization activity and Rab GTPase binding. An important paralog of this gene is ALS2CL.

UniProtKB/Swiss-Prot for ALS2 Gene

  • May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).

Gene Wiki entry for ALS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALS2 Gene

Genomics for ALS2 Gene

Regulatory Elements for ALS2 Gene

Enhancers for ALS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G201778 1.1 ENCODE 18.1 +0.9 875 3.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF207 FOS ALS2 GC02M201778 RPS2P16
GH02G201787 1.1 Ensembl ENCODE 15.2 -6.5 -6525 0.6 HDAC1 TBL1XR1 CHAMP1 TCF12 ZNF121 ZNF766 GATA2 ZBTB2 CEBPB NCOA1 ALS2 CDK15
GH02G201695 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +83.4 83380 5.4 ZNF263 FOXA2 JUN HLF SIN3A CEBPB CEBPG NR2F2 JUND GATA3 ALS2 RNU6-651P TMEM237 MPP4
GH02G201796 1.1 Ensembl ENCODE 11.1 -16.8 -16801 3.6 CTCF JUN SIN3A MAX ZNF384 ZNF2 RAD21 FOSL1 ZNF316 GATA3 ALS2 LOC729224 RNU6-440P CDK15 GC02P201809
GH02G201805 1 Ensembl ENCODE 10.7 -26.0 -25956 2.4 PKNOX1 FEZF1 ZIC2 ZNF2 FOSL1 CTBP1 POLR2A ZNF600 PRDM10 MAFK ALS2 FZD7 RNU6-440P LOC729224 NOP58 ENSG00000212309 SNORD70 GC02P201809 CDK15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALS2 on UCSC Golden Path with GeneCards custom track

Promoters for ALS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000128847 189 2400 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 SLC30A9 ZNF207 FOS ZNF263

Genomic Location for ALS2 Gene

Chromosome:
2
Start:
201,700,263 bp from pter
End:
201,781,189 bp from pter
Size:
80,927 bases
Orientation:
Minus strand

Genomic View for ALS2 Gene

Genes around ALS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALS2 Gene

Proteins for ALS2 Gene

  • Protein details for ALS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q42-ALS2_HUMAN
    Recommended name:
    Alsin
    Protein Accession:
    Q96Q42
    Secondary Accessions:
    • Q53TT1
    • Q53TV2
    • Q8N1E0
    • Q96PC4
    • Q96Q41
    • Q9H973
    • Q9HCK9

    Protein attributes for ALS2 Gene

    Size:
    1657 amino acids
    Molecular mass:
    183634 Da
    Quaternary structure:
    • Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.
    SequenceCaution:
    • Sequence=BAB13389.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALS2 Gene

Post-translational modifications for ALS2 Gene

  • Ubiquitination at Lys849
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALS2 Gene

Domains & Families for ALS2 Gene

Protein Domains for ALS2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ALS2: view

No data available for UniProtKB/Swiss-Prot for ALS2 Gene

Function for ALS2 Gene

Molecular function for ALS2 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).

Gene Ontology (GO) - Molecular Function for ALS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IEA,IDA 15247254
GO:0005087 Ran guanyl-nucleotide exchange factor activity NAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 21300063
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with ALS2: view
genes like me logo Genes that share phenotypes with ALS2: view

Human Phenotype Ontology for ALS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALS2 Gene

MGI Knock Outs for ALS2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALS2

miRNA for ALS2 Gene

miRTarBase miRNAs that target ALS2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ALS2 Gene

Localization for ALS2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALS2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
nucleus 3
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ALS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IDA 12837691
GO:0005813 centrosome IDA 16085057
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ALS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ALS2 Gene

Pathways & Interactions for ALS2 Gene

genes like me logo Genes that share pathways with ALS2: view

Pathways by source for ALS2 Gene

1 KEGG pathway for ALS2 Gene

Gene Ontology (GO) - Biological Process for ALS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001881 receptor recycling IEA --
GO:0006979 response to oxidative stress IEA --
GO:0007032 endosome organization IGI,NAS 12837691
genes like me logo Genes that share ontologies with ALS2: view

No data available for SIGNOR curated interactions for ALS2 Gene

Drugs & Compounds for ALS2 Gene

(1) Drugs for ALS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ALS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ALS2: view

Transcripts for ALS2 Gene

Unigene Clusters for ALS2 Gene

Amyotrophic lateral sclerosis 2 (juvenile):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALS2 Gene

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: - - -
SP6: - -
SP7: - - - - -

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:
SP6:
SP7:

Relevant External Links for ALS2 Gene

GeneLoc Exon Structure for
ALS2
ECgene alternative splicing isoforms for
ALS2

Expression for ALS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALS2 Gene

mRNA differential expression in normal tissues according to GTEx for ALS2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.7) and Brain - Cerebellum (x7.8).

Protein differential expression in normal tissues from HIPED for ALS2 Gene

This gene is overexpressed in Frontal cortex (26.5) and Retina (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALS2 Gene



Protein tissue co-expression partners for ALS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALS2 Gene:

ALS2

SOURCE GeneReport for Unigene cluster for ALS2 Gene:

Hs.471096

Evidence on tissue expression from TISSUES for ALS2 Gene

  • Liver(4.3)
  • Nervous system(3.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • salivary gland
  • skull
  • tongue
  • tooth
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ALS2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ALS2 Gene

Orthologs for ALS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALS2 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia ALS2 34 35
  • 92.57 (n)
cow
(Bos Taurus)
Mammalia ALS2 34 35
  • 91.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALS2 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Als2 34
  • 87.36 (n)
mouse
(Mus musculus)
Mammalia Als2 34 16 35
  • 87.18 (n)
oppossum
(Monodelphis domestica)
Mammalia ALS2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALS2 34 35
  • 76.48 (n)
lizard
(Anolis carolinensis)
Reptilia ALS2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia als2 34
  • 68.71 (n)
zebrafish
(Danio rerio)
Actinopterygii als2b 34 35
  • 62.01 (n)
als2a 35
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7158 36 35
  • 27 (a)
Species where no ortholog for ALS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALS2 Gene

ENSEMBL:
Gene Tree for ALS2 (if available)
TreeFam:
Gene Tree for ALS2 (if available)

Paralogs for ALS2 Gene

Paralogs for ALS2 Gene

(5) SIMAP similar genes for ALS2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ALS2 Gene

genes like me logo Genes that share paralogs with ALS2: view

Variants for ALS2 Gene

Sequence variations from dbSNP and Humsavar for ALS2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121908137 Pathogenic 201,726,854(-) GGCTA(A/C/T)GAGCT nc-transcript-variant, reference, synonymous-codon, stop-gained
rs121908138 Pathogenic 201,761,524(-) GGCGT(A/G)TGGCG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121908139 Pathogenic 201,744,285(-) AATCT(C/T)AGATT nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs386134173 Pathogenic 201,767,266(-) CAGGC(-/A)GCCCT nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs386134174 Pathogenic 201,761,441(-) TTACC(-/A)CTGCC nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ALS2 Gene

Variant ID Type Subtype PubMed ID
esv1240932 CNV insertion 17803354
esv2664768 CNV deletion 23128226
esv3305718 CNV mobile element insertion 20981092
esv3309655 CNV mobile element insertion 20981092
esv3404179 CNV insertion 20981092
esv3428790 CNV insertion 20981092
esv3584275 CNV loss 25503493
esv3593983 CNV loss 21293372
nsv524548 CNV gain 19592680
nsv584163 CNV loss 21841781
nsv834511 CNV loss 17160897
nsv963760 CNV duplication 23825009

Variation tolerance for ALS2 Gene

Residual Variation Intolerance Score: 1.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.51; 64.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALS2 Gene

Human Gene Mutation Database (HGMD)
ALS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALS2 Gene

Disorders for ALS2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for ALS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paralysis, infantile onset ascending
  • spastic paralysis, infantile-onset ascending
primary lateral sclerosis, juvenile
  • juvenile primary lateral sclerosis
amyotrophic lateral sclerosis 2, juvenile
  • amyotrophic lateral sclerosis type 2
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
als2-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search ALS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALS2_HUMAN
  • Amyotrophic lateral sclerosis 2 (ALS2) [MIM:205100]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:11586298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]: Characterized by progressive spasticity and weakness of limbs. {ECO:0000269 PubMed:12145748}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Juvenile primary lateral sclerosis (JPLS) [MIM:606353]: A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. {ECO:0000269 PubMed:11586297}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALS2

Genetic Association Database (GAD)
ALS2
Human Genome Epidemiology (HuGE) Navigator
ALS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALS2
genes like me logo Genes that share disorders with ALS2: view

No data available for Genatlas for ALS2 Gene

Publications for ALS2 Gene

  1. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. (PMID: 12145748) Eymard-Pierre E. … Boespflug-Tanguy O. (Am. J. Hum. Genet. 2002) 3 4 22 46 64
  2. Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. (PMID: 12866199) Nagano I. … Abe K. (Neurol. Res. 2003) 3 22 46 64
  3. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. (PMID: 11586297) Yang Y. … Siddique T. (Nat. Genet. 2001) 3 4 22 64
  4. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 2 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for ALS2 Gene

Sources for ALS2 Gene

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