Property Summary

NCBI Gene PubMed Count 50
PubMed Score 151.55
PubTator Score 87.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -2.281 3.3e-07
glioblastoma -1.100 1.1e-03
medulloblastoma, large-cell -1.100 1.8e-02
intraductal papillary-mucinous neoplasm ... 1.400 1.5e-02
active Crohn's disease 1.041 4.3e-03
adult high grade glioma -1.100 2.3e-02
atypical teratoid/rhabdoid tumor 1.100 3.6e-04
subependymal giant cell astrocytoma -2.413 9.3e-03
Pick disease -1.100 7.6e-04
ovarian cancer -1.500 5.9e-11

Protein-protein Interaction (5)

Gene RIF (30)

PMID Text
25474699 We identified a novel homozygous splice-site mutation (c.3512+1G>A) in the ALS2 gene (NM_020919.3) encoding alsin that segregated with the disease in this family
25433428 novel compound heterozygous ALS2 deletion mutations were identified in two siblings with infantile ascending hereditary spastic paraplegia.
24704789 Data indicate a splice-site mutation of the amyotrophic lateral sclerosis 2 (juvenile) protein (ALS2) in four children of a consanguineous family with infantile-onset ascending hereditary spastic paraplegia.
24562058 The ALS2 gene should be screened for mutations in patients who present with generalized dystonia and cerebellar signs.
24315819 The ALS2 mutation c.2761C>T leading to infantile-onset hereditary spastic paraplegia resides in the pleckstrin domain, which is involved in the overall neuronal development or maintenance.
23282280 ALS2 sequencing revealed two heterozygous mutations: the missense variant c.299 G>T, leading to the replacement of a serine with an isoleucine (p.S100I), and the splicing variant c.2580-2 A>G in brothers with juvenile amyotrophic lateral sclerosis.
21907703 these results suggest that Als2 is a binding partner of Uxt and Als2/Uxt interaction could be important for the activation of Nf-kappaB pathway.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19122027 This novel ALS2 splice-site mutation is causing the loss of exon 18 in the transcript which results in a frameshift after exon 17.
19023603 A structural model for the N-terminal 690-residue region of alsin through comparative modelling based on regulator of chromosome condensation 1 was created.
18810511 Results suggest at least four recombination events in the ALS2 gene during maternal meiosis followed by a meiosis I error and postzygotic trisomy rescue or gamete complementation, in a patient with infantile-onset ascending spastic paralysis.
18523452 mutations in ALS2 also need to be considered in patients from northwestern Europe with early-onset spastic paralysis and amyotrophic or primary lateral sclerosis.
17955197 Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral sclerosis. [REVIEW]
17698795 ALS2 mutations are not implicated in the pathogenesis of adult-onset primary lateral sclerosis.
16085057 colocalization of Alsin with the centrosomal markers gamma-tubulin and A kinase anchoring protein.
16049005 ALS2/Alsin has a role in regulating Rac-PAK signaling and neurite outgrowth
15579468 Rac1, PI3 kinase, and Akt3 have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 mutant-induced motoneuronal cell death
15388334 These results suggest that amyotrophic lateral sclerosis 2 C-terminal like (ALS2CL), a novel ALS2 homologue, modulates Rab5-mediated endosome dynamics in HeLa cells.
15371724 A peptide derived from the ALS2 protein is selectively localized to the somatodendritic compartment of motor neurons in human spinal cord.
15247254 oligomerization of the ALS2 protein is one of the fundamental features for its physiological function involving endosome dynamics in vivo
14970233 Expression of alsin LF, but not alsin short form, protected motor neuronal cells from toxicity induced by mutants of the Cu/Zn-superoxide dismutase (SOD1) gene, which cause autosomal dominant ALS
14676054 Mutations of ALS2 are not a common cause of ALS.
14668431 Mutations in the ALS2 gene linked to early-onset motor neuron disease uniformly produce loss of activity through decreased protein stability of this endosomal protein.
12919135 A nonsense mutation in alsin was found in infantile spastic paraplegia. Full-length alsin is probably required for the proper development and/or functioning of upper motor neurons.
12866199 Observational study of gene-disease association. (HuGE Navigator)
12866199 deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS.
12837691 Perturbation of endosomal dynamics caused by loss of ALS2 rab5GEF activity might underlie neuronal dysfunction and degeneration.
12601111 16 patients from 11 unrelated families were studied with a phenotype of infantile ascending hereditary spastic paralysis (IAHSP); Alsin mutations were found in 4 of the 10 families, whereas haplotype analysis excluded the ALS2 locus in one family
12145748 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
12138710 causative genes for familial amyotrophic lateral sclerosis

AA Sequence

MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPW      1 - 70
RSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIA     71 - 140
DSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGA    141 - 210
FHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPST    211 - 280
ETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLR    281 - 350
KLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKK    351 - 420
VMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQ    421 - 490
VSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKE    491 - 560
VIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTED    561 - 630
FQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELAT    631 - 700
TERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLV    701 - 770
ILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLP    771 - 840
IRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKP    841 - 910
ERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLKITTPE    911 - 980
EQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYD    981 - 1050
GRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASG   1051 - 1120
EVFEGCFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVV   1121 - 1190
VTQFGLYYEGNFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKIT   1191 - 1260
GTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDNIAVALTTSRR   1261 - 1330
QHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPLHPLGRLVETLVAVYRMTYVG   1331 - 1400
VGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYV   1401 - 1470
VTSSGLLLPVLLPRLYPPLFMLYALDNDREEDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGES   1471 - 1540
KKVLPTTKDACFASAVECLQQISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVL   1541 - 1610
RARIRNLGSEVHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN                          1611 - 1657
//

Text Mined References (57)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25474699 2014 A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
25433428 2015 Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.
24704789 A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
24315819 2014 Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23282280 2013 A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21907703 2011 Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21300063 2011 Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19122027 2009 A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.
19023603 2009 An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin.
18810511 2009 Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18523452 2008 Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17955197 2007 Alsin and the molecular pathways of amyotrophic lateral sclerosis.
17698795 2007 Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17239822 2007 ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics.
16670179 2006 The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
16249884 2006 Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
16085057 2005 Alsin is partially associated with centrosome in human cells.
16049005 2005 ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15579468 2005 A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15388334 2004 ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.
15371724 2004 A novel somatodendritic marker defined by a peptide derived from the ALS2 protein.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15324660 2004 Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.
15247254 2004 Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking.
14970233 2004 Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14676054 2003 Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
14668431 2003 Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
12919135 2003 The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.
12866199 2003 Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.
12837691 2003 ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics.
12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
12138710 2002 [Causative genes for familial amyotrophic lateral sclerosis].
11687798 2001 Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
11586298 2001 A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
10997877 2000 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.
9933298 1998 Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33.
9889004 1999 A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.