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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{PBB|geneid=57679}}
{{Infobox_gene}}
'''Amyotrophic lateral sclerosis 2 (juvenile)''', also known as '''ALS2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679| accessdate = }}</ref>
'''Alsin''' is a [[protein]] that in humans is encoded by the ''ALS2'' [[gene]].<ref name="pmid11586298">{{cite journal |vauthors=Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, ((Brown RH Jr)), Scherer SW, Rouleau GA, Hayden MR, Ikeda JE | title = A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 | journal = Nat Genet | volume = 29 | issue = 2 | pages = 166–73 |date=Oct 2001 | pmid = 11586298 | doi = 10.1038/ng1001-166 | s2cid = 52828189 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679}}</ref> ''ALS2'' [[orthologs]]<ref name="OrthoMaM">{{cite web | title = OrthoMaM phylogenetic marker: ALS2 coding sequence | url = http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml | access-date = 2009-12-09 | archive-url = https://web.archive.org/web/20160304031500/http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml | archive-date = 2016-03-04 | url-status = dead }}</ref> have been identified in all [[mammals]] for which complete genome data are available.


==See also==
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* [[Juvenile primary lateral sclerosis]]
{{PBB_Summary
* [[Amyotrophic lateral sclerosis]]
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Also knows as Alsin


==References==
==References==
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==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
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*{{cite journal | author=Hadano S |title=[Causative genes for familial amyotrophic lateral sclerosis] |journal=Seikagaku |volume=74 |issue= 6 |pages= 483–9 |year= 2002 |pmid= 12138710 }}
{{PBB_Further_reading
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*{{cite journal | author=Nakajima D |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 | name-list-style=vanc | author2=Okazaki N | author3=Yamakawa H | display-authors=3 | last4=Kikuno | first4=R | last5=Ohara | first5=O | last6=Nagase | first6=T | doi-access=free }}
| citations =
*{{cite journal | author=Hadano S |title=[Causative genes for familial amyotrophic lateral sclerosis] |journal=Seikagaku |volume=74 |issue= 6 |pages= 483–9 |year= 2002 |pmid= 12138710 |doi= }}
*{{cite journal | author=Hadano S |title=A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34 |journal=Genomics |volume=55 |issue= 1 |pages= 106–12 |year= 1999 |pmid= 9889004 |doi= 10.1006/geno.1998.5637 | name-list-style=vanc | author2=Nichol K | author3=Brinkman RR | display-authors=3 | last4=Nasir | first4=J | last5=Martindale | first5=D | last6=Koop | first6=BF | last7=Nicholson | first7=DW | last8=Scherer | first8=SW | last9=Ikeda | first9=JE }}
⚫
*{{cite journal | author=Hosler BA |title=Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33 |journal=Neurogenetics |volume=2 |issue= 1 |pages= 34–42 |year= 2000 |pmid= 9933298 |doi=10.1007/s100480050049 | name-list-style=vanc | author2=Sapp PC | author3=Berger R | display-authors=3 | last4=O'Neill | first4=Gilmore | last5=Bejaoui | first5=Khemissa | last6=Hamida | first6=Mongi Ben | last7=Hentati | first7=Faycal | last8=Chin | first8=Wendy | last9=McKenna-Yasek | first9=Diane |s2cid=33368578 }}
⚫
*{{cite journal | author=Nakajima D, Okazaki N, Yamakawa H, ''et al.'' |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 }}
*{{cite journal | author=Hadano S, Nichol K, Brinkman RR, ''et al.'' |title=A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. |journal=Genomics |volume=55 |issue= 1 |pages= 106–12 |year= 1999 |pmid= 9889004 |doi= 10.1006/geno.1998.5637 }}
*{{cite journal | author=Nagase T |title=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 |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi= 10.1093/dnares/7.4.271| name-list-style=vanc | author2=Kikuno R | author3=Nakayama M | display-authors=3 | last4=Hirosawa | first4=M | last5=Ohara | first5=O | doi-access=free }}
⚫
*{{cite journal | author=Yang Y |title=The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 160–5 |year= 2001 |pmid= 11586297 |doi= 10.1038/ng1001-160 | name-list-style=vanc | author2=Hentati A | author3=Deng HX | display-authors=3 | last4=Dabbagh | first4=Omar | last5=Sasaki | first5=Toru | last6=Hirano | first6=Makito | last7=Hung | first7=Wu-Yen | last8=Ouahchi | first8=Karim | last9=Yan | first9=Jianhua |s2cid=9036123 }}
⚫
*{{cite journal | author=Hosler BA, Sapp PC, Berger R, ''et al.'' |title=Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. |journal=Neurogenetics |volume=2 |issue= 1 |pages= 34–42 |year= 2000 |pmid= 9933298 |doi=10.1007/s100480050049 }}
⚫
*{{cite journal | author=Birkenhäger R |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310–4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752 | name-list-style=vanc | author2=Otto E | author3=Schürmann MJ | display-authors=3 | last4=Vollmer | first4=Martin | last5=Ruf | first5=Eva-Maria | last6=Maier-Lutz | first6=Irina | last7=Beekmann | first7=Frank | last8=Fekete | first8=Andrea | last9=Omran | first9=Heymut |s2cid=5892001 }}
*{{cite journal | author=Nagase T, Kikuno R, Nakayama M, ''et al.'' |title=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. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi= }}
*{{cite journal | author=Eymard-Pierre E |title=Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 518–27 |year= 2002 |pmid= 12145748 |doi=10.1086/342359 | pmc=379189 | name-list-style=vanc | author2=Lesca G | author3=Dollet S | display-authors=3 | last4=Santorelli | first4=Filippo Maria | last5=Di Capua | first5=Matteo | last6=Bertini | first6=Enrico | last7=Boespflug-Tanguy | first7=Odile }}
⚫
*{{cite journal | author=Yang Y, Hentati A, Deng HX, ''et al.'' |title=The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 160–5 |year= 2001 |pmid= 11586297 |doi= 10.1038/ng1001-160 }}
⚫
*{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | name-list-style=vanc | author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
⚫
*{{cite journal | author=Hadano S, Hand CK, Osuga H, ''et al.'' |title=A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 166–73 |year= 2001 |pmid= 11586298 |doi= 10.1038/ng1001-166 }}
*{{cite journal | author=Lesca G |title=Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families |journal=Neurology |volume=60 |issue= 4 |pages= 674–82 |year= 2004 |pmid= 12601111 |doi= 10.1212/01.wnl.0000048207.28790.25| name-list-style=vanc | author2=Eymard-Pierre E | author3=Santorelli FM | display-authors=3 | last4=Cusmai | first4=R | last5=Di Capua | first5=M | last6=Valente | first6=EM | last7=Attia-Sobol | first7=J | last8=Plauchu | first8=H | last9=Leuzzi | first9=V |s2cid=20968387 }}
⚫
*{{cite journal | author=Birkenhäger R, Otto E, Schürmann MJ, ''et al.'' |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310–4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752 }}
*{{cite journal | author=Otomo A |title=ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1671–87 |year= 2003 |pmid= 12837691 |doi=10.1093/hmg/ddg184 | name-list-style=vanc | author2=Hadano S | author3=Okada T | display-authors=3 | last4=Mizumura | first4=H | last5=Kunita | first5=R | last6=Nishijima | first6=H | last7=Showguchi-Miyata | first7=J | last8=Yanagisawa | first8=Y | last9=Kohiki | first9=E | doi-access=free }}
*{{cite journal | author=Eymard-Pierre E, Lesca G, Dollet S, ''et al.'' |title=Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 518–27 |year= 2002 |pmid= 12145748 |doi=10.1086/342359 }}
*{{cite journal | author=Nagano I |title=Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis |journal=Neurol. Res. |volume=25 |issue= 5 |pages= 505–9 |year= 2003 |pmid= 12866199 |doi=10.1179/016164103101201733 | name-list-style=vanc | author2=Murakami T | author3=Shiote M | display-authors=3 | last4=Manabe | first4=Yasuhiro | last5=Hadano | first5=Shinji | last6=Yanagisawa | first6=Yoshiko | last7=Ikeda | first7=Joh-E | last8=Abe | first8=Koji |s2cid=42350605 }}
⚫
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Lesca G, Eymard-Pierre E, Santorelli FM, ''et al.'' |title=Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. |journal=Neurology |volume=60 |issue= 4 |pages= 674–82 |year= 2004 |pmid= 12601111 |doi= }}
*{{cite journal | author=Devon RS |title=The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 210–5 |year= 2004 |pmid= 12919135 |doi=10.1034/j.1399-0004.2003.00138.x | name-list-style=vanc | author2=Helm JR | author3=Rouleau GA | display-authors=3 | last4=Leitner | first4=Y | last5=Lerman-Sagie | first5=T | last6=Lev | first6=D | last7=Hayden | first7=MR |s2cid=27423316 }}
*{{cite journal | author=Otomo A, Hadano S, Okada T, ''et al.'' |title=ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1671–87 |year= 2003 |pmid= 12837691 |doi=10.1093/hmg/ddg184 }}
*{{cite journal | author=Yamanaka K |title=Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 26 |pages= 16041–6 |year= 2004 |pmid= 14668431 |doi= 10.1073/pnas.2635267100 | pmc=307689 | name-list-style=vanc | author2=Vande Velde C | author3=Eymard-Pierre E | display-authors=3 | last4=Bertini | first4=E | last5=Boespflug-Tanguy | first5=O | last6=Cleveland | first6=DW |doi-access=free }}
*{{cite journal | author=Nagano I, Murakami T, Shiote M, ''et al.'' |title=Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. |journal=Neurol. Res. |volume=25 |issue= 5 |pages= 505–9 |year= 2003 |pmid= 12866199 |doi=10.1179/016164103101201733 }}
*{{cite journal | author=Hand CK |title=Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis |journal=Arch. Neurol. |volume=60 |issue= 12 |pages= 1768–71 |year= 2004 |pmid= 14676054 |doi= 10.1001/archneur.60.12.1768 | name-list-style=vanc | author2=Devon RS | author3=Gros-Louis F | display-authors=3 | last4=Rochefort | first4=D | last5=Khoris | first5=J | last6=Meininger | first6=V | last7=Bouchard | first7=JP | last8=Camu | first8=W | last9=Hayden | first9=MR | doi-access= }}
*{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 | name-list-style=vanc | author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
*{{cite journal | author=Devon RS, Helm JR, Rouleau GA, ''et al.'' |title=The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 210–5 |year= 2004 |pmid= 12919135 |doi=10.1034/j.1399-0004.2003.00138.x }}
*{{cite journal | author=Yamanaka K, Vande Velde C, Eymard-Pierre E, ''et al.'' |title=Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 26 |pages= 16041–6 |year= 2004 |pmid= 14668431 |doi= 10.1073/pnas.2635267100 }}
*{{cite journal | author=Kanekura K |title=Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants |journal=J. Biol. Chem. |volume=279 |issue= 18 |pages= 19247–56 |year= 2004 |pmid= 14970233 |doi= 10.1074/jbc.M313236200 | name-list-style=vanc | author2=Hashimoto Y | author3=Niikura T | display-authors=3 | last4=Aiso | first4=S | last5=Matsuoka | first5=M | last6=Nishimoto | first6=I | doi-access=free }}
*{{cite journal | author=Hand CK, Devon RS, Gros-Louis F, ''et al.'' |title=Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. |journal=Arch. Neurol. |volume=60 |issue= 12 |pages= 1768–71 |year= 2004 |pmid= 14676054 |doi= 10.1001/archneur.60.12.1768 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Kanekura K, Hashimoto Y, Niikura T, ''et al.'' |title=Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants. |journal=J. Biol. Chem. |volume=279 |issue= 18 |pages= 19247–56 |year= 2004 |pmid= 14970233 |doi= 10.1074/jbc.M313236200 }}
}}
{{refend}}
{{refend}}


==External links==
⚫
{{gene-2-stub}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=iahsp GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders]
* [https://www.ncbi.nlm.nih.gov/omim/205100,606352,606353,607225,205100,606352,606353,607225 OMIM entries on ALS2-Related Disorders]
*[http://ghr.nlm.nih.gov/gene/ALS2 Genetics Home Reference- US National Library of Medicine]
* {{UCSC gene info|ALS2}}


{{GTP-binding protein regulators}}
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Latest revision as of 19:53, 19 April 2024

ALS2
Identifiers
AliasesALS2, ALS2CR6, ALSJ, IAHSP, PLSJ, alsin Rho guanine nucleotide exchange factor, alsin Rho guanine nucleotide exchange factor ALS2
External IDsOMIM: 606352; MGI: 1921268; HomoloGene: 23264; GeneCards: ALS2; OMA:ALS2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

57679

74018

Ensembl

ENSG00000003393

ENSMUSG00000026024

UniProt

Q96Q42

Q920R0

RefSeq (mRNA)

NM_001135745
NM_020919

NM_001159948
NM_028717
NM_146109

RefSeq (protein)

NP_001129217
NP_065970

NP_001153420
NP_082993
NP_666221

Location (UCSC)Chr 2: 201.7 – 201.78 MbChr 1: 59.2 – 59.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Alsin is a protein that in humans is encoded by the ALS2 gene.[5][6] ALS2 orthologs[7] have been identified in all mammals for which complete genome data are available.

See also

[edit]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000003393 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026024 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298. S2CID 52828189.
  6. ^ "Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)".
  7. ^ "OrthoMaM phylogenetic marker: ALS2 coding sequence". Archived from the original on 2016-03-04. Retrieved 2009-12-09.

Further reading

[edit]
[edit]


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