AutismKB 2.0

Annotation Detail for ALS2


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Basic Information Top
Gene Symbol:ALS2 ( ALS2CR6,ALSJ,FLJ31851,IAHSP,KIAA1563,MGC87187,PLSJ )
Gene Full Name: amyotrophic lateral sclerosis 2 (juvenile)
Band: 2q33.1
Quick LinksEntrez ID:57679; OMIM: 606352; Uniprot ID:ALS2_HUMAN; ENSEMBL ID: ENSG00000003393; HGNC ID: 443
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
483Phosphoserine.
492Phosphoserine.
533N6-acetyllysine.
1344Phosphothreonine.
1464Phosphoserine.
Location(AA) Modifications Resource
483Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphoserine(PKG)HMM predict
8Phosphoserine(CK2)HMM predict
9Phosphothreonine(PKC)HMM predict
14Phosphoserine(CK1)HMM predict
31Phosphothreonine(MAPK)HMM predict
138Phosphoserine(IKK)HMM predict
190O-linkedHMM predict
266Phosphoserine(ATM)HMM predict
273O-linkedHMM predict
277Phosphoserine(CDC2)HMM predict
313Phosphothreonine(CK2)HMM predict
314O-linkedHMM predict
319Phosphoserine(CK1)HMM predict
339SulfotyrosineHMM predict
356Phosphoserine(CK2)HMM predict
361Phosphoserine(CK1)HMM predict
361Phosphoserine(CK2)HMM predict
370Phosphoserine(ATM)HMM predict
383Phosphoserine(IKK)HMM predict
386O-linkedHMM predict
387O-linkedHMM predict
388O-linkedHMM predict
389O-linkedHMM predict
483PhosphoserineHMM predict
483Phosphoserine(CK1)HMM predict
483Phosphoserine(PKA)HMM predict
483Phosphoserine(PKG)HMM predict
483Phosphoserine(CAMK2)HMM predict
510Phosphothreonine(MAPK)HMM predict
569Phosphotyrosine(INSR)HMM predict
594Phosphoserine(ATM)HMM predict
607Phosphoserine(PKG)HMM predict
652N-linkedHMM predict
654O-linkedHMM predict
656O-linkedHMM predict
658Phosphothreonine(CDK)HMM predict
669Phosphotyrosine(INSR)HMM predict
680Phosphotyrosine(Jak)HMM predict
680Phosphotyrosine(EGFR)HMM predict
700Phosphothreonine(PKC)HMM predict
787O-linkedHMM predict
862Phosphoserine(MAPK)HMM predict
875Phosphotyrosine(INSR)HMM predict
1001Phosphoserine(PKG)HMM predict
1001Phosphoserine(ATM)HMM predict
1019Phosphoserine(CDK)HMM predict
1039Phosphotyrosine(Syk)HMM predict
1146Phosphoserine(IKK)HMM predict
1175Phosphotyrosine(INSR)HMM predict
1221Phosphotyrosine(Syk)HMM predict
1226Phosphoserine(ATM)HMM predict
1244Phosphotyrosine(INSR)HMM predict
1244SulfotyrosineHMM predict
1250Phosphoserine(ATM)HMM predict
1327Phosphothreonine(PKC)HMM predict
1342Phosphoserine(IKK)HMM predict
1342Phosphoserine(ATM)HMM predict
1378Phosphothreonine(MAPK)HMM predict
1448Phosphothreonine(PKC)HMM predict
1462Phosphoserine(CK2)HMM predict
1464Phosphoserine(ATM)HMM predict
1469Phosphotyrosine(Jak)HMM predict
1504Phosphotyrosine(EGFR)HMM predict
1567Phosphothreonine(MAPK)HMM predict
1583Phosphoserine(ATM)HMM predict
1651IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020919
  • Location:chr2 202273521-202353982
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 202365753 202366087 334 11938
FOXA1 MCF7GSE15244 202353529 202354791 1262 178
H3K4me2 HCT116GSE10453 202354166 202355066 900 634
H3K4me3 colorectalcancer 202354465 202355066 601 783
Myc K562GSE19551 202360422 202360799 377 6628
P300 T30-glioblastomaGSE21026 202353402 202354836 1434 137
Rb GrowingGSE19898 202354291 202354454 163 390
Rb SenescentGSE19898 202353432 202354555 1123 11
USF1 HepG2E 202353875 202355066 1191 488
hScc1 G2GSE9613 202365753 202366087 334 11938
p130 QuiescentGSE19898 202354279 202354458 179 386
p130 SenescentGSE19898 202353732 202354629 897 198
p130 shRbSenescentGSE19898 202353651 202354781 1130 234
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 202353529 202353804 275 0
FOXA1 MCF7GSE15244 202327486 202327971 485 0
H3K4me2 HCT116GSE10453 202352825 202353194 369 0
H3K4me3 colorectalcancer 202352825 202353450 625 0
H3ac HepG2E 202352825 202353529 704 0
Oct4 ESGSE20650 202347058 202347306 248 0
Oct4 hESGSE17917 202347012 202347289 277 0
Oct4 hESGSE21916 202347038 202347436 398 0
Rb GrowingGSE19898 202353733 202353843 110 0
Rb QuiescentGSE19898 202353695 202354119 424 0
TAF k562GSE8489 202284402 202284807 405 0
hScc1 BcellGSE12603 202353598 202353804 206 0
p130 SenescentGSE19898 202353340 202353608 268 0
p130 shRbQuiescentGSE19898 202353394 202354222 828 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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