AutismKB 2.0

Annotation Detail for TSC2


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Basic Information Top
Gene Symbol:TSC2 ( FLJ43106,LAM,TSC4 )
Gene Full Name: tuberous sclerosis 2
Band: 16p13.3
Quick LinksEntrez ID:7249; OMIM: 191092; Uniprot ID:TSC2_HUMAN; ENSEMBL ID: ENSG00000103197; HGNC ID: 12363
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
927Phosphothreonine.
939Phosphoserine; by PKB/AKT1.
981Phosphoserine.
1097Phosphoserine.
1132Phosphoserine.
1155Phosphoserine.
1334Phosphoserine.
1337Phosphoserine.
1338Phosphoserine.
1341Phosphoserine.
1364Phosphoserine (By similarity).
1387Phosphoserine.
1388Phosphoserine.
1411Phosphoserine.
1418Phosphoserine.
1420Phosphoserine.
1449Phosphoserine.
1452Phosphoserine.
1462Phosphothreonine; by PKB/AKT1.
1798Phosphoserine.
Location(AA) Modifications Resource
540PhosphoserinePhospho.ELM 6.0
664Phosphoserine (MAPK1)Phospho.ELM 6.0
939Phosphoserine (PKB
981PhosphoserinePhospho.ELM 6.0
981Phosphoserine (By similarity).Swiss-Prot 53.0
1254Phosphoserine (MAPKAPK2)Phospho.ELM 6.0
1364Phosphoserine (By similarity).Swiss-Prot 53.0
1387PhosphoserinePhospho.ELM 6.0
1387Phosphoserine.Swiss-Prot 53.0
1411Phosphoserine.Swiss-Prot 53.0
1411PhosphoserinePhospho.ELM 6.0
1418PhosphoserinePhospho.ELM 6.0
1418Phosphoserine.Swiss-Prot 53.0
1420Phosphoserine.Swiss-Prot 53.0
1420PhosphoserinePhospho.ELM 6.0
1462Phosphothreonine (PKB
1571PhosphotyrosinePhospho.ELM 6.0
1798Phosphoserine (RSK
1798Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
70Phosphothreonine(PKC)HMM predict
144MethyllysineHMM predict
206S-palmitoylHMM predict
256S-palmitoylHMM predict
285Phosphotyrosine(Syk)HMM predict
285Phosphotyrosine(INSR)HMM predict
311Phosphoserine(PKA)HMM predict
315Phosphoserine(CDC2)HMM predict
315Phosphoserine(IKK)HMM predict
374Phosphothreonine(PKC)HMM predict
491Phosphoserine(ATM)HMM predict
540Phosphoserine(PKA)HMM predict
540Phosphoserine(ATM)HMM predict
540Phosphoserine(CDC2)HMM predict
540Phosphoserine(MAPK)HMM predict
540PhosphoserineHMM predict
602Phosphotyrosine(INSR)HMM predict
660O-linkedHMM predict
664Phosphoserine(ATM)HMM predict
664Phosphoserine(CDC2)HMM predict
664O-linkedHMM predict
667O-linkedHMM predict
739Phosphoserine(MAPK)HMM predict
746Phosphothreonine(PKC)HMM predict
779Phosphotyrosine(Syk)HMM predict
877N-linkedHMM predict
882N-linkedHMM predict
938Phosphothreonine(PKA)HMM predict
939Phosphoserine(PKB)HMM predict
958N-linkedHMM predict
959N-linkedHMM predict
960Phosphoserine(CDK)HMM predict
969Phosphoserine(CK2)HMM predict
994O-linkedHMM predict
997O-linkedHMM predict
1037N-linkedHMM predict
1045Phosphoserine(CDC2)HMM predict
1071O-linkedHMM predict
1090Phosphoserine(ATM)HMM predict
1094Phosphoserine(IKK)HMM predict
1095O-linkedHMM predict
1096Phosphoserine(CK1)HMM predict
1096O-linkedHMM predict
1097Phosphoserine(ATM)HMM predict
1097Phosphoserine(CDC2)HMM predict
1097O-linkedHMM predict
1105Phosphothreonine(PKC)HMM predict
1155Phosphoserine(CDC2)HMM predict
1155Phosphoserine(CDK)HMM predict
1155O-linkedHMM predict
1203Phosphothreonine(PKA)HMM predict
1207Phosphoserine(CAMK2)HMM predict
1217Phosphoserine(CDC2)HMM predict
1217Phosphoserine(ATM)HMM predict
1259O-linkedHMM predict
1277O-linkedHMM predict
1290Phosphoserine(ATM)HMM predict
1292Phosphoserine(IKK)HMM predict
1292Phosphoserine(PKB)HMM predict
1338Phosphoserine(CK1)HMM predict
1338Phosphoserine(IKK)HMM predict
1340Phosphoserine(CK2)HMM predict
1341Phosphoserine(CK1)HMM predict
1341Phosphoserine(ATM)HMM predict
1346Phosphoserine(CK1)HMM predict
1379Phosphoserine(ATM)HMM predict
1383Phosphoserine(IKK)HMM predict
1385Phosphoserine(IKK)HMM predict
1387Phosphoserine(CK1)HMM predict
1388Phosphoserine(IKK)HMM predict
1411Phosphoserine(MAPK)HMM predict
1420Phosphoserine(IKK)HMM predict
1447O-linkedHMM predict
1449Phosphoserine(CDC2)HMM predict
1449O-linkedHMM predict
1449Phosphoserine(ATM)HMM predict
1452Phosphoserine(CDK)HMM predict
1452Phosphoserine(IKK)HMM predict
1452Phosphoserine(CDC2)HMM predict
1464Phosphoserine(ATM)HMM predict
1487O-linkedHMM predict
1522N-linkedHMM predict
1651N-linkedHMM predict
1723Phosphoserine(ATM)HMM predict
1728O-linkedHMM predict
1731N-linkedHMM predict
1760Phosphotyrosine(INSR)HMM predict
1760Phosphotyrosine(SRC)HMM predict
1762N-linkedHMM predict
1764O-linkedHMM predict
1774O-linkedHMM predict
1780PhosphothreonineHMM predict
1780Phosphothreonine(MAPK)HMM predict
1785Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001077183
  • Location:chr16 2037990-2078712
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
VDR GM10861-stimGSE22484 2037334 2038525 1191 61
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2048582 2048769 187 0
CTCF G2GSE9613 2061242 2061603 361 0
CTCF G2GSE9613 2074599 2075016 417 0
CTCF G2GSE9613 2075465 2076587 1122 0
ETS1 JurkatGSE17954 2037406 2038623 1217 0
GABP k562GSE8489 2037976 2039045 1069 0
GABP k562GSE8489 2040251 2040567 316 0
H3K4me3 colorectalcancer 2038437 2039045 608 0
H3ac HepG2E 2038361 2039045 684 0
TFAP2C MCF7GSE21234 2046916 2047559 643 0
TFAP2C MCF7GSE21234 2059941 2060258 317 0
USF1 HepG2E 2038361 2039045 684 0
hScc1 BcellGSE12603 2053690 2054139 449 0
hScc1 BcellGSE12603 2072225 2073029 804 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-145 hsa-mir-145 5 20382746
hsa-miR-145* hsa-mir-145 5 20382746
No data
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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