AutismKB 2.0

Annotation Detail for PTCH2


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Basic Information Top
Gene Symbol:PTCH2 ( PTC2 )
Gene Full Name: patched 2
Band: 1p34.1
Quick LinksEntrez ID:8643; OMIM: 603673; Uniprot ID:PTC2_HUMAN; ENSEMBL ID: ENSG00000117425; HGNC ID: 9586
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
370N-linked (GlcNAc...) (Potential).
812N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
370N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
812N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphothreonine(MAPK)HMM predict
15PhosphothreonineHMM predict
15Phosphothreonine(CDK)HMM predict
49S-palmitoylHMM predict
110Phosphotyrosine(Abl)HMM predict
283S-palmitoylHMM predict
370N-linkedHMM predict
485Phosphothreonine(CDK)HMM predict
485Phosphothreonine(MAPK)HMM predict
637Phosphoserine(CDC2)HMM predict
637Phosphoserine(CDK)HMM predict
721Phosphothreonine(PKC)HMM predict
812N-linkedHMM predict
840Phosphothreonine(PKC)HMM predict
890Phosphotyrosine(Syk)HMM predict
969S-palmitoylHMM predict
1132Phosphoserine(CDC2)HMM predict
1132Phosphoserine(MAPK)HMM predict
1148Phosphoserine(IKK)HMM predict
1157Phosphothreonine(PKA)HMM predict
1184Phosphoserine(IKK)HMM predict
1188O-linkedHMM predict
1189O-linkedHMM predict
1192N-linkedHMM predict
1194Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003738
  • Location:chr1 45060674-45081202
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45057527 45057772 245 3025
ER MCF7GSE19013 45057700 45058497 797 2576
H3ac HepG2E 45055687 45056043 356 4810
H3ac HepG2E 45058261 45058411 150 2339
H3ac HepG2E 45058712 45059678 966 1480
Pol2 GM12878GSE19551 45057465 45058960 1495 2462
PolII HeLaGSE12783 45057146 45058815 1669 2694
RARA MCF7GSE15244 45057454 45057772 318 3062
RARA MCF7GSE15244 45058261 45058411 150 2339
hScc1 CdLSGSE12603 45057454 45057772 318 3062
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45074085 45074464 379 0
CTCF CD4SISSRdata 45074085 45074464 379 0
CTCF G2GSE9613 45064813 45065432 619 0
CTCF G2GSE9613 45065886 45066841 955 0
CTCF G2GSE9613 45073908 45074306 398 0
CTCF G2GSE9613 45077808 45078184 376 0
ER E2-MCF7GSE14664 45067479 45067511 32 0
ER E2-MCF7GSE14664 45071945 45071981 36 0
ER Fulvestrant-MCF7GSE14664 45067479 45067512 33 0
ER Fulvestrant-MCF7GSE14664 45071934 45071978 44 0
Oct1 HelaGSE14283 45066280 45066313 33 0
Oct1 HelaGSE14283 45067484 45067516 32 0
Oct1 HelaGSE14283 45071925 45071977 52 0
hScc1 BcellGSE12603 45074123 45074306 183 0
hScc1 CdLSGSE12603 45073908 45074306 398 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