AutismKB 2.0

Annotation Detail for PTPN12


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Basic Information Top
Gene Symbol:PTPN12 ( PTP-PEST,PTPG1 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 12
Band: 7q11.23
Quick LinksEntrez ID:5782; OMIM: 600079; Uniprot ID:PTN12_HUMAN; ENSEMBL ID: ENSG00000127947; HGNC ID: 9645
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
186Phosphoserine (By similarity).
332Phosphoserine.
435Phosphoserine.
468Phosphoserine.
514Phosphoserine.
519Phosphothreonine.
569Phosphothreonine.
571Phosphoserine.
588Phosphoserine.
596Phosphoserine (By similarity).
598Phosphothreonine (By similarity).
603Phosphoserine.
606Phosphoserine.
608Phosphoserine.
613Phosphoserine.
673Phosphoserine.
689Phosphoserine.
693Phosphothreonine.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
39Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
332PhosphoserinePhospho.ELM 6.0
332Phosphoserine.Swiss-Prot 53.0
435Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
596Phosphoserine (By similarity).Swiss-Prot 53.0
598Phosphothreonine (By similarity).Swiss-Prot 53.0
603Phosphoserine.Swiss-Prot 53.0
603PhosphoserinePhospho.ELM 6.0
606PhosphoserinePhospho.ELM 6.0
606Phosphoserine.Swiss-Prot 53.0
608PhosphoserinePhospho.ELM 6.0
608Phosphoserine (By similarity).Swiss-Prot 53.0
673Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
39Phosphoserine(PKA)HMM predict
39Phosphoserine(PKC)HMM predict
44Phosphothreonine(PKC)HMM predict
83Phosphoserine(ATM)HMM predict
83Phosphoserine(PKC)HMM predict
88Phosphotyrosine(INSR)HMM predict
88Phosphotyrosine(EGFR)HMM predict
194SulfotyrosineHMM predict
208Phosphoserine(IKK)HMM predict
271Phosphothreonine(PKC)HMM predict
275Phosphoserine(IKK)HMM predict
279Phosphothreonine(PKC)HMM predict
367O-linkedHMM predict
367Phosphothreonine(CDK)HMM predict
367PhosphothreonineHMM predict
372O-linkedHMM predict
402Phosphoserine(PKA)HMM predict
408N-linkedHMM predict
419N-linkedHMM predict
435Phosphoserine(PKA)HMM predict
449Phosphoserine(IKK)HMM predict
483Phosphoserine(CK1)HMM predict
494Phosphoserine(IKK)HMM predict
507Phosphoserine(PKG)HMM predict
509Phosphothreonine(CDK)HMM predict
509Phosphothreonine(MAPK)HMM predict
514Phosphoserine(ATM)HMM predict
517O-linkedHMM predict
519Phosphothreonine(MAPK)HMM predict
519Phosphothreonine(CDC2)HMM predict
519Phosphothreonine(CDK)HMM predict
554N-linkedHMM predict
556Phosphoserine(CK2)HMM predict
559N-linkedHMM predict
567Phosphoserine(IKK)HMM predict
569Phosphothreonine(MAPK)HMM predict
569O-linkedHMM predict
569Phosphothreonine(CDK)HMM predict
571Phosphoserine(CDK)HMM predict
571Phosphoserine(CDC2)HMM predict
571Phosphoserine(IKK)HMM predict
606Phosphoserine(CK2)HMM predict
606Phosphoserine(CK1)HMM predict
608Phosphoserine(CK1)HMM predict
620N-linkedHMM predict
623N-linkedHMM predict
626O-linkedHMM predict
628O-linkedHMM predict
630O-linkedHMM predict
632Phosphoserine(IKK)HMM predict
632O-linkedHMM predict
632O-linkedHMM predict
635O-linkedHMM predict
636O-linkedHMM predict
641O-linkedHMM predict
681Phosphothreonine(MAPK)HMM predict
693Phosphothreonine(MAPK)HMM predict
693Phosphothreonine(CDC2)HMM predict
700Phosphoserine(IKK)HMM predict
704Phosphoserine(CK1)HMM predict
704Phosphoserine(ATM)HMM predict
753N-linkedHMM predict
776ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002835
  • Location:chr7 77004770-77107321
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 77003830 77004192 362 760
H3K4me3 colorectalcancer 77003574 77003896 322 1036
H3ac HepG2E 77003574 77004192 618 888
NFkBII GM10847GSE19485 77003388 77004554 1166 800
PHF8 293TGSE20725 77003593 77004293 700 828
hScc1 BcellGSE12603 77003574 77004192 618 888
hScc1 CdLSGSE12603 77003610 77004046 436 943
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 77108299 77108654 355 1155
CTCF CD4GSE12889 77118910 77119089 179 11678
CTCF CD4GSE12889 77125033 77125323 290 17857
CTCF CD4SISSRdata 77118910 77119089 179 11678
CTCF CD4SISSRdata 77125033 77125323 290 17857
CTCF G2GSE9613 77118810 77119190 380 11679
Oct1 HelaGSE14283 77121684 77121738 54 14390
Oct1 HelaGSE14283 77123709 77123735 26 16401
hScc1 BcellGSE12603 77118733 77119190 457 11640
hScc1 CdLSGSE12603 77118628 77119190 562 11588
hScc1 G2GSE9613 77118770 77119438 668 11783
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 77007220 77007441 221 0
H3ac HepG2E 77005240 77005808 568 0
RARA MCF7GSE15244 77007282 77007451 169 0
TFAP2C MCF7GSE21234 77007148 77007759 611 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-141 hsa-mir-141 12 16762633
hsa-miR-141* hsa-mir-141 12 16762633
hsa-miR-200b hsa-mir-200b 1 16762633
hsa-miR-200b* hsa-mir-200b 1 16762633
hsa-miR-21 hsa-mir-21 17 16762633
hsa-miR-21* hsa-mir-21 17 16762633
hsa-miR-23a hsa-mir-23a 19 16762633
hsa-miR-23a* hsa-mir-23a 19 16762633
hsa-miR-27a hsa-mir-27a 19 16762633
hsa-miR-27a* hsa-mir-27a 19 16762633
hsa-miR-34a hsa-mir-34a 1 16762633
hsa-miR-34a* hsa-mir-34a 1 16762633
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
333 Unknown MicroArray miR-124 PTPN12 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000127947 G1-to-S transition n_a n_a "epithelium, lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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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