AutismKB 2.0

Annotation Detail for PCSK2


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Basic Information Top
Gene Symbol:PCSK2 ( NEC2,PC2,SPC2 )
Gene Full Name: proprotein convertase subtilisin/kexin type 2
Band: 20p12.1
Quick LinksEntrez ID:5126; OMIM: 162151; Uniprot ID:NEC2_HUMAN; ENSEMBL ID: ENSG00000125851; HGNC ID: 8744
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
375N-linked (GlcNAc...) (Potential).
514N-linked (GlcNAc...) (Potential).
524N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
375N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
514N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
524N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
82Phosphoserine(PKG)HMM predict
82Phosphoserine(PKA)HMM predict
111Phosphotyrosine(INSR)HMM predict
111Phosphotyrosine(EGFR)HMM predict
127Phosphothreonine(PKC)HMM predict
172SulfotyrosineHMM predict
172Phosphotyrosine(Jak)HMM predict
349Phosphoserine(IKK)HMM predict
349Phosphoserine(CK1)HMM predict
350O-linkedHMM predict
375N-linkedHMM predict
514N-linkedHMM predict
524N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002594
  • Location:chr20 17155630-17413219
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 17143836 17144094 258 11666
NRSF JurkatGSE13047 17154376 17156735 2359 75
NRSF JurkatSISSRdata 17143836 17144063 227 11681
NRSF mAbJurkat 17147500 17148595 1095 7583
NRSF mAbJurkat 17151037 17151905 868 4160
NRSF-mono JurkatQuESTdata 17143835 17144092 257 11667
NRSF-poly JurkatQuESTdata 17143751 17144110 359 11700
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17360421 17360673 252 0
CTCF CD4SISSRdata 17360421 17360673 252 0
CTCF HelaGSE12889 17360429 17360710 281 0
CTCF JurkatGSE12889 17210207 17210404 197 0
CTCF G2GSE9613 17360419 17360795 376 0
FOXA1 MCF7GSE15244 17287174 17287948 774 0
FOXA1 MCF7GSE15244 17363727 17364665 938 0
FOXA1 eGFPGSE10845 17287174 17287948 774 0
FOXA1 eGFPGSE10845 17363727 17364665 938 0
FoxA1 MCF7MACSdata 17162375 17162567 192 0
FoxA1 MCF7MACSdata 17287615 17287792 177 0
H3K27me3 colorectalcancer 17155932 17157335 1403 0
NRSF mAbJurkat 17152316 17159364 7048 0
NRSF-mono JurkatQuESTdata 17154522 17156747 2225 0
NRSF-mono JurkatQuESTdata 17368455 17368934 479 0
NRSF-poly JurkatQuESTdata 17154549 17156735 2186 0
NRSF-poly JurkatQuESTdata 17368455 17368959 504 0
PAX3-FKHR Rh4GSE19063 17286765 17288472 1707 0
RARA MCF7GSE15244 17286823 17287948 1125 0
Rb GrowingGSE19898 17272322 17272454 132 0
Sox2 hESGSE18292 17371067 17371547 480 0
TFAP2C MCF7GSE21234 17287316 17288089 773 0
hScc1 BcellGSE12603 17360419 17360795 376 0
hScc1 BcellGSE12603 17396696 17396949 253 0
hScc1 BcellGSE12603 17400786 17401108 322 0
hScc1 BcellGSE12603 17402671 17403035 364 0
hScc1 CdLSGSE12603 17360313 17360861 548 0
hScc1 G2GSE9613 17360200 17360795 595 0
p63 keratinocytesGSE17611 17355980 17356890 910 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