AutismKB 2.0

Annotation Detail for BMPR2


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Basic Information Top
Gene Symbol:BMPR2 ( BMPR-II,BMPR3,BMR2,BRK-3,FLJ41585,FLJ76945,PPH1,T-ALK )
Gene Full Name: bone morphogenetic protein receptor, type II (serine/threonine kinase)
Band: 2q33.1-q33.2
Quick LinksEntrez ID:659; OMIM: 600799; Uniprot ID:BMPR2_HUMAN; ENSEMBL ID: ENSG00000204217; HGNC ID: 1078
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
55N-linked (GlcNAc...) (Potential).
110N-linked (GlcNAc...) (Potential).
126N-linked (GlcNAc...) (Potential).
375Phosphoserine.
379Phosphothreonine.
513Phosphoserine.
515Phosphoserine.
586Phosphoserine.
680Phosphoserine.
681Phosphoserine.
757Phosphoserine.
862Phosphoserine.
863Phosphoserine.
Location(AA) Modifications Resource
55N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
110N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
126N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
757PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
27Phosphoserine(ATM)HMM predict
52Phosphoserine(PKG)HMM predict
55N-linkedHMM predict
102O-linkedHMM predict
104Phosphothreonine(MAPK)HMM predict
110N-linkedHMM predict
126N-linkedHMM predict
130N-linkedHMM predict
137O-linkedHMM predict
137Phosphothreonine(CDK)HMM predict
140Phosphoserine(MAPK)HMM predict
140Phosphoserine(ATM)HMM predict
140PhosphoserineHMM predict
247Phosphotyrosine(Syk)HMM predict
284N-linkedHMM predict
511N-linkedHMM predict
513Phosphoserine(PKG)HMM predict
513Phosphoserine(IKK)HMM predict
515Phosphoserine(CDC2)HMM predict
565N-linkedHMM predict
568Phosphoserine(CK2)HMM predict
571PhosphoserineHMM predict
571Phosphoserine(IKK)HMM predict
573O-linkedHMM predict
600O-linkedHMM predict
604Phosphoserine(CK1)HMM predict
604O-linkedHMM predict
604O-linkedHMM predict
606O-linkedHMM predict
607O-linkedHMM predict
609O-linkedHMM predict
611N-linkedHMM predict
612O-linkedHMM predict
613O-linkedHMM predict
616N-linkedHMM predict
617O-linkedHMM predict
621Phosphothreonine(MAPK)HMM predict
623O-linkedHMM predict
623O-linkedHMM predict
624O-linkedHMM predict
648O-linkedHMM predict
681Phosphoserine(CK1)HMM predict
700Phosphoserine(IKK)HMM predict
700Phosphoserine(CK2)HMM predict
702O-linkedHMM predict
757Phosphoserine(IKK)HMM predict
764N-linkedHMM predict
813N-linkedHMM predict
817N-linkedHMM predict
827N-linkedHMM predict
861N-linkedHMM predict
862Phosphoserine(CK2)HMM predict
863Phosphoserine(CDC2)HMM predict
902Phosphoserine(IKK)HMM predict
905N-linkedHMM predict
906N-linkedHMM predict
908N-linkedHMM predict
1003N-linkedHMM predict
1006N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001204
  • Location:chr2 202949915-203140717
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 202930161 202930749 588 19461
CTCF G2GSE9613 202948001 202948445 444 1693
CTCF G2GSE9613 202948851 202949434 583 773
ER MCF7GSE19013 202934864 202935574 710 14697
H3K4me3 colorectalcancer 202948035 202948648 613 1574
H3ac HepG2E 202947733 202948618 885 1740
PHF8 293TGSE20725 202948438 202949347 909 1023
PHF8 HeLaGSE20725 202948445 202950817 2372 285
PHF8 Hs68minusFBSGSE20725 202947882 202949427 1545 1261
PHF8 Hs68plusFBSGSE20725 202947686 202949530 1844 1308
PolII HeLaGSE12783 202948318 202950890 2572 312
TFAP2C MCF7GSE21234 202947800 202949116 1316 1458
hScc1 BcellGSE12603 202948782 202949859 1077 595
hScc1 CdLSGSE12603 202948296 202949579 1283 978
hScc1 G2GSE9613 202948074 202949825 1751 966
p130 shRbQuiescentGSE19898 202947947 202949058 1111 1413
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 202955682 202956005 323 0
H3K4me3 colorectalcancer 202950706 202951359 653 0
H3ac HepG2E 202952365 202952780 415 0
Oct4 ESGSE20650 203074701 203074950 249 0
P300 T30-glioblastomaGSE21026 203067196 203067835 639 0
Rb QuiescentGSE19898 203067330 203067539 209 0
Sox2 hESGSE18292 202974052 202974222 170 0
TAF k562GSE8489 202950793 202951526 733 0
hScc1 BcellGSE12603 202950337 202950623 286 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-17 hsa-mir-17 13 19390056
hsa-miR-17* hsa-mir-17 13 19390056
hsa-miR-19a hsa-mir-19a 13 19390056
hsa-miR-19a* hsa-mir-19a 13 19390056
hsa-miR-20a hsa-mir-20a 13 19390056
hsa-miR-20a* hsa-mir-20a 13 19390056
hsa-miR-21 hsa-mir-21 17 19578724
hsa-miR-21* hsa-mir-21 17 19578724
hsa-miR-92a hsa-mir-92a-1 13 19390056
hsa-miR-92a hsa-mir-92a-2 X 19390056
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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