AutismKB 2.0

Annotation Detail for P4HA2


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Basic Information Top
Gene Symbol:P4HA2 ( - )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide II
Band: 5q31.1
Quick LinksEntrez ID:8974; OMIM: 600608; Uniprot ID:P4HA2_HUMAN; ENSEMBL ID: ENSG00000072682; HGNC ID: 8547
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
115N-linked (GlcNAc...) (Potential).
264N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
115N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
264N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
47Phosphotyrosine(INSR)HMM predict
56Phosphoserine(PKG)HMM predict
182SulfotyrosineHMM predict
203O-linkedHMM predict
264N-linkedHMM predict
277Phosphotyrosine(SRC)HMM predict
302Phosphothreonine(MAPK)HMM predict
302Phosphothreonine(CDC2)HMM predict
365Phosphothreonine(PKC)HMM predict
457Phosphotyrosine(INSR)HMM predict
521ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001017973
  • Location:chr5 131556204-131590833
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 131543782 131544088 306 12270
CTCF HelaGSE12889 131553818 131554144 326 2224
CTCF G2GSE9613 131543733 131544179 446 12249
CTCF G2GSE9613 131544531 131544857 326 11511
CTCF G2GSE9613 131546177 131546440 263 9896
ETS1 JurkatGSE17954 131553539 131554246 707 2312
Fos K562GSE19551 131548083 131548595 512 7866
Gata1 K562GSE18868 131541213 131541694 481 14751
Gata2 K562GSE18868 131541239 131541736 497 14717
Oct1 HelaGSE14283 131536577 131536654 77 19589
Oct1 HelaGSE14283 131553563 131553592 29 2627
P300 T30-glioblastomaGSE21026 131553578 131554273 695 2279
Rb GrowingGSE19898 131553931 131554090 159 2194
STAT1 IFNSISSRdata 131553750 131554311 561 2174
hScc1 BcellGSE12603 131543697 131544003 306 12355
hScc1 CdLSGSE12603 131543803 131544179 376 12214
hScc1 G2GSE9613 131543653 131545051 1398 11853
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 131567417 131567675 258 0
CTCF G2GSE9613 131576219 131576636 417 0
CTCF G2GSE9613 131578871 131579253 382 0
CTCF G2GSE9613 131580700 131580880 180 0
CTCF G2GSE9613 131581767 131582805 1038 0
CTCF G2GSE9613 131585550 131586096 546 0
CTCF G2GSE9613 131589255 131589606 351 0
H3K4me2 HCT116GSE10453 131588346 131588918 572 0
H3K4me2 HCT116GSE10453 131589954 131590531 577 0
Oct1 H2O2-HelaGSE14283 131574754 131574787 33 0
Oct1 HelaGSE14283 131574754 131574785 31 0
P300 T30-glioblastomaGSE21026 131578612 131579716 1104 0
TFAP2C MCF7GSE21234 131578977 131579510 533 0
TFAP2C MCF7GSE21234 131588859 131589741 882 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1259 Unknown pSILAC miR-30 P4HA2 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000072682 n_a n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, muscle cell, macrophage" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21441 EST chr5 131548467 131556397 196 mRNA P4HA2 chr5 131556201 131590458Sense/Antisense (SA) pairs

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