AutismKB 2.0

Annotation Detail for GNPDA2


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Basic Information Top
Gene Symbol:GNPDA2 ( GNP2,SB52 )
Gene Full Name: glucosamine-6-phosphate deaminase 2
Band: 4p12
Quick LinksEntrez ID:132789; OMIM: 613222; Uniprot ID:GNPI2_HUMAN; ENSEMBL ID: ENSG00000163281; HGNC ID: 21526
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138335
  • Location:chr4 44398925-44423368
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44435508 44435687 179 12229
CTCF CD4SISSRdata 44435508 44435687 179 12229
H3K4me3 colorectalcancer 44423399 44424000 601 331
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44422818 44423435 617 0
H3K4me3 colorectalcancer 44422313 44422777 464 0
H3ac HepG2E 44422276 44422917 641 0
Oct1 HelaGSE14283 44412550 44412634 84 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-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
122 Unknown MicroArray miR-1 GNPDA2 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000163281 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, 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