Annotation Detail for HAO2

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Basic Information Top

Gene Symbol:	HAO2 ( GIG16,HAOX2 )
Gene Full Name:	hydroxyacid oxidase 2 (long chain)
Band:	1p12
Quick Links	Entrez ID:51179; OMIM: 605176; Uniprot ID:HAOX2_HUMAN; ENSEMBL ID: ENSG00000116882; HGNC ID: 4810
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:3 results

Location(AA)	Modification
351	Microbody targeting signal (Potential).

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_001005783
Location:chr1 119712924-119738273
strand:+

Upstream the gene:6 results
Downstream the gene:0 results
Inside the gene:11 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	119711749	119711892	143	1104
CTCF	CD4	SISSRdata	119711749	119711892	143	1104
CTCF	G2	GSE9613	119711630	119712013	383	1103
hScc1	Bcell	GSE12603	119711630	119712258	628	981
hScc1	CdLS	GSE12603	119711630	119712258	628	981
p63	keratinocytes	GSE17611	119702521	119703348	827	9990

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	119716696	119717026	330	0
FOXA1	MCF7	GSE15244	119718253	119719064	811	0
Oct1	H2O2-Hela	GSE14283	119731884	119731935	51	0
Oct1	H2O2-Hela	GSE14283	119736467	119736503	36	0
Oct1	Hela	GSE14283	119731884	119731935	51	0
Oct1	Hela	GSE14283	119736468	119736502	34	0
RARA	MCF7	GSE15244	119716330	119719136	2806	0
RARA	MCF7	GSE15244	119732041	119732901	860	0
RARG	MCF7	GSE15244	119718253	119719064	811	0
TFAP2C	MCF7	GSE21234	119732598	119733094	496	0
hScc1	Bcell	GSE12603	119732041	119732296	255	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

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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