ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	EGLN3
Symbol Alias	PHD3, HIFPH3
Approved Name	egl-9 family hypoxia-inducible factor 3
Previous Name	"EGL nine (C.elegans) homolog 3", "egl nine homolog 3 (C. elegans)"
Name Alias	"HIF prolyl hydroxylase 3"
Location	14q12
Position	chr14:34393437-34931980, -1
External Links	HGNC: 14661 Entrez Gene: 112399 Ensembl: ENSG00000129521 UCSC: uc001wsa.4
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by Literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 12)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs12432593	chr14:34731592(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs4624074	chr14:34744426(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs11625217	chr14:34728231(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 9)

rs_ID	Location	Functional Annotation
rs4981227	chr14:34730082(Fwd)	intron_variant; nc_transcript_variant
rs880666	chr14:34733092(Fwd)	intron_variant; nc_transcript_variant
rs11624983	chr14:34754717(Fwd)	intron_variant; nc_transcript_variant
rs12589492	chr14:34768053(Fwd)	intron_variant; nc_transcript_variant
rs10140955	chr14:34728363(Fwd)	intron_variant; nc_transcript_variant
rs2210068	chr14:34738571(Fwd)	intron_variant; nc_transcript_variant
rs11847700	chr14:34745812(Fwd)	intron_variant; nc_transcript_variant
rs12432591	chr14:34731377(Fwd)	intron_variant; nc_transcript_variant
rs11625107	chr14:34728127(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 20)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005506	iron ion binding	molecular function	IEA	26
GO:0005654	nucleoplasm	cellular component	TAS	210
GO:0005634	nucleus	cellular component	IDA[12615973]	877
GO:0018126	protein hydroxylation	biological process	IDA[19584355]	1
GO:0031418	L-ascorbic acid binding	molecular function	IEA	3
GO:0005737	cytoplasm	cellular component	IDA[12615973]	781
GO:0033554	cellular response to stress	biological process	TAS	14
GO:0043523	regulation of neuron apoptotic process	biological process	ISS	4
GO:0042127	regulation of cell proliferation	biological process	IEP	22
GO:0005829	cytosol	cellular component	TAS	485
GO:0005515	protein binding	molecular function	IPI	1015
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IEP	15
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	biological process	IDA[11598268]	1
GO:0006915	apoptotic process	biological process	IEP	127
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	biological process	TAS	7
GO:0031545	peptidyl-proline 4-dioxygenase activity	molecular function	IDA[11598268]	1
GO:0001666	response to hypoxia	biological process	IEP	41
GO:0006974	response to DNA damage stimulus	biological process	IEA	41
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	molecular function	IEA	12
GO:0071456	cellular response to hypoxia	biological process	TAS	14

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05211	Renal cell carcinoma	15

Genes shared at least 5 GO terms with EGLN3 (count: 60)

Gene Symbol	Pathway Count	Pathway List
CREBBP	8	nucleoplasm; nucleus; cytoplasm; cellular response to stress; protein binding; regulation of transcription from RNA polymerase II promoter in response to hypoxia; response to hypoxia; cellular response to hypoxia;
BNIP3	7	nucleoplasm; nucleus; cytoplasm; protein binding; apoptotic process; response to hypoxia; cellular response to hypoxia;
MAPK1	7	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding; apoptotic process; response to DNA damage stimulus;
UBC	7	nucleoplasm; cellular response to stress; cytosol; protein binding; apoptotic process; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
UBB	7	nucleoplasm; cellular response to stress; cytosol; protein binding; apoptotic process; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
PMAIP1	7	nucleus; cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; response to DNA damage stimulus; cellular response to hypoxia;
MAPK3	6	nucleoplasm; nucleus; cytosol; protein binding; apoptotic process; response to DNA damage stimulus;
TCEB2	6	nucleoplasm; cellular response to stress; cytosol; protein binding; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
TCEB1	6	nucleoplasm; cellular response to stress; cytosol; protein binding; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
YAP1	6	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding; response to DNA damage stimulus;
PSMC3	6	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
IRF7	6	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding; response to DNA damage stimulus;
MEN1	6	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding; response to DNA damage stimulus;
CHEK1	6	nucleoplasm; nucleus; regulation of cell proliferation; cytosol; protein binding; response to DNA damage stimulus;
NR4A2	6	nucleoplasm; nucleus; cytoplasm; cellular response to stress; protein binding; response to hypoxia;
RPS3	6	nucleus; cytoplasm; cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to DNA damage stimulus;
APC	6	nucleus; cytoplasm; cytosol; protein binding; apoptotic process; response to DNA damage stimulus;
PAK1	6	cytoplasm; cellular response to stress; cytosol; protein binding; apoptotic process; response to hypoxia;
VEGFA	6	cytoplasm; cellular response to stress; protein binding; regulation of transcription from RNA polymerase II promoter in response to hypoxia; response to hypoxia; cellular response to hypoxia;
NOS1	5	iron ion binding; cytoplasm; cytosol; protein binding; response to hypoxia;
CYCS	5	iron ion binding; nucleus; cytosol; protein binding; apoptotic process;
RAD9A	5	nucleoplasm; nucleus; cytoplasm; protein binding; response to DNA damage stimulus;
RBM4	5	nucleoplasm; nucleus; cytoplasm; cellular response to stress; protein binding;
FANCA	5	nucleoplasm; nucleus; cytoplasm; regulation of cell proliferation; protein binding;
TP53BP1	5	nucleoplasm; nucleus; cytoplasm; protein binding; response to DNA damage stimulus;
TRIP12	5	nucleoplasm; nucleus; cytoplasm; protein binding; response to DNA damage stimulus;
RNPS1	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
SART1	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
MAPK7	5	nucleoplasm; nucleus; cytosol; protein binding; apoptotic process;
NEDD4L	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
RELA	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
NUMA1	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
FANCC	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
GATA6	5	nucleoplasm; nucleus; protein binding; apoptotic process; cellular response to hypoxia;
IRF9	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
CCND1	5	nucleoplasm; nucleus; cytosol; protein binding; response to DNA damage stimulus;
GEMIN2	5	nucleoplasm; nucleus; cytoplasm; cytosol; protein binding;
SNCA	5	nucleus; cytoplasm; cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process;
PYCARD	5	nucleus; cytoplasm; cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process;
GZMB	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
TJP1	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
TH	5	nucleus; cytoplasm; cytosol; protein binding; response to hypoxia;
BIRC2	5	nucleus; regulation of cell proliferation; cytosol; protein binding; apoptotic process;
DNAJA3	5	nucleus; cytoplasm; cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process;
PRKAA1	5	nucleus; cytosol; protein binding; response to hypoxia; cellular response to hypoxia;
APBB1	5	nucleus; cytoplasm; protein binding; apoptotic process; response to DNA damage stimulus;
DAXX	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
WWOX	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
PRKD1	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
CRYAB	5	nucleus; cytoplasm; cytosol; protein binding; response to hypoxia;
BRE	5	nucleus; cytoplasm; protein binding; apoptotic process; response to DNA damage stimulus;
TSC2	5	nucleus; cytoplasm; cytosol; protein binding; response to hypoxia;
AXIN1	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
PDCD6	5	nucleus; cytoplasm; cellular response to stress; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process;
STK11	5	nucleus; cytoplasm; cytosol; protein binding; response to DNA damage stimulus;
ALKBH8	5	nucleus; cytoplasm; cytosol; protein binding; response to DNA damage stimulus;
PDCD4	5	nucleus; cytoplasm; cytosol; protein binding; apoptotic process;
AATF	5	nucleus; cytoplasm; protein binding; apoptotic process; response to DNA damage stimulus;
CASP1	5	cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; response to hypoxia;
BAD	5	cytosol; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; cellular response to hypoxia;

Genes shared at least 2 KEGG pathways with EGLN3 (count: 0)

View in gBrowse

Region: chr14:34393437..34931980 View in gBrowse