ADHDgene Database

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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 nine homolog 3 (C. elegans)
Previous Name	EGL nine (C.elegans) homolog 3
Name Alias	HIF prolyl hydroxylase 3
Location	14q12
Position	chr14:34393421-34638972, -
External Links	HGNC: 14661 Entrez Gene: 112399 Ensembl: ENSG00000129521 UCSC: uc001wsa.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; 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)
rs11625217	Chr14:34728231(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs4624074	Chr14:34744426(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs12432593	Chr14:34731592(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
rs12432591	Chr14:34731377(Fwd)	intron_variant; nc_transcript_variant
rs11625107	Chr14:34728127(Fwd)	intron_variant; nc_transcript_variant
rs11847700	Chr14:34745812(Fwd)	intron_variant; nc_transcript_variant
rs2210068	Chr14:34738571(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:0031418	L-ascorbic acid binding	Molecular Function		3
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	Biological Process	IDA[11598268]	1
GO:0018126	protein hydroxylation	Biological Process	IDA[19584355]	1
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	Molecular Function		11
GO:0043523	regulation of neuron apoptotic process	Biological Process		3
GO:0042127	regulation of cell proliferation	Biological Process		20
GO:0033554	cellular response to stress	Biological Process		12
GO:0031545	peptidyl-proline 4-dioxygenase activity	Molecular Function	IDA[11598268]	1
GO:0005737	cytoplasm	Cellular Component	IDA[12615973]	690
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005634	nucleus	Cellular Component	IDA[12615973]	770
GO:0005515	protein binding	Molecular Function		910
GO:0006974	response to DNA damage stimulus	Biological Process		37
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	Biological Process		11
GO:0006915	apoptotic process	Biological Process		111
GO:0005829	cytosol	Cellular Component		447
GO:0001666	response to hypoxia	Biological Process		34
GO:0005506	iron ion binding	Molecular Function		20
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	Biological Process		5
GO:0071456	cellular response to hypoxia	Biological Process		12

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05211	Renal cell carcinoma	13	Renal cell cancer (RCC) accounts for ~3% of human malignanci...... Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC. More...
hsa05200	Pathways in cancer	52

Genes shared at least 5 GO terms with EGLN3 (count: 52)

Gene Symbol	Pathway Count	Pathway List
UBB	7	cellular response to stress; nucleoplasm; protein binding; apoptotic process; cytosol; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
UBC	7	cellular response to stress; nucleoplasm; protein binding; apoptotic process; cytosol; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
BNIP3	7	cytoplasm; nucleoplasm; nucleus; protein binding; apoptotic process; response to hypoxia; cellular response to hypoxia;
MAPK1	7	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; apoptotic process; cytosol;
PMAIP1	7	nucleus; protein binding; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; cytosol; cellular response to hypoxia;
CHEK1	6	regulation of cell proliferation; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; cytosol;
NR4A2	6	cellular response to stress; cytoplasm; nucleoplasm; nucleus; protein binding; response to hypoxia;
PAK1	6	cellular response to stress; cytoplasm; protein binding; apoptotic process; cytosol; response to hypoxia;
TCEB1	6	cellular response to stress; nucleoplasm; protein binding; cytosol; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
VEGFA	6	cellular response to stress; cytoplasm; protein binding; response to hypoxia; regulation of transcription from RNA polymerase II promoter in response to hypoxia; cellular response to hypoxia;
APC	6	cytoplasm; nucleus; protein binding; response to DNA damage stimulus; apoptotic process; cytosol;
IRF7	6	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; cytosol;
MEN1	6	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; cytosol;
PSMC3	6	cytoplasm; nucleoplasm; nucleus; protein binding; apoptotic process; cytosol;
RPS3	6	cytoplasm; nucleus; protein binding; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytosol;
YAP1	6	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; cytosol;
MAPK3	6	nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; apoptotic process; cytosol;
BIRC2	5	regulation of cell proliferation; nucleus; protein binding; apoptotic process; cytosol;
FANCA	5	regulation of cell proliferation; cytoplasm; nucleoplasm; nucleus; protein binding;
RBM4	5	cellular response to stress; cytoplasm; nucleoplasm; nucleus; protein binding;
AATF	5	cytoplasm; nucleus; protein binding; response to DNA damage stimulus; apoptotic process;
ALKBH8	5	cytoplasm; nucleus; protein binding; response to DNA damage stimulus; cytosol;
APBB1	5	cytoplasm; nucleus; protein binding; response to DNA damage stimulus; apoptotic process;
CRYAB	5	cytoplasm; nucleus; protein binding; cytosol; response to hypoxia;
DAXX	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
FANCC	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
GZMB	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
IRF9	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
NEDD4L	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
NOS1	5	cytoplasm; protein binding; cytosol; response to hypoxia; iron ion binding;
NUMA1	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
PDCD4	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
PRKCB	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
PRKD1	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
PYCARD	5	cytoplasm; nucleus; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytosol;
RAD9A	5	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
RELA	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
RFWD2	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
SART1	5	cytoplasm; nucleoplasm; nucleus; protein binding; cytosol;
SNCA	5	cytoplasm; nucleus; protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytosol;
TH	5	cytoplasm; nucleus; protein binding; cytosol; response to hypoxia;
TJP1	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
TP53BP1	5	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
TRIP12	5	cytoplasm; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
WWOX	5	cytoplasm; nucleus; protein binding; apoptotic process; cytosol;
CCND1	5	nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; cytosol;
GATA6	5	nucleoplasm; nucleus; protein binding; apoptotic process; cellular response to hypoxia;
MAPK7	5	nucleoplasm; nucleus; protein binding; apoptotic process; cytosol;
CYCS	5	nucleus; protein binding; apoptotic process; cytosol; iron ion binding;
PRKAA1	5	nucleus; protein binding; cytosol; response to hypoxia; cellular response to hypoxia;
BAD	5	protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; cytosol; cellular response to hypoxia;
CASP1	5	protein binding; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; cytosol; response to hypoxia;

Genes shared at least 2 KEGG pathways with EGLN3 (count: 9)

Gene Symbol	Pathway Count	Pathway List
CRKL	2	Renal cell carcinoma; Pathways in cancer;
ETS1	2	Renal cell carcinoma; Pathways in cancer;
MAPK1	2	Renal cell carcinoma; Pathways in cancer;
MAPK3	2	Renal cell carcinoma; Pathways in cancer;
PIK3CG	2	Renal cell carcinoma; Pathways in cancer;
PIK3R1	2	Renal cell carcinoma; Pathways in cancer;
TCEB1	2	Renal cell carcinoma; Pathways in cancer;
VEGFA	2	Renal cell carcinoma; Pathways in cancer;
VEGFB	2	Renal cell carcinoma; Pathways in cancer;

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Region: chr14:34393421..34638972 View in gBrowse