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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 17alpha-ethynylestradiol | increases expression | ISO | RGD:1306416 | 6480464 | Ethinyl Estradiol results in increased expression of EPN3 mRNA | CTD | PMID:17557909 | 17beta-estradiol | multiple interactions | EXP | | 6480464 | [Estradiol co-treated with TGFB1 protein] results in decreased expression of EPN3 mRNA | CTD | PMID:30165855 | 2,3,7,8-tetrachlorodibenzodioxine | decreases expression | EXP | | 6480464 | Tetrachlorodibenzodioxin results in decreased expression of EPN3 mRNA | CTD | PMID:21632981 | 2,3,7,8-tetrachlorodibenzodioxine | increases expression | EXP | | 6480464 | Tetrachlorodibenzodioxin results in increased expression of EPN3 mRNA | CTD | PMID:23152189 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:1315017 | 6480464 | Tetrachlorodibenzodioxin affects the expression of EPN3 mRNA | CTD | PMID:21570461 | 2-hydroxypropanoic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of EPN3 mRNA | CTD | PMID:30851411 | 4,4'-sulfonyldiphenol | increases expression | ISO | RGD:1315017 | 6480464 | bis(4-hydroxyphenyl)sulfone results in increased expression of EPN3 mRNA | CTD | PMID:30951980 | 6-propyl-2-thiouracil | decreases expression | ISO | RGD:1306416 | 6480464 | Propylthiouracil results in decreased expression of EPN3 mRNA | CTD | PMID:24780913, PMID:25825206 | aflatoxin B1 | increases expression | EXP | | 6480464 | Aflatoxin B1 results in increased expression of EPN3 mRNA | CTD | PMID:21641981 | benzo[a]pyrene | decreases expression | ISO | RGD:1306416 | 6480464 | Benzo(a)pyrene results in decreased expression of EPN3 mRNA | CTD | PMID:21839799 | benzo[a]pyrene | increases expression | ISO | RGD:1315017 | 6480464 | Benzo(a)pyrene results in increased expression of EPN3 mRNA | CTD | PMID:27195522 | benzo[a]pyrene | increases expression | EXP | | 6480464 | Benzo(a)pyrene results in increased expression of EPN3 mRNA | CTD | PMID:21632981 | benzo[a]pyrene | decreases expression | ISO | RGD:1315017 | 6480464 | Benzo(a)pyrene results in decreased expression of EPN3 mRNA | CTD | PMID:22228805 | bis(2-ethylhexyl) phthalate | increases expression | EXP | | 6480464 | Diethylhexyl Phthalate results in increased expression of EPN3 mRNA | CTD | PMID:31163220 | bisphenol A | decreases expression | ISO | RGD:1306416 | 6480464 | bisphenol A results in decreased expression of EPN3 mRNA | CTD | PMID:25181051 | bisphenol F | increases expression | ISO | RGD:1315017 | 6480464 | bisphenol F results in increased expression of EPN3 mRNA | CTD | PMID:30951980 | carbamazepine | affects expression | EXP | | 6480464 | Carbamazepine affects the expression of EPN3 mRNA | CTD | PMID:24752500, PMID:25979313 | cisplatin | multiple interactions | EXP | | 6480464 | [Cisplatin co-treated with jinfukang] results in increased expression of EPN3 mRNA | CTD | PMID:27392435 | cisplatin | increases expression | EXP | | 6480464 | Cisplatin results in increased expression of EPN3 mRNA | CTD | PMID:27392435 | copper(II) sulfate | decreases expression | EXP | | 6480464 | Copper Sulfate results in decreased expression of EPN3 mRNA | CTD | PMID:19549813 | diclofenac | affects expression | EXP | | 6480464 | Diclofenac affects the expression of EPN3 mRNA | CTD | PMID:24752500 | dorsomorphin | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ... | CTD | PMID:27188386 | endosulfan | decreases expression | ISO | RGD:1306416 | 6480464 | Endosulfan results in decreased expression of EPN3 mRNA | CTD | PMID:29391264 | furan | increases expression | ISO | RGD:1306416 | 6480464 | furan results in increased expression of EPN3 mRNA | CTD | PMID:27387713 | glycidol | increases expression | ISO | RGD:1306416 | 6480464 | glycidol results in increased expression of EPN3 mRNA | CTD | PMID:24395379 | hexane | decreases methylation | ISO | RGD:1306416 | 6480464 | n-hexane results in decreased methylation of EPN3 promoter | CTD | PMID:23740543 | hydrogen peroxide | affects expression | EXP | | 6480464 | Hydrogen Peroxide affects the expression of EPN3 mRNA | CTD | PMID:20044591 | menadione | affects expression | EXP | | 6480464 | Vitamin K 3 affects the expression of EPN3 mRNA | CTD | PMID:20044591 | mercury dibromide | increases expression | EXP | | 6480464 | mercuric bromide results in increased expression of EPN3 mRNA | CTD | PMID:26272509 | mercury dibromide | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EPN3 mRNA | CTD | PMID:27188386 | oxaliplatin | increases expression | EXP | | 6480464 | oxaliplatin results in increased expression of EPN3 mRNA | CTD | PMID:16510598 | panobinostat | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EPN3 mRNA | CTD | PMID:27188386 | paracetamol | affects expression | ISO | RGD:1315017 | 6480464 | Acetaminophen affects the expression of EPN3 mRNA | CTD | PMID:17562736 | phenethyl isothiocyanate | increases expression | ISO | RGD:1306416 | 6480464 | phenethyl isothiocyanate results in increased expression of EPN3 mRNA | CTD | PMID:17616710 | phenylmercury acetate | increases expression | EXP | | 6480464 | Phenylmercuric Acetate results in increased expression of EPN3 mRNA | CTD | PMID:26272509 | phenylmercury acetate | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EPN3 mRNA | CTD | PMID:27188386 | propanal | increases expression | EXP | | 6480464 | propionaldehyde results in increased expression of EPN3 mRNA | CTD | PMID:26079696 | quercetin | increases expression | EXP | | 6480464 | Quercetin results in increased expression of EPN3 mRNA | CTD | PMID:21632981 | rac-lactic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of EPN3 mRNA | CTD | PMID:30851411 | SB 431542 | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ... | CTD | PMID:27188386 | silicon dioxide | affects expression | EXP | | 6480464 | Silicon Dioxide analog affects the expression of EPN3 mRNA | CTD | PMID:25895662 | Tesaglitazar | increases expression | ISO | RGD:1306416 | 6480464 | tesaglitazar results in increased expression of EPN3 mRNA | CTD | PMID:21515302 | trichostatin A | increases expression | EXP | | 6480464 | trichostatin A results in increased expression of EPN3 mRNA | CTD | PMID:24935251 | troglitazone | increases expression | ISO | RGD:1306416 | 6480464 | troglitazone results in increased expression of EPN3 mRNA | CTD | PMID:21515302 | urethane | decreases expression | EXP | | 6480464 | Urethane results in decreased expression of EPN3 mRNA | CTD | PMID:28818685 | valproic acid | affects expression | ISO | RGD:1315017 | 6480464 | Valproic Acid affects the expression of EPN3 mRNA | CTD | PMID:17292431 | valproic acid | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EPN3 mRNA | CTD | PMID:27188386 | valproic acid | increases expression | EXP | | 6480464 | Valproic Acid results in increased expression of EPN3 mRNA | CTD | PMID:23179753 more ... | valproic acid | affects expression | EXP | | 6480464 | Valproic Acid affects the expression of EPN3 mRNA | CTD | PMID:25979313 | vinclozolin | decreases expression | ISO | RGD:1306416 | 6480464 | vinclozolin results in decreased expression of EPN3 mRNA | CTD | PMID:23034163 | zearalenone | decreases expression | EXP | | 6480464 | Zearalenone results in decreased expression of EPN3 mRNA | CTD | PMID:19371625 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | Pipeline to import KEGG annotations from KEGG into RGD |
3. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 8889548 10951261 11359770 12477932 14702039 15231748 15489334 16344560 19056867 20709745 21115825 25468996 26186194 27926932 28514442 29509190 30226603 30639242 |
EPN3 (Homo sapiens - human) |
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Epn3 (Mus musculus - house mouse) |
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Epn3 (Rattus norvegicus - Norway rat) |
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Epn3 (Chinchilla lanigera - long-tailed chinchilla) |
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EPN3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EPN3 (Canis lupus familiaris - dog) |
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Epn3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EPN3 (Sus scrofa - pig) |
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RH103878 |
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SHGC-104919 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_017957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC021491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF324241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK000785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC051365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC077722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110605 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM981734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU539570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA944655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA392550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC388544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_017957 ⟹ NP_060427 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
CTGTTACTGCTGAGGCAGACCTGCCGGGCCAGCTGAGCAACTTTCCTCGGAGTGCTGCCTGGCGhide sequence |
Protein RefSeqs | NP_060427 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAG45223 | (Get FASTA) | NCBI Sequence Viewer |
AAI10603 | (Get FASTA) | NCBI Sequence Viewer | |
AAI10606 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91378 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84347 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85666 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58571 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59030 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62331 | (Get FASTA) | NCBI Sequence Viewer | |
EAW94606 | (Get FASTA) | NCBI Sequence Viewer | |
EAW94607 | (Get FASTA) | NCBI Sequence Viewer | |
Q9H201 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_060427 ⟸ NM_017957 |
- UniProtKB: | Q9H201 (UniProtKB/Swiss-Prot) |
- Sequence: |
MTTSALRRQVKNIVHNYSEAEIKVREATSNDPWGPPSSLMSEIADLTFNTVAFTEVMGMLWRRLhide sequence |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 | copy number gain | Hydrocephalus [RCV000050957]|See cases [RCV000050957] | Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 | copy number loss | Nonsyndromic microcephaly [RCV000053432]|See cases [RCV000053432] | Chr17:49137864..52147810 [GRCh38] Chr17:47215226..50225170 [GRCh37] Chr17:44570225..47580169 [NCBI36] Chr17:17q21.32-22 |
pathogenic |
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053433]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053433]|See cases [RCV000053433] | Chr17:49974533..56807609 [GRCh38] Chr17:48051897..54884970 [GRCh37] Chr17:45406896..52239969 [NCBI36] Chr17:17q21.33-22 |
pathogenic |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 | copy number gain | See cases [RCV000137437] | Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 | copy number gain | See cases [RCV000447823] | Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 | copy number loss | not provided [RCV000513510] | Chr17:46481089..51396368 [GRCh37] Chr17:17q21.32-22 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:18235 | AgrOrtholog |
COSMIC | EPN3 | COSMIC |
Ensembl Genes | ENSG00000049283 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000268933 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000421515 | UniProtKB/TrEMBL | |
ENSP00000421933 | UniProtKB/Swiss-Prot | |
ENSP00000421936 | UniProtKB/TrEMBL | |
ENSP00000422201 | UniProtKB/TrEMBL | |
ENSP00000422601 | UniProtKB/TrEMBL | |
ENSP00000422682 | UniProtKB/TrEMBL | |
ENSP00000424306 | UniProtKB/TrEMBL | |
ENSP00000426676 | UniProtKB/TrEMBL | |
ENSP00000426762 | UniProtKB/TrEMBL | |
ENSP00000439512 | UniProtKB/TrEMBL | |
ENSP00000460911 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000268933 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000503246 | UniProtKB/TrEMBL | |
ENST00000503690 | UniProtKB/TrEMBL | |
ENST00000507467 | UniProtKB/TrEMBL | |
ENST00000507709 | UniProtKB/TrEMBL | |
ENST00000510045 | UniProtKB/Swiss-Prot | |
ENST00000512291 | UniProtKB/TrEMBL | |
ENST00000512379 | UniProtKB/TrEMBL | |
ENST00000514874 | UniProtKB/TrEMBL | |
ENST00000515126 | UniProtKB/TrEMBL | |
ENST00000537145 | UniProtKB/TrEMBL | |
ENST00000574464 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.90 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000049283 | GTEx |
HGNC ID | HGNC:18235 | ENTREZGENE |
Human Proteome Map | EPN3 | Human Proteome Map |
InterPro | ENTH | UniProtKB/Swiss-Prot |
ENTH_VHS | UniProtKB/Swiss-Prot | |
Epsin-3_metazoa | UniProtKB/Swiss-Prot | |
UIM_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:55040 | UniProtKB/Swiss-Prot |
NCBI Gene | 55040 | ENTREZGENE |
OMIM | 607264 | OMIM |
PANTHER | PTHR12276:SF16 | UniProtKB/Swiss-Prot |
Pfam | ENTH | UniProtKB/Swiss-Prot |
UIM | UniProtKB/Swiss-Prot | |
PharmGKB | PA38513 | PharmGKB |
PROSITE | ENTH | UniProtKB/Swiss-Prot |
UIM | UniProtKB/Swiss-Prot | |
SMART | ENTH | UniProtKB/Swiss-Prot |
UIM | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF48464 | UniProtKB/Swiss-Prot |
UniGene | Hs.670090 | ENTREZGENE |
UniProt | A4QMU9_HUMAN | UniProtKB/TrEMBL |
D6R907_HUMAN | UniProtKB/TrEMBL | |
D6RBA4_HUMAN | UniProtKB/TrEMBL | |
D6RBI9_HUMAN | UniProtKB/TrEMBL | |
D6RBR6_HUMAN | UniProtKB/TrEMBL | |
D6REL6_HUMAN | UniProtKB/TrEMBL | |
D6RF39_HUMAN | UniProtKB/TrEMBL | |
D6RFG3_HUMAN | UniProtKB/TrEMBL | |
EPN3_HUMAN | UniProtKB/Swiss-Prot | |
I6L9I8_HUMAN | UniProtKB/TrEMBL | |
Q9H201 | ENTREZGENE | |
UniProt Secondary | A8K6J3 | UniProtKB/Swiss-Prot |
A8KAB2 | UniProtKB/Swiss-Prot | |
F6QWW5 | UniProtKB/TrEMBL | |
Q9BVN6 | UniProtKB/Swiss-Prot | |
Q9NWK2 | UniProtKB/Swiss-Prot |
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More on EPN3 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1315016 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.