2024-11-22 06:17:36, GGRNA.v2 : RefSeq release 226 (Sep, 2024)
LOCUS NM_001414023 2179 bp mRNA linear PRI 14-JUN-2024 DEFINITION Homo sapiens epoxide hydrolase 2 (EPHX2), transcript variant 12, mRNA. ACCESSION NM_001414023 VERSION NM_001414023.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2179) AUTHORS Pu,Y., Cheng,R., Zhang,Q., Huang,T., Lu,C., Tang,Z., Zhong,Y., Wu,L., Hammock,B.D., Hashimoto,K., Luo,Y. and Liu,Y. TITLE Role of soluble epoxide hydrolase in the abnormal activation of fibroblast-like synoviocytes from patients with rheumatoid arthritis JOURNAL Clin Immunol 257, 109850 (2023) PUBMED 38013165 REMARK GeneRIF: Role of soluble epoxide hydrolase in the abnormal activation of fibroblast-like synoviocytes from patients with rheumatoid arthritis. REFERENCE 2 (bases 1 to 2179) AUTHORS Gao,L., Chen,W., Li,L., Li,J., Kongling,W., Zhang,Y., Yang,X., Zhao,Y., Bai,J. and Wang,F. TITLE Targeting soluble epoxide hydrolase promotes osteogenic-angiogenic coupling via activating SLIT3/HIF-1alpha signalling pathway JOURNAL Cell Prolif 56 (7), e13403 (2023) PUBMED 36636821 REMARK GeneRIF: Targeting soluble epoxide hydrolase promotes osteogenic-angiogenic coupling via activating SLIT3/HIF-1alpha signalling pathway. REFERENCE 3 (bases 1 to 2179) AUTHORS Padhy,B., Kapuganti,R.S., Hayat,B., Mohanty,P.P. and Alone,D.P. TITLE Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene expression JOURNAL Gene 854, 147096 (2023) PUBMED 36470481 REMARK GeneRIF: Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene expression. REFERENCE 4 (bases 1 to 2179) AUTHORS Sato,K., Emi,M., Ezura,Y., Fujita,Y., Takada,D., Ishigami,T., Umemura,S., Xin,Y., Wu,L.L., Larrinaga-Shum,S., Stephenson,S.H., Hunt,S.C. and Hopkins,P.N. TITLE Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred JOURNAL J Hum Genet 49 (1), 29-34 (2004) PUBMED 14673705 REFERENCE 5 (bases 1 to 2179) AUTHORS Sandberg,M. and Meijer,J. TITLE Structural characterization of the human soluble epoxide hydrolase gene (EPHX2) JOURNAL Biochem Biophys Res Commun 221 (2), 333-339 (1996) PUBMED 8619856 REFERENCE 6 (bases 1 to 2179) AUTHORS Larsson,C., White,I., Johansson,C., Stark,A. and Meijer,J. TITLE Localization of the human soluble epoxide hydrolase gene (EPHX2) to chromosomal region 8p21-p12 JOURNAL Hum Genet 95 (3), 356-358 (1995) PUBMED 7868134 REFERENCE 7 (bases 1 to 2179) AUTHORS Beetham,J.K., Tian,T. and Hammock,B.D. TITLE cDNA cloning and expression of a soluble epoxide hydrolase from human liver JOURNAL Arch Biochem Biophys 305 (1), 197-201 (1993) PUBMED 8342951 REFERENCE 8 (bases 1 to 2179) AUTHORS Papadopoulos,D., Grondal,S., Rydstrom,J. and DePierre,J.W. TITLE Levels of cytochrome P-450, steroidogenesis and microsomal and cytosolic epoxide hydrolases in normal human adrenal tissue and corresponding tumors JOURNAL Cancer Biochem Biophys 12 (4), 283-291 (1992) PUBMED 1423213 REFERENCE 9 (bases 1 to 2179) AUTHORS Petruzzelli,S., Franchi,M., Gronchi,L., Janni,A., Oesch,F., Pacifici,G.M. and Giuntini,C. TITLE Cigarette smoke inhibits cytosolic but not microsomal epoxide hydrolase of human lung JOURNAL Hum Exp Toxicol 11 (2), 99-103 (1992) PUBMED 1349227 REFERENCE 10 (bases 1 to 2179) AUTHORS Vesell,E.S. TITLE Genetic factors that regulate cytosolic epoxide hydrolase activity in normal human lymphocytes JOURNAL Ann Genet 34 (3-4), 167-172 (1991) PUBMED 1809223 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF311103.5. Summary: This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR14038194.4220193.1, SRR14038191.274556.1 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-167 AF311103.5 101026-101192 168-252 AF311103.5 110809-110893 253-412 AF311103.5 113487-113646 413-603 AF311103.5 114839-115029 604-2179 AF311103.5 116755-118330 FEATURES Location/Qualifiers source 1..2179 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8p21.2-p21.1" gene 1..2179 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="epoxide hydrolase 2" /db_xref="GeneID:2053" /db_xref="HGNC:HGNC:3402" /db_xref="MIM:132811" exon 1..167 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /inference="alignment:Splign:2.1.0" misc_feature 28..30 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="upstream in-frame stop codon" CDS 67..735 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /EC_number="3.3.2.10" /EC_number="3.1.3.76" /note="isoform 11 is encoded by transcript variant 12; epoxide hydrolase 2, cytosolic; epoxide hydrolase, soluble; epoxide hydratase; epoxide hydrolase 2, cytoplasmic; bifunctional epoxide hydrolase 2" /codon_start=1 /product="bifunctional epoxide hydrolase 2 isoform 11" /protein_id="NP_001400952.1" /db_xref="GeneID:2053" /db_xref="HGNC:HGNC:3402" /db_xref="MIM:132811" /translation="
MTLRAAVFDLDGVLALPAVFGVLGRTEEALALPRGLLNDAFQKGGPEGATTRLMKGEITLSQWIPLMEENCRKCSETAKVCLPKNFSIKEIFDKAISARKINRPMLQAALMLRKKGFTTAILTNTWLDDRAERDGLAQLMCELKMHFDFLIESCQVGMVKPEPQIYKFLLDTLKASPSEVVFLDDIGANLKPARDLGMVTILVQDTDTALKELEKVTGIQVT"
misc_feature 73..708 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="N-terminal lipase phosphatase domain of human soluble epoxide hydrolase, Escherichia coli YihX/HAD4 alpha-D-glucose 1-phosphate phosphatase, and related domains, may be inactive; Region: HAD_sEH-N_like; cd02603" /db_xref="CDD:319790" misc_feature order(91..105,433..438,544..546,616..621,628..633) /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="active site" /db_xref="CDD:319790" misc_feature 193..195 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:19608861; propagated from UniProtKB/Swiss-Prot (P34913.2); acetylation site" misc_feature 529..531 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="homodimer interface [polypeptide binding]; other site" /db_xref="CDD:319790" misc_feature 637..639 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P34914; propagated from UniProtKB/Swiss-Prot (P34913.2); acetylation site" misc_feature 709..711 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P34914; propagated from UniProtKB/Swiss-Prot (P34913.2); acetylation site" exon 168..252 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /inference="alignment:Splign:2.1.0" exon 253..412 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /inference="alignment:Splign:2.1.0" exon 413..603 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /inference="alignment:Splign:2.1.0" exon 604..2179 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /inference="alignment:Splign:2.1.0" regulatory 2139..2144 /regulatory_class="polyA_signal_sequence" /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="hexamer: AATAAA" regulatory 2144..2149 /regulatory_class="polyA_signal_sequence" /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="hexamer: ATTAAA" polyA_site 2156 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" polyA_site 2179 /gene="EPHX2" /gene_synonym="ABHD20; CEH; SEH" /note="major polyA site" ORIGIN
gccctggccttcgcgcatctcccaggttagctgcgtgtccgggtgctaggctgcagacccgccgccatgacgctgcgcgcggccgtcttcgaccttgacggggtgctggcgctgccagcggtgttcggcgtcctcggccgcacggaggaggccctggcgctgcccagaggacttctgaatgatgctttccagaaagggggaccagagggtgccactacccggcttatgaaaggagagatcacactttcccagtggataccactcatggaagaaaactgcaggaagtgctccgagaccgctaaagtctgcctccccaagaatttctccataaaagaaatctttgacaaggcgatttcagccagaaagatcaaccgccccatgctccaggcagctctcatgctcaggaagaaaggattcactactgccatcctcaccaacacctggctggacgaccgtgctgagagagatggcctggcccagctgatgtgtgagctgaagatgcactttgacttcctgatagagtcgtgtcaggtgggaatggtcaaacctgaacctcagatctacaagtttctgctggacaccctgaaggccagccccagtgaggtcgtttttttggatgacatcggggctaatctgaagccagcccgtgacttgggaatggtcaccatcctggtccaggacactgacacggccctgaaagaactggagaaagtgaccggaatccaggtaacttgacttctgagcgagccaagcttcctggactcatctgtggtttctggactcaggagaaaaccacgagcagagaagctgctgtccgtggagtccatgaatgactcctgggcaccgctggttgggagtccatcacccactgtgcagtcagcacgatgtccctaaggagcatcttgcctctttctctgcagtcagtgaacagggagacaagaatttatactagtgttagtgccagggccggggaactggcagcaagagtgggatgttcaaggtcatcctgacctcacttttgagagtaagtatggagaacgtttaccctaaggatcagggcccctacctggcatgtcgagcatgccgctggcactcaggtgcagccctttagttccacccagctcagagggaagcctcttaagaaaagcctgtccgtccctgaggtggttgggacagccatcatgatgtccctggggttgcctggggattagcctgctcctccagttctgaggcacctttcttttttggggttgacctgagatcgctgatctcactgagtccacagccttctgcagaagtgcagcaccctcatcctgtgagcacaggggagaagaggcaggagaaagctggcactcagctgaggctgccacatgtccaaggatgcacagccattgcctcaaagggaagtaggttagtttgctcgggctgccataacaaagtactacaggctgtgtggcttcaacaacagacatgtattttctcactgttctggaggctggaagtccaagatcaaggtgccagcagggttggtttctccagaagcctctctccttggcttgaagacagccactttctccctatttcctcacttggtttttccctgtgtctttctgcttcctaacttcctccttttatgaggatacccgtcagattgcactaggtcccaccctaatgacgtcctttaaccttagttacctctgtaaaggcctaatctccgaatacagtcacattctaaagtattgggggctaaggctgggtgcagtggctcactcctgtaatcacagccctttgggaggccaaggtgggcggatcggttgatgtcaggagttcgagaccaacctggccaacatggctacaaccccgtctctactaaaaatataaaaacttagccaagcatagtggtgggcacctgtaatcccagctgctcgggaagctgaggcacgagaatagcttgaacccaggaggtggaggttgcaatgattcaagatcgtgctactgcatttcaacctggacaacaagagcgagactctgtctccaaaaacaaacaaacaaaaaagtattggcactaagactttaacgtgaattttgagagtgatacagtttagcccatgacaagactgatttttttgtctttagtgaataaattaaaatgtatacccagtgactccataaccttaaa
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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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