P3H2 - prolyl 3-hydroxylase 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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55214 P3H2

基因描述

Type	Description
Definition	prolyl 3-hydroxylase 2

研究结论

Date	Results	Publications
2020-04-04 12:20:00	Mutation in the LEPREL1 gene is associated with ectopia lentis.	30608193
2018-12-22 10:47:00	Data identified an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk.	29956121
2015-08-08 10:55:00	Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation.	25469533
2015-07-25 11:45:00	LEPREL1 plays an important role in eye development and homozygous loss-of-function mutation of this gene can cause severely high myopia and early-onset cataract.	24172257
2015-03-07 10:40:00	mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.	25525168

名称对应

Type	IDs
Synonymous	LEPREL1, MCVD, MLAT4
Gene	UniProtKB-ID: P3H2_HUMAN UniprotKB: Q8IVL5 UniParc: UPI0000071927, UPI000007460B EMBL: AK056447, AK125134, AC063939, BC005029, CH471052, AC099660, AK001580, AJ430351, AC016966 Ensembl: ENSG00000090530 KO: hsa:55214
Nucleutide sequences	EMBL-CDS: BAG54151.1, AAH05029.1, EAW78111.1, BAG51712.1, BAA91769.1, EAW78110.1, CAD23039.2, EAW78109.1 Ensembl_TRS: ENST00000319332, ENST00000427335
Protein sequencees	Ensembl_PRO: ENSP00000316881, ENSP00000408947 RefSeq: NP_060662.2, NP_001127890.1, XP_011511257.1
Others	UniRef100: UniRef100_Q8IVL5 UniRef90: UniRef90_Q8IVL5 UniRef50: UniRef50_Q8IVL5 UniGene: Hs.374191 CCDS: CCDS3294.1, CCDS46981.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
31536960	Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. iScience Mohamed Taha Moutaoufik , Ramy Malty , Shahreen Amin , Qingzhou Zhang , Sadhna Phanse , Alla Gagarinova , Mara Zilocchi , Larissa Hoell , Zoran Minic , Maria Gagarinova , Hiroyuki Aoki , Jocelyn Stockwell , Matthew Jessulat , Florian Goebels , Kirsten Broderick , Nichollas E Scott , James Vlasblom , Gabriel Musso , Bhanu Prasad , Eleonora Lamantea , Barbara Garavaglia , Alex Rajput , Kei Murayama , Yasushi Okazaki , Leonard J Foster , Gary D Bader , Francisco S Cayabyab , Mohan Babu	2019-09-27	-
30608193	Further phenotypic characterization of LEPREL1-related ectopia lentis. Ophthalmic Genet. Arif O Khan	2019-02-01	-
29956121	Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. Cell Oncol (Dordr) Aleksandra M Dudek , Sita H Vermeulen , Dimitar Kolev , Anne J Grotenhuis , Lambertus A L M Kiemeney , Gerald W Verhaegh	2018-10-01	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
26496610	A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , JÃ¼rgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , JÃ¶rg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann	2015-10-22	Cep85l, Rcc1, Zbtb48, Bsdc1, Kifc1, Ccp110, Ints4, Slc6a8, Cenpi, Nup107, Xpo1, Fbxw11, Tubg1, Csnk1d, Bap1, Ptpn23, Tecpr2, Slain1, Ankrd28, Prkaa1, Espl1, Gbf1, Cdc20, Cenpf, Trip11, Mbd5, Kif22, Dut, Srsf1, Actb, Spred2, Akt2, Mta1, Tgs1, Pip4k2c, Ankfy1, Apc, Ar, Rhoa, Atp2a2, Atp5a1, Atp7a, Cep131, Bach1, Bcl7c, Bmpr1a, Brca1, Bub1, Bub1b, C1qbp, Anxa2, Calu, Cbx1, Cbx4, Cct2, Cct3, Cct4, Cct7, Cct8, Cd2ap, Cdk1, Cdc37, Cdh1, Chek1, Cit, Copa, Crebbp, Cry1, Csk, Smc3, Dctn1, Ddb1, Cdk2ap1, Mapre1, Ect2, Eef1a1, Eif3a, Mark2, Evpl, Ewsr1, Wdr5, Dclre1b, Fbl, Fgfr1, Flot1, Flot2, B4galt1, Gnb1, Gspt1, Hdac6, Herc2, Hsf1, Hsph1, Elavl1, Id2, Cyr61, Cep250, Insr, Eif3e
26186194	The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin WÃ¼hr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi	2015-07-16	-
25469533	Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. Ophthalmic Genet. Arif O Khan , Mohammed A Aldahmesh , Hadeel Alsharif , Fowzan S Alkuraya	2015-03-01	-
25525168	Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. Invest. Ophthalmol. Vis. Sci. Dan Jiang , Jiali Li , Xueshan Xiao , Shiqiang Li , Xiaoyun Jia , Wenmin Sun , Xiangming Guo , Qingjiong Zhang	2014-12-18	-
24172257	Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. Clin. Genet. H Guo , P Tong , Y Peng , T Wang , Y Liu , J Chen , Y Li , Q Tian , Y Hu , Y Zheng , L Xiao , W Xiong , Q Pan , Z Hu , K Xia	2014-12-01	-
21885030	High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. Am. J. Hum. Genet. Shikma Mordechai , Libe Gradstein , Annika Pasanen , Rivka Ofir , Khalil El Amour , Jaime Levy , Nadav Belfair , Tova Lifshitz , Sara Joshua , Ginat Narkis , Khalil Elbedour , Johanna Myllyharju , Ohad S Birk	2011-09-09	-

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