RDH12 - retinol dehydrogenase 12-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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145226 RDH12

基因描述

Type	Description
Definition	retinol dehydrogenase 12

研究结论

Date	Results	Publications
2020-11-21 13:19:00	PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.	30134391
2020-05-30 12:20:00	This study includes the largest collection of phenotypic data from children with RDH12-associated early-onset severe retinal dystrophy (EOSRD) and provides a comprehensive description of the timeline of vision loss in this severe, early-onset condition.	30979730
2020-02-08 11:37:00	study of genotype-phenotype correlations in RDH12-associated retinal degeneration [review]	31884613
2019-05-11 12:15:00	RDH12-IRD causes an early-onset, retina-wide disease with particularly severe central retinal abnormalities associated with relatively less severe rod photoreceptor dysfunction, a pattern consistent with an early-onset cone-rod dystrophy.	30372751
2018-03-03 10:19:00	The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA.	28471114

名称对应

Type	IDs
Synonymous	LCA13, RP53, SDR7C2
Gene	UniProtKB-ID: RDH12_HUMAN, A0A0S2Z613_HUMAN UniprotKB: Q96NR8, A0A0S2Z613 UniParc: UPI0000071827 EMBL: BC025724, AK315462, AK054835, CH471061, KU178865, AL049779 Ensembl: ENSG00000139988 KO: hsa:145226
Nucleutide sequences	EMBL-CDS: EAW80951.1, AAH25724.1, BAB70811.1, BAG37849.1, ALQ34323.1 Ensembl_TRS: ENST00000267502, ENST00000551171
Protein sequencees	Ensembl_PRO: ENSP00000449079, ENSP00000267502 RefSeq: NP_689656.2
Others	UniRef100: UniRef100_Q96NR8 UniRef90: UniRef90_Q96NR8 UniRef50: UniRef50_Q96NR8 UniGene: Hs.415322 CCDS: CCDS9787.1

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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
32296183	A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G CotÃ© , Meaghan Daley , Steven Deimling , Alice Desbuleux , AmÃ©lie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , IstvÃ¡n A KovÃ¡cs , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood	2020-04-01	-
30979730	Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. Br J Ophthalmol Abigail T Fahim , Zaina Bouzia , Kari H Branham , Neruban Kumaran , Mauricio E Vargas , Kecia L Feathers , N Dayanthi Perera , Kelly Young , Naheed W Khan , John R Heckenlively , Andrew R Webster , Mark E Pennesi , Robin R Ali , Debra A Thompson , Michel Michaelides	2019-12-01	-
30134391	PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina Xuan Zou , Qing Fu , Sha Fang , Hui Li , Zhongqi Ge , Lizhu Yang , Mingchu Xu , Zixi Sun , Huajin Li , Yumei Li , Fangtian Dong , Rui Chen , Ruifang Sui	2019-10-01	-
31884613	Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration. Adv Exp Med Biol Abigail T Fahim , Debra A Thompson	2019-01-01	-
30372751	RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. Invest. Ophthalmol. Vis. Sci. Tomas S Aleman , Katherine E Uyhazi , Leona W Serrano , Vidyullatha Vasireddy , Scott J Bowman , Michael J Ammar , Denise J Pearson , Albert M Maguire , Jean Bennett	2018-10-01	-
28513254	Peripapillary sparing in RDH12-associated Leber congenital amaurosis. Ophthalmic Genet. Aakriti Garg , Winston Lee , Jesse D Sengillo , Rando Allikmets , Kartik Garg , Stephen H Tsang	2017-12-01	-
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	-
28471114	Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. J Zhejiang Univ Sci B Yun Li , Qing Pan , Yang-Shun Gu	2017-05-01	-
26848971	Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing. Ophthalmic Genet. Wei Xin , Xueshan Xiao , Shiqiang Li , Qingjiong Zhang	2016-09-01	-
26871637	Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell Xinping Yang , Jasmin Coulombe-Huntington , Shuli Kang , Gloria M Sheynkman , Tong Hao , Aaron Richardson , Song Sun , Fan Yang , Yun A Shen , Ryan R Murray , Kerstin Spirohn , Bridget E Begg , Miquel Duran-Frigola , Andrew MacWilliams , Samuel J Pevzner , Quan Zhong , Shelly A Trigg , Stanley Tam , Lila Ghamsari , Nidhi Sahni , Song Yi , Maria D Rodriguez , Dawit Balcha , Guihong Tan , Michael Costanzo , Brenda Andrews , Charles Boone , Xianghong J Zhou , Kourosh Salehi-Ashtiani , Benoit Charloteaux , Alyce A Chen , Michael A Calderwood , Patrick Aloy , Frederick P Roth , David E Hill , Lilia M Iakoucheva , Yu Xia , Marc Vidal	2016-02-11	USH1C, PQBP1, OPTN, RBM5, CDK5, CDK7, RABEPK, SRRM1, NOD1, CD2BP2, RBM14, HAX1, SLC30A9, STK25, SEMA4F, SLC19A2, CETP, SRSF10, SEPT9, ALDH1L1, RCC1, LDB3, AKAP10, SEC63, PHF21B, HELQ, CKB, ERCC8, CLCN2, ZFYVE27, CLPTM1, TTC8, C15orf40, COL1A2, BBS5, ACMSD, DNAJC19, CPA2, C7orf34, CRH, CRK, RDH12, MIPOL1, ZNF688, SLC25A10, NKX2-5, CTNS, CTSD, UPP2, CYBB, CYP11A1, TSTD2, DAO, REM2, DYX1C1, DCN, DDC, GLIS3, DGUOK, DHCR7, DMD, E2F6, TYMP, EGR2, FLCN, EPHX1, EYA4, ETFA, ETV6, FANCC, FANCG, EFEMP1, MICU2, ZUFSP, FCGR3A, ABCB7, FGA, FGFR1, FH, DOLK, KIAA0907, ARHGEF15, SETX, ARHGAP26, SPG20, FMO3, ETHE1, SLC39A14, CDK20, SMUG1, FXN, FTSJ1, MCM9, GABRA2, GAD1, SUMF2, GALT, UNC50, FBXO8

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