SLC12A6 - solute carrier family 12 member 6-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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9990 SLC12A6

基因描述

Type	Description
Definition	solute carrier family 12 member 6

研究结论

Date	Results	Publications
2021-02-06 13:50:00	De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.	31439721
2020-06-20 11:06:00	SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.	31393094
2020-06-13 10:47:00	AS may also occur in the Roma population with a new mutation being found: frameshift mutation c.2604delT in the exon 20 of the SLC12A6 gene. Roma patients with probable AS should be primarily tested for this mutation.	30868738
2019-09-28 11:41:00	we present the first Mexican patients with hereditary motor and sensory neuropathy with agenesis of the corpus callosum and a novel heterozygous frameshift variant, c.2097du p or p.(Trp700Leufs*19) of the SLC12A6 gene	30038111
2018-01-27 10:53:00	Neurodegenerative deficits in hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum are primarily caused by an axonopathy superimposed upon abnormal development, affecting peripheral but also central nervous system axons, all ultimately because of a genetic defect in the axonal cotransporter KCC3.	27230413

名称对应

Type	IDs
Synonymous	ACCPN, KCC3, KCC3A, KCC3B
Gene	UniProtKB-ID: S12A6_HUMAN, A0A024R9K8_HUMAN, Q6NSI7_HUMAN, A0A024R9I5_HUMAN UniprotKB: Q9UHW9, A0A024R9K8, Q6NSI7, A0A024R9I5 UniParc: UPI0000135427, UPI0000F57D8D, UPI00001B5C01, UPI00001B5C00, UPI000002B30D, UPI00020F7A66, UPI0000661C18 EMBL: BC070107, AF314955, AK315283, AL117500, AF314942, AF314940, CH471125, BC126243, AF314937, AF314934, AF314953, AF314956, AF116242, AC021822, AF314931, AF314950, AF314954, AF314935, AF531260, BC126241, AF105366, AF531259, AF531258, AF314933, AF314946, AF314948, AF314945, AF314947, AF314932, AF314944, AF314936, DQ138323, AF314938, AC079203, AF108831, AF314951, AF314949, AF314952, AF314939, AF314941, AF314943, AF477977 Ensembl: ENSG00000140199 KO: hsa:9990
Nucleutide sequences	EMBL-CDS: AAD25337.1, AAM96216.1, AAD39742.1, ABA02873.1, AAL85335.1, AAI26244.1, AAM96215.1, EAW92301.1, AAQ10027.1, AAQ10028.1, AAI26242.1, EAW92295.1, EAW92297.1, BAG37692.1, AAF24986.1, CAB55965.1, AAQ10026.1, EAW92296.1, AAH70107.2, EAW92302.1, EAW92300.1 Gene_ORFName: hCG_1998565, hCG_1998565 Ensembl_TRS: ENST00000558667, ENST00000558589, ENST00000290209, ENST00000397702, ENST00000354181, ENST00000458406, ENST00000560611, ENST00000397707
Protein sequencees	Ensembl_PRO: ENSP00000452776, ENSP00000380819, ENSP00000453473, ENSP00000454168, ENSP00000380814, ENSP00000387725, ENSP00000346112, ENSP00000290209 RefSeq: NP_001035961.1, NP_001035960.1, NP_001352017.1, XP_011520571.1, NP_005126.1, NP_001035962.1, XP_006720856.1, NP_001035959.1, NP_598408.1
Others	UniRef100: UniRef100_Q9UHW9, UniRef100_Q6NSI7 UniRef90: UniRef90_Q9UHW9, UniRef90_Q9UHW9-2 UniRef50: UniRef50_Q9UHW9 UniGene: Hs.510939 CCDS: CCDS42012.1, CCDS42011.1, CCDS10036.1, CCDS42010.1, CCDS58352.1

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mRNA

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Description

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全选

Pubmed编号	文献信息	发表日期	相关基因
31439721	De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. J Med Genet Joohyun Park , Bianca R Flores , Katalin Scherer , Hanna Kuepper , Mari Rossi , Katrin Rupprich , Maren Rautenberg , Natalie Deininger , Annette Weichselbaum , Alexander Grimm , Marc Sturm , Ute Grasshoff , Eric Delpire , Tobias B Haack	2020-04-01	-
31995728	AMPK, a Regulator of Metabolism and Autophagy, Is Activated by Lysosomal Damage via a Novel Galectin-Directed Ubiquitin Signal Transduction System. Mol Cell Jingyue Jia , Bhawana Bissa , Lukas Brecht , Lee Allers , Seong Won Choi , Yuexi Gu , Mark Zbinden , Mark R Burge , Graham Timmins , Kenneth Hallows , Christian Behrends , Vojo Deretic	2020-03-05	-
31393094	SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. Mol Genet Genomic Med Sheng Chih Jin , Charuta G Furey , Xue Zeng , August Allocco , Carol Nelson-Williams , Weilai Dong , Jason K Karimy , Kevin Wang , Shaojie Ma , Eric Delpire , Kristopher T Kahle	2019-09-01	-
30868738	First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. Am J Med Genet A Iliyana Pacheva , Tihomir Todorov , Zeyra Halil , Ralitsa Yordanova , Albena Todorova , Ina Geneva , Fani Galabova , Ivan Ivanov	2019-06-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
29568061	An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Nat Commun Xiaonan Liu , Kari Salokas , Fitsum Tamene , Yaming Jiu , Rigbe G Weldatsadik , Tiina Ãhman , Markku Varjosalo	2018-03-22	-
28611215	Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proc. Natl. Acad. Sci. U.S.A. Teng Fei , Yiwen Chen , Tengfei Xiao , Wei Li , Laura Cato , Peng Zhang , Maura B Cotter , Michaela Bowden , Rosina T Lis , Shuang G Zhao , Qiu Wu , Felix Y Feng , Massimo Loda , Housheng Hansen He , X Shirley Liu , Myles Brown	2017-06-27	-
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	-
27230413	KCC3 axonopathy: neuropathological features in the central and peripheral nervous system. Mod. Pathol. Roland N Auer , Janet L LaganiÃ¨re , Yves O Robitaille , John Richardson , Patrick A Dion , Guy A Rouleau , Masoud Shekarabi	2016-09-01	-
27485015	Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal Kristopher T Kahle , Bianca Flores , Diana Bharucha-Goebel , Jinwei Zhang , Sandra Donkervoort , Madhuri Hegde , Gulnaz Hussain , Daniel Duran , Bo Liang , Dandan Sun , Carsten G BÃ¶nnemann , Eric Delpire	2016-08-02	-

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