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57498 KIDINS220

57498

KIDINS220

kinase D interacting substrate 220

protein-coding

Homo sapiens

基因描述

Type Description
Definition kinase D interacting substrate 220

研究结论

Date Results Publications
2020-11-28 13:14:00 Functional analysis of a novel fusion protein PAX5-KIDINS220 identified in a pediatric Ph-like ALL patient. 32656633
2020-05-16 12:11:00 Study reveals a non-classical hereditary spastic paraplegia (HSP), intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 nonsense mutation, which broadens both the clinical and genetic spectrum for autosomal dominant HSP. 31630374
2020-04-18 10:38:00 Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. 31577543
2019-10-19 10:54:00 data indicate that ARMS/Kidins220 controls the regulated secretion of BDNF and might play a crucial role in the pathogenesis of Huntington's disease 29769266
2018-05-19 11:24:00 Kidins220 has a prominent role in tumor development by participating in a complex signaling pathways. (Review) 28849114

名称对应

Type IDs
Synonymous ARMS, SINO
Gene
UniProtKB-ID: KDIS_HUMAN
UniprotKB: Q9ULH0
UniParc: UPI0000208E07, UPI0001642842, UPI0000ED0487, UPI0000208E08, UPI0000049B0A
EMBL: BC130610, AL137553, BC094714, AK023926, AL133620, BX640878, AB033076, AK022873
Ensembl: ENSG00000134313
KO: hsa:57498
Nucleutide sequences
EMBL-CDS: AAI30611.1, CAB70807.1, BAA86564.2, CAB63746.1, BAB14728.1, BAB14285.1, CAE45935.1, AAH94714.1
Ensembl_TRS: ENST00000256707, ENST00000473731, ENST00000319688
Protein sequencees
Ensembl_PRO: ENSP00000319947, ENSP00000256707, ENSP00000418974
RefSeq: NP_001335665.1, NP_065789.1, NP_001335663.1, NP_001335667.1, NP_001335658.1, NP_001335660.1, NP_001335671.1, NP_001335664.1, NP_001335674.1, NP_001335672.1, NP_001335670.1, NP_001335661.1, NP_001335668.1, NP_001335669.1
Others
UniRef100: UniRef100_Q9ULH0
UniRef90: UniRef90_Q9ULH0
UniRef50: UniRef50_Q9EQG6
UniGene: Hs.9873
CCDS: CCDS86819.1, CCDS42650.1, CCDS86818.1

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