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253980 KCTD13

253980

KCTD13

potassium channel tetramerization domain containing 13

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium channel tetramerization domain containing 13

研究结论

Date Results Publications
2020-11-21 13:15:00 CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced 31402430
2019-04-13 12:10:00 Copy number variations in KCTD13 gene is associated with proximal syndromes with intellectual disability. 30518945
2017-12-23 12:45:00 Present study explores the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus. 27668412
2012-07-21 10:23:00 data suggest that KCTD13 is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 copy number variants (CNV), and reinforce the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes 22596160
2010-01-21 00:00:00 PDIP1 mRNA was expressed in 3T3-L1 adipocytes and THP-1 macrophages 16239304

名称对应

Type IDs
Synonymous BACURD1, FKSG86, PDIP1, POLDIP1, hBACURD1
Gene
UniProtKB-ID: BACD1_HUMAN, A0A3B3IS45_HUMAN
UniprotKB: Q8WZ19, A0A3B3IS45
UniParc: UPI0007DC7418, UPI0000073C51
EMBL: AK289630, CH471238, BC036228, AY027918, AF289573, AF401315, AC120114, KF459558
Ensembl: ENSG00000174943
KO: hsa:253980
Nucleutide sequences
EMBL-CDS: AAH36228.1, AAK27301.1, BAF82319.1, AAL14962.2, EAW79969.1, AAL55757.1
Gene_ORFName: PP6832, FKSG86
Ensembl_TRS: ENST00000568000, ENST00000308768, ENST00000567795
Protein sequencees
Ensembl_PRO: ENSP00000455785, ENSP00000311202, ENSP00000497126
RefSeq: NP_849194.1, XP_016878595.1, XP_016878593.1, XP_016878594.1, XP_011544085.1, XP_011544086.1
Others
UniRef100: UniRef100_A0A3B3IS45, UniRef100_Q8WZ19
UniRef90: UniRef90_A0A3B3IS45, UniRef90_Q8WZ19
UniRef50: UniRef50_A0A2I3SXR6, UniRef50_Q13829
UniGene: Hs.534590
CCDS: CCDS10661.1

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