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23299 BICD2

23299

BICD2

BICD cargo adaptor 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition BICD cargo adaptor 2

研究结论

Date Results Publications
2021-01-16 15:58:00 Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. 32183910
2020-10-24 14:09:00 Hypoxia-induced changes in intragenic DNA methylation correlate with alternative splicing in breast cancer. 31965981
2020-08-01 10:10:00 In this review, we identify the characteristics of disease-causing variants in BICD2 that distinguish them from benign variation and perform genotype-phenotype correlations for 99 BICD2 variant carriers from 35 families. [Review] 32057122
2020-01-11 12:21:00 A novel heterozygous mutation in the BICD2 gene that led to substitution of valine for leucine at residue 121 of BICD2 (p.L121V) was identified in an autosomal dominant inherited family. 30738493
2019-09-07 10:14:00 Results provide evidence that BICD2 is a capsid-associated dynein adaptor utilized by HIV-1 for transport to the nucleus. 30068656

名称对应

Type IDs
Synonymous SMALED2, SMALED2A, SMALED2B, bA526D8.1
Gene
UniProtKB-ID: BICD2_HUMAN, Q96FU2_HUMAN
UniprotKB: Q8TD16, Q96FU2
UniParc: UPI00001BBAF1, UPI00000710B6, UPI0000071BF4
EMBL: AB014599, AL136981, BC010428, BC073970, AY052562, BC004296, AL137074
Ensembl: ENSG00000185963
KO: hsa:23299
Nucleutide sequences
EMBL-CDS: AAH04296.1, AAL12246.1, AAH73970.1, BAA31674.1, AAH10428.1
Ensembl_TRS: ENST00000356884, ENST00000375512
Protein sequencees
Ensembl_PRO: ENSP00000349351, ENSP00000364662
RefSeq: NP_056065.1, NP_001003800.1, XP_016870040.1
Others
UniRef100: UniRef100_Q96FU2, UniRef100_Q8TD16
UniRef90: UniRef90_Q96FU2, UniRef90_Q8TD16
UniRef50: UniRef50_Q8TD16, UniRef50_Q96FU2
UniGene: Hs.436939
CCDS: CCDS35064.1, CCDS6700.1

全选

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