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10844 TUBGCP2

10844

TUBGCP2

tubulin gamma complex associated protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition tubulin gamma complex associated protein 2

研究结论

Date Results Publications
2020-04-04 10:45:00 Pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder. 31630790
2014-07-05 13:46:00 Authors show genetically that GCP3/Spc98 function is fully conserved with Alp6 across species but that functional differences exist between GCP2/Spc97 and Alp4. 23886939
2010-01-21 00:00:00 Stability of the small gamma-tubulin complex (gamma tubulin/GCP2/GCP3) requires HCA66, a protein of the centrosome and the nucleolus. 19299467

名称对应

Type IDs
Synonymous ALP4, GCP-2, GCP2, Grip103, SPBC97, SPC97, Spc97p, h103p, hGCP2, hSpc97
Gene
UniProtKB-ID: GCP2_HUMAN, Q53EQ3_HUMAN
UniprotKB: Q9BSJ2, Q53EQ3
UniParc: UPI00020651C1, UPI000012B2E9, UPI00020651C0, UPI000050AA2F
EMBL: BC143247, BC093770, BC005011, AL360181, AK223586, BC111957, AK297251, AF042379, AL592071
Ensembl: ENSG00000130640
KO: hsa:10844
Nucleutide sequences
EMBL-CDS: AAC39728.1, AAI11958.1, AAI43248.1, BAG59730.1, AAH93770.1, BAD97306.1
Ensembl_TRS: ENST00000252936, ENST00000543663, ENST00000368563, ENST00000417178
Protein sequencees
Ensembl_PRO: ENSP00000395666, ENSP00000446093, ENSP00000357551, ENSP00000252936
RefSeq: NP_001243546.1, NP_001243547.1, NP_006650.1
Others
UniRef100: UniRef100_Q9BSJ2, UniRef100_Q53EQ3
UniRef90: UniRef90_Q9BSJ2
UniRef50: UniRef50_Q9BSJ2
UniGene: Hs.523370
CCDS: CCDS58104.1, CCDS58105.1, CCDS7676.1

全选

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