TUBGCP2
tubulin gamma complex component 2
- Ensembl:
- ENSG00000130640
- UniProt:
- Q9BSJ2
- OMIM:
- 617817
- Synonyms:
- ALP4, GCP2, HGCP2, SPBC97, SPC97P
Cilia effects upon perturbation of TUBGCP2
Ciliogenesis screen results (5 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.28) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.03) PMID:20393562
Phenotypes
- Mouse phenotype:
- abnormal bone structure, preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis
- Mouse ciliopathy phenotype:
- abnormal sternum morphology
- Human ciliopathy phenotype:
- pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Subcellular localization
basal body, centrosome, cytosol
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Protein processing & maturation
Function
Also known as GCP2. Gamma tubulin complex protein. These type of complexes of gamma-tubulin are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869). Component of gamma- tubulin small complexes that then associate with associate with GCP4, GCP5 and GCP6 to form ring complexes (21725292).