TUBGCP2
entrez
10844
canonical
uniprot
Q9BSJ2
canonical
ensembl
ENSG00000130640
resolver
ensp
ENSP00000252936
resolver
ensp
ENSP00000395666
resolver
ensp
ENSP00000446093
resolver
genesymbol
TUBGCP2
resolver
genesymbol_syn
GCP2
resolver
hgnc
HGNC:18599
resolver
uniprot
B4DM18
resolver
uniprot
B7ZKL8
resolver
uniprot
F5H4E0
resolver
uniprot
F5H4L0
resolver
uniprot
O43632
resolver
uniprot
Q53EQ3
resolver
uniprot
Q5VWX7
resolver
uniprot_entry
GCP2_HUMAN
resolver
uniprot_entry
Q53EQ3_HUMAN
resolver
uniprot_sec
B4DM18
resolver
uniprot_sec
B7ZKL8
resolver
uniprot_sec
F5H4E0
resolver
uniprot_sec
F5H4L0
resolver
uniprot_sec
O43632
resolver
uniprot_sec
Q5VWX7
resolver
amino_acid_sequence
MSEFRIHHDVNELLSLLRVHGGDGAEVYIDLLQKNRTPYVTTTVSAHSAKVKIAEFSRTPEDFLKKYDELKSKNTRNLDPLVYLLSKLTEDKETLQYLQQNAKERAELAAAAVGSSTTSINVPAAASKISMQELEELRKQLGSVATGSTLQQSLELKRKMLRDKQNKKNSGQHLPIFPAWVYERPALIGDFLIGAGISTDTALPIGTLPLASQESAVVEDLLYVLVGVDGRYVSAQPLAGRQSRTFLVDPNLDLSIRELVHRILPVAASYSAVTRFIEEKSSFEYGQVNHALAAAMRTLVKEHLILVSQLEQLHRQGLLSLQKLWFYIQPAMRTMDILASLATSVDKGECLGGSTLSLLHDRSFSYTGDSQAQELCLYLTKAASAPYFEVLEKWIYRGIIHDPYSEFMVEEHELRKERIQEDYNDKYWDQRYTIVQQQIPSFLQKMADKILSTGKYLNVVRECGHDVTCPVAKEIIYTLKERAYVEQIEKAFNYASKVLLDFLMEEKELVAHLRSIKRYFLMDQGDFFVHFMDLAEEELRKPVEDITPPRLEALLELALRMSTANTDPFKDDLKIDLMPHDLITQLLRVLAIETKQEKAMAHADPTELALSGLEAFSFDYIVKWPLSLIINRKALTRYQMLFRHMFYCKHVERQLCSVWISNKTAKQHSLHSAQWFAGAFTLRQRMLNFVQNIQYYMMFEVMEPTWHILEKNLKSASNIDDVLGHHTGFLDTCLKDCMLTNPELLKVFSKLMSVCVMFTNCMQKFTQSMKLDGELGGQTLEHSTVLGLPAGAEERARKELARKHLAEHADTVQLVSGFEATINKFDKNFSAHLLDLLARLSIYSTSDCEHGMASVISRLDFNGFYTERLERLSAERSQKATPQVPVLRGPPAPAPRVAVTAQ
uniprot
proteins
disease_involvement
DISEASE: Cortical dysplasia, complex, with other brain malformations 15 (CDCBM15) [MIM:618737]: An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures. {ECO:0000269|PubMed:31630790}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809, PubMed:9566967). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809). Plays a role in neuronal migration (PubMed:31630790). {ECO:0000269|PubMed:31630790, ECO:0000269|PubMed:38305685, ECO:0000269|PubMed:38609661, ECO:0000269|PubMed:39321809, ECO:0000269|PubMed:9566967}.
uniprot
proteins
mass_dalton
102534
uniprot
proteins
protein_family
TUBGCP family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26213385
uniprot
proteins
pubmed
31630790
uniprot
proteins
pubmed
38305685
uniprot
proteins
pubmed
38609661
uniprot
proteins
pubmed
39321809
uniprot
proteins
pubmed
9566967
uniprot
proteins
sequence_length
902
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:9566967}.
uniprot
proteins