EXOC2
entrez
55770
canonical
uniprot
Q96KP1
canonical
ensembl
ENSG00000112685
resolver
ensp
ENSP00000230449
resolver
ensp
ENSP00000540933
resolver
ensp
ENSP00000540934
resolver
ensp
ENSP00000540935
resolver
ensp
ENSP00000540937
resolver
ensp
ENSP00000600346
resolver
ensp
ENSP00000600347
resolver
ensp
ENSP00000600351
resolver
ensp
ENSP00000600352
resolver
ensp
ENSP00000600355
resolver
ensp
ENSP00000671133
resolver
ensp
ENSP00000671134
resolver
enst
ENST00000230449
resolver
enst
ENST00000870874
resolver
enst
ENST00000870875
resolver
enst
ENST00000870876
resolver
enst
ENST00000870878
resolver
enst
ENST00000930287
resolver
enst
ENST00000930288
resolver
enst
ENST00000930292
resolver
enst
ENST00000930293
resolver
enst
ENST00000930296
resolver
genesymbol
EXOC2
resolver
genesymbol_syn
SEC5
resolver
genesymbol_syn
SEC5L1
resolver
hgnc
HGNC:24968
resolver
uniprot
B2RBE6
resolver
uniprot
Q5JPC8
resolver
uniprot
Q96AN6
resolver
uniprot
Q9NUZ8
resolver
uniprot
Q9UJM7
resolver
uniprot_entry
EXOC2_HUMAN
resolver
uniprot_sec
B2RBE6
resolver
uniprot_sec
Q5JPC8
resolver
uniprot_sec
Q96AN6
resolver
uniprot_sec
Q9NUZ8
resolver
uniprot_sec
Q9UJM7
resolver
amino_acid_sequence
MSRSRQPPLVTGISPNEGIPWTKVTIRGENLGTGPTDLIGLTICGHNCLLTAEWMSASKIVCRVGQAKNDKGDIIVTTKSGGRGTSTVSFKLLKPEKIGILDQSAVWVDEMNYYDMRTDRNKGIPPLSLRPANPLGIEIEKSKFSQKDLEMLFHGMSADFTSENFSAAWYLIENHSNTSFEQLKMAVTNLKRQANKKSEGSLAYVKGGLSTFFEAQDALSAIHQKLEADGTEKVEGSMTQKLENVLNRASNTADTLFQEVLGRKDKADSTRNALNVLQRFKFLFNLPLNIERNIQKGDYDVVINDYEKAKSLFGKTEVQVFKKYYAEVETRIEALRELLLDKLLETPSTLHDQKRYIRYLSDLHASGDPAWQCIGAQHKWILQLMHSCKEGYVKDLKGNPGLHSPMLDLDNDTRPSVLGHLSQTASLKRGSSFQSGRDDTWRYKTPHRVAFVEKLTKLVLSQLPNFWKLWISYVNGSLFSETAEKSGQIERSKNVRQRQNDFKKMIQEVMHSLVKLTRGALLPLSIRDGEAKQYGGWEVKCELSGQWLAHAIQTVRLTHESLTALEIPNDLLQTIQDLILDLRVRCVMATLQHTAEEIKRLAEKEDWIVDNEGLTSLPCQFEQCIVCSLQSLKGVLECKPGEASVFQQPKTQEEVCQLSINIMQVFIYCLEQLSTKPDADIDTTHLSVDVSSPDLFGSIHEDFSLTSEQRLLIVLSNCCYLERHTFLNIAEHFEKHNFQGIEKITQVSMASLKELDQRLFENYIELKADPIVGSLEPGIYAGYFDWKDCLPPTGVRNYLKEALVNIIAVHAEVFTISKELVPRVLSKVIEAVSEELSRLMQCVSSFSKNGALQARLEICALRDTVAVYLTPESKSSFKQALEALPQLSSGADKKLLEELLNKFKSSMHLQLTCFQAASSTMMKT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) [MIM:619306]: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures. {ECO:0000269|PubMed:32639540}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. {ECO:0000269|PubMed:12459492, ECO:0000269|PubMed:32639540}.
uniprot
proteins
mass_dalton
104066
uniprot
proteins
mutagenesis
MUTAGEN 11; /note="T->A: Impaired cytokinesis. Loss of RALA-binding. No change in localization to the midbody during cytokinesis."; /evidence="ECO:0000269|PubMed:18756269
uniprot
proteins
protein_family
SEC5 family
uniprot
proteins
pubmed
12459492
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16213214
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18756269
uniprot
proteins
pubmed
19166349
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32639540
uniprot
proteins
sequence_length
924
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Midbody, Midbody ring {ECO:0000269|PubMed:16213214, ECO:0000269|PubMed:18756269}. Note=Recruitment to the midbody does not require RALA, nor RALB (PubMed:18756269). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). {ECO:0000269|PubMed:16213214, ECO:0000269|PubMed:18756269}.
uniprot
proteins