Gene Gene information from NCBI Gene database.
Entrez ID 149371
Gene name Exocyst complex component 8
Gene symbol EXOC8
Synonyms (NCBI Gene)
EXO84Exo84pNEDMISBSEC84
Chromosome 1
Chromosome location 1q42.2
Summary This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is
miRNA miRNA information provided by mirtarbase database.
483
miRTarBase ID miRNA Experiments Reference
MIRT030740 hsa-miR-21-5p Microarray 18591254
MIRT039884 hsa-miR-615-3p CLASH 23622248
MIRT036462 hsa-miR-1226-3p CLASH 23622248
MIRT658479 hsa-miR-627-3p HITS-CLIP 23824327
MIRT658478 hsa-miR-4446-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000145 Component Exocyst IBA
GO:0000145 Component Exocyst IDA 24056301
GO:0000145 Component Exocyst IEA
GO:0000145 Component Exocyst NAS 22420621
GO:0000281 Process Mitotic cytokinesis NAS 22420621
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615283 24659 ENSG00000116903
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYI6
Protein name Exocyst complex component 8 (Exocyst complex 84 kDa subunit)
Protein function Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08700 Vps51 17 104 Family
PF16528 Exo84_C 335 540 Exocyst component 84 C-terminal Domain
Sequence
MAMAMSDSGASRLRRQLESGGFEARLYVKQLSQQSDGDRDLQEHRQRIQALAEETAQNLK
RNVYQNYRQFIETAREISYLESEMYQLSHLLTEQKSSLESIPLT
LLPAAAAAGAAAASGG
EEGVGGAGGRDHLRGQAGFFSTPGGASRDGSGPGEEGKQRTLTTLLEKVEGCRHLLETPG
QYLVYNGDLVEYDADHMAQLQRVHGFLMNDCLLVATWLPQRRGMYRYNALYSLDGLAVVN
VKDNPPMKDMFKLLMFPESRIFQAENAKIKREWLEVLEDTKRALSEKRRREQEEAAAPRG
PPQVTSKATNPFEDDEEEEPAVPEVEEEKVDLSMEWIQELPEDLDVCIAQRDFEGAVDLL
DKLNHYLEDKPSPPPVKELRAKVEERVRQLTEVLVFELSPDRSLRGGPKATRRAVSQLIR
LGQCTKACELFLRNRAAAVHTAIRQLRIEGATLLYIHKLCHVFFTSLLETAREFEIDFAG
TDSGCYSAFVVWARSAMGMFVDAFSKQVFDSKESLSTAAECVKVAKEHCQQLGDIGLDLT

FIIHALLVKDIQGALHSYKEIIIEATKHRNSEEMWRRMNLMTPEALGKLKEEMKSCGVSN
FEQYTGDDCWVNLSYTVVAFTKQTMGFLEEALKLYFPELHMVLLESLVEIILVAVQHVDY
SLRCEQDPEKKAFIRQNASFLYETVLPVVEKRFEEGVGKPAKQLQDLRNASRLIRVNPES
TTSVV
Sequence length 725
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Insulin processing
VxPx cargo-targeting to cilium
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy Likely pathogenic rs1686661157 RCV001263552
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EXOC8-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Joubert syndrome Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 20145037 Associate
★☆☆☆☆
Found in Text Mining only