Gene Gene information from NCBI Gene database.
Entrez ID 23265
Gene name Exocyst complex component 7
Gene symbol EXOC7
Synonyms (NCBI Gene)
2-5-3pBLOM4EX070EXO70EXOC1Exo70pNEDSEBAYJL085W
Chromosome 17
Chromosome location 17q25.1
Summary The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required f
miRNA miRNA information provided by mirtarbase database.
252
miRTarBase ID miRNA Experiments Reference
MIRT020501 hsa-miR-155-5p Proteomics 18668040
MIRT045968 hsa-miR-125b-5p CLASH 23622248
MIRT045968 hsa-miR-125b-5p CLASH 23622248
MIRT043463 hsa-miR-331-3p CLASH 23622248
MIRT040867 hsa-miR-18a-3p CLASH 23622248
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 IEA
GO:0000145 Component Exocyst NAS 22420621
GO:0000281 Process Mitotic cytokinesis NAS 22420621
GO:0005515 Function Protein binding IPI 15705715, 16148947, 16189514, 20579884, 24169621, 25416956, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608163 23214 ENSG00000182473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPT5
Protein name Exocyst complex component 7 (Exocyst complex component Exo70)
Protein function Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps direct
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03081 Exo70 361 729 Exo70 exocyst complex subunit Family
Tissue specificity TISSUE SPECIFICITY: Abundant in the ventricular zone, the outer subventricular zone and the cortical plate of the fetal cortex. {ECO:0000269|PubMed:32103185}.
Sequence
MIPPQEASARRREIEDKLKQEEETLSFIRDSLEKSDQLTKNMVSILSSFESRLMKLENSI
IPVHKQTENLQRLQENVEKTLSCLDHVISYYHVASDTEKIIREGPTGRLEEYLGSMAKIQ
KAVEYFQDNSPDSPELNKVKLLFERGKEALESEFRSLMTRHSKVVSPVLILDLISGDDDL
EAQEDVTLEHLPESVLQDVIRISRWLVEYGRNQDFMNVYYQIRSSQLDRSIKGLKEHFHK
SSSSSGVPYSPAIPNKRKDTPTKKPVKRPGTIRKAQNLLKQYSQHGLDGKKGGSNLIPLE
GLLPCTPRGGLPGPWINAACVCAADISPGHEHDFRVKHLSEALNDKHGPLAGRDDMLDVE
TDAYIHCVSAFVKLAQSEYQLLADIIPEHHQKKTFDSLIQDALDGLMLEGENIVSAARKA
IVRHDFSTVLTVFPILRHLKQTKPEFDQVLQGTAASTKNKLPGLITSMETIGAKALEDFA
DNIKNDPDKEYNMPKDGTVHELTSNAILFLQQLLDFQETAGAMLASQETSSSATSYSSEF
SKRLLSTYICKVLGNLQLNLLSKSKVYEDPALSAIFLHNNYNYILKSLEKSELIQLVAVT
QKTAERSYREHIEQQIQTYQRSWLKVTDYIAEKNLPVFQPGVKLRDKERQIIKERFKGFN
DGLEELCKIQKAWAIPDTEQRDRIRQAQKTIVKETYGAFLQKFGSVPFTKNPEKYIKYGV
EQVGDMIDR
LFDTSA
Sequence length 735
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Insulin signaling pathway
Salmonella infection
  Insulin processing
VxPx cargo-targeting to cilium
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 seizures and brain atrophy Pathogenic rs1310629937, rs2067339335, rs759489151, rs762553587 RCV001263548
RCV001263549
RCV001263550
RCV001263551
★★★★☆
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
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EXOC7-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26848864 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 28698570
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28698570 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 26848864
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms BEFREE 26848864
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 24331928
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 28698570
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28698570
★☆☆☆☆
Found in Text Mining only
Varicosity Vulval varices BEFREE 30209205
★☆☆☆☆
Found in Text Mining only