EXOC3L4 (exocyst complex component 3 like 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 91828
Gene name Exocyst complex component 3 like 4
Gene symbol EXOC3L4
Synonyms (NCBI Gene)
C14orf73
Chromosome 14
Chromosome location 14q32.32
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0000145 Component Exocyst IBA
GO:0000145 Component Exocyst IEA
GO:0000149 Function SNARE binding IBA
GO:0006887 Process Exocytosis IBA
GO:0006887 Process Exocytosis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
621085 20120 ENSG00000205436
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q17RC7
Protein name Exocyst complex component 3-like protein 4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06046 Sec6 179 → 709 Exocyst complex component Sec6 Family
Sequence
Sequence length 722
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (5)
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
BILIARY LIVER CIRRHOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 30255815, 35210353 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Primary biliary cirrhosis Biliary Cirrhosis GWASDB_DG 21399635
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis Biliary Cirrhosis GWASCAT_DG 26394269
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations