Gene Gene information from NCBI Gene database.
Entrez ID 55770
Gene name Exocyst complex component 2
Gene symbol EXOC2
Synonyms (NCBI Gene)
NEDFACHSEC5SEC5L1Sec5p
Chromosome 6
Chromosome location 6p25.3
Summary The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT020620 hsa-miR-155-5p Proteomics 18668040
MIRT023654 hsa-miR-1-3p Proteomics 18668040
MIRT049928 hsa-miR-30a-5p CLASH 23622248
MIRT047777 hsa-miR-30d-5p CLASH 23622248
MIRT039714 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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
615329 24968 ENSG00000112685
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96KP1
Protein name Exocyst complex component 2 (Exocyst complex component Sec5)
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
PF01833 TIG 8 92 IPT/TIG domain Domain
PF15469 Sec5 198 377 Exocyst complex component Sec5 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in brain and placenta. {ECO:0000269|PubMed:12459492}.
Sequence
MSRSRQPPLVTGISPNEGIPWTKVTIRGENLGTGPTDLIGLTICGHNCLLTAEWMSASKI
VCRVGQAKNDKGDIIVTTKSGGRGTSTVSFKL
LKPEKIGILDQSAVWVDEMNYYDMRTDR
NKGIPPLSLRPANPLGIEIEKSKFSQKDLEMLFHGMSADFTSENFSAAWYLIENHSNTSF
EQLKMAVTNLKRQANKKSEGSLAYVKGGLSTFFEAQDALSAIHQKLEADGTEKVEGSMTQ
KLENVLNRASNTADTLFQEVLGRKDKADSTRNALNVLQRFKFLFNLPLNIERNIQKGDYD
VVINDYEKAKSLFGKTEVQVFKKYYAEVETRIEALRELLLDKLLETPSTLHDQKRYIRYL
SDLHASGDPAWQCIGAQ
HKWILQLMHSCKEGYVKDLKGNPGLHSPMLDLDNDTRPSVLGH
LSQTASLKRGSSFQSGRDDTWRYKTPHRVAFVEKLTKLVLSQLPNFWKLWISYVNGSLFS
ETAEKSGQIERSKNVRQRQNDFKKMIQEVMHSLVKLTRGALLPLSIRDGEAKQYGGWEVK
CELSGQWLAHAIQTVRLTHESLTALEIPNDLLQTIQDLILDLRVRCVMATLQHTAEEIKR
LAEKEDWIVDNEGLTSLPCQFEQCIVCSLQSLKGVLECKPGEASVFQQPKTQEEVCQLSI
NIMQVFIYCLEQLSTKPDADIDTTHLSVDVSSPDLFGSIHEDFSLTSEQRLLIVLSNCCY
LERHTFLNIAEHFEKHNFQGIEKITQVSMASLKELDQRLFENYIELKADPIVGSLEPGIY
AGYFDWKDCLPPTGVRNYLKEALVNIIAVHAEVFTISKELVPRVLSKVIEAVSEELSRLM
QCVSSFSKNGALQARLEICALRDTVAVYLTPESKSSFKQALEALPQLSSGADKKLLEELL
NKFKSSMHLQLTCFQAASSTMMKT
Sequence length 924
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras 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.).
39
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 dysmorphic facies and cerebellar hypoplasia Pathogenic rs2127584790 RCV001387537
★★★★☆
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
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
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 27115168
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26949549, 36776048 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 32639540 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20145037 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 21700618 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 21700618
★☆☆☆☆
Found in Text Mining only
Color Vision Defects Color vision deficiency Pubtator 18483556 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31502714 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 32639540 Associate
★☆☆☆☆
Found in Text Mining only