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EXOC2 exocyst complex component 2 [ Homo sapiens (human) ]

Gene ID: 55770, updated on 8-Jul-2021

Summary

Official Symbol
EXOC2provided by HGNC
Official Full Name
exocyst complex component 2provided by HGNC
Primary source
HGNC:HGNC:24968
See related
Ensembl:ENSG00000112685 MIM:615329
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SEC5; Sec5p; SEC5L1; NEDFACH
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 proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

See EXOC2 in Genome Data Viewer
Location:
6p25.3
Exon count:
34
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (485154..693141, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (485154..693139, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene interferon regulatory factor 4 Neighboring gene uncharacterized LOC105374875 Neighboring gene microtubule affinity regulating kinase 2 pseudogene Neighboring gene HUS1 checkpoint clamp component B Neighboring gene uncharacterized LOC105374873 Neighboring gene uncharacterized LOC101927691

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
GeneReviews: Not available
Genetic determinants of hair, eye and skin pigmentation in Europeans.
GeneReviews: Not available
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
GeneReviews: Not available
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.
GeneReviews: Not available
Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.
GeneReviews: Not available
Genome-wide association study of multiplex schizophrenia pedigrees.
GeneReviews: Not available
Genome-wide association study of tanning phenotype in a population of European ancestry.
GeneReviews: Not available
GWAS of dental caries patterns in the permanent dentition.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
GeneReviews: Not available
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
MedGen: CN296589 OMIM: 619306 GeneReviews: Not available
not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef-mediated actin rearrangement is inhibited by EXOC2 PubMed
nef HIV-1 Nef interacts with EXOC2 and this interaction is dependent on the GTPase interaction site of PAK2 PubMed
nef HIV-1 Nef (SF2) interacts with EXOC2; interaction is reduced by Nef F165A mutation, mutation in Nef proline-rich SH3 domain binding motif (mutant AxxA) and by Nef mutations that disrupt the acidic stretch that mediate interaction with PACS/AP-1 (E4A4) PubMed
nef HIV-1 Nef (SF2) interacts with EXOC2 in HIV-infected cells (Jurkat T lymphocytes (Jurkate Tag) and this interaction is conserved amongst lentiviruses tested (Tan3, 8161k9, Ben, NL4-3, SIVmac, and Cpz Gab2) PubMed
nef EXOC2 depletion by shRNA abrogates HIV-1 Nef-mediated enhancement of nanotube formation in Jurkat cells PubMed
nef HIV-1 Nef immunocomplexes analyzed by mass spectrometry reveal that exocyst complex component 2 (EXOC2) is a Nef-binding protein in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11026

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein N-terminus binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of entry of bacterium into host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Flemming body IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of exocyst IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of exocyst IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
exocyst complex component 2
Names
SEC5-like 1
exocyst complex component Sec5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047166.1 RefSeqGene

    Range
    5003..212988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018303.6NP_060773.3  exocyst complex component 2

    See identical proteins and their annotated locations for NP_060773.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter, protein coding transcript.
    Source sequence(s)
    AK314628, AL512308, AL833213, DA228027
    Consensus CDS
    CCDS34327.1
    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Related
    ENSP00000230449.4, ENST00000230449.9
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5

RNA

  1. NR_073064.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes two alternate exons near the 5' end, compared to variant 1, which results in the introduction of an upstream ORF with a strong Kozak signal that is predicted to interfere with translation of the longest ORF. Since translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD) this variant is represented as non-coding.
    Source sequence(s)
    AL512308, AL833213, BC080542, DA228027

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    485154..693141 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011020.1XP_016866509.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  2. XM_017011018.1XP_016866507.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  3. XM_017011021.1XP_016866510.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  4. XM_017011022.1XP_016866511.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  5. XM_017011023.1XP_016866512.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  6. XM_017011024.1XP_016866513.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  7. XM_017011019.1XP_016866508.1  exocyst complex component 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96KP1
    UniProtKB/TrEMBL
    A0A024QZT2
    Conserved Domains (2) summary
    pfam01833
    Location:891
    TIG; IPT/TIG domain
    pfam15469
    Location:198377
    Sec5; Exocyst complex component Sec5
  8. XM_017011025.1XP_016866514.1  exocyst complex component 2 isoform X2

  9. XM_017011026.1XP_016866515.1  exocyst complex component 2 isoform X3

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