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

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; AllianceGenome:HGNC:24968
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: mouse all
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Genomic context

Location:: 6p25.3

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (485154..693139, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (343220..550045, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (485154..693139, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD.
Title: The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD.
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Title: Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
data suggest that the induction of SGK1 through treatment with dexamethasone alters MT dynamics to increase Sec5-GEF-H1 interactions, which promote GEF-H1 targeting to adhesion sites.
Title: Dexamethasone-induced cellular tension requires a SGK1-stimulated Sec5-GEF-H1 interaction.
Exocyst sec5 regulates exocytosis of newcomer insulin granules underlying biphasic insulin secretion.
Title: Exocyst sec5 regulates exocytosis of newcomer insulin granules underlying biphasic insulin secretion.
We identified interactions between RalA and its effectors sec5 and exo84 in the Exocyst complex as directly necessary for migration and invasion of prostate cancer tumor cells.
Title: Sec5 and Exo84 mediate distinct aspects of RalA-dependent cell polarization.
Data show that Mc1R, HERC2, IRF4, TYR and EXOC2 are ranked highest in hair color prediction analysis.
Title: Model-based prediction of human hair color using DNA variants.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic differences between five European populations.
Genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
shRNA-mediated knockdown of the Ral effector proteins Sec5 and Exo84, but less so in the case of RalBP1, reduced oncogenic RalGEF-mediated transformation and oncogenic Ras-driven tumorigenic growth of human cells.
Title: Sec5 and Exo84 foster oncogenic ras-mediated tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia MedGen: C5543332 OMIM: 619306 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of hair, eye and skin pigmentation in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of multiplex schizophrenia pedigrees. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of tanning phenotype in a population of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68754 (e-PCR)
- UniSTS:3919

RH68454 (e-PCR)
- UniSTS:23149

STS-AA019205 (e-PCR)
- UniSTS:28550

D6S962 (e-PCR), detects polymorphism
- UniSTS:30094

SHGC-35174 (e-PCR)
- UniSTS:33173

SEC5_1861 (e-PCR)
- UniSTS:280987

AL035370 (e-PCR)
- UniSTS:95171

SHGC-64315 (e-PCR)
- UniSTS:52682

RH37466 (e-PCR)
- UniSTS:3019

RH45976 (e-PCR)
- UniSTS:11771

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
involved_in Golgi to plasma membrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fission	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic cytokinesis	NAS Non-traceable Author Statement 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
involved_in vesicle docking involved in exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle docking involved in exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in vesicle tethering involved in exocytosis	NAS Non-traceable Author Statement 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
part_of exocyst	IDA Inferred from Direct Assay more info	PubMed
part_of exocyst	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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

NG_047166.1 RefSeqGene

Range

5003..212988

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018303.6 → NP_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

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7

Related

ENSP00000230449.4, ENST00000230449.9

Conserved Domains (2) summary

pfam01833
Location:8 → 91

TIG; IPT/TIG domain

pfam15469
Location:198 → 377

Sec5; Exocyst complex component Sec5

RNA

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

485154..693139 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017011022.2 → XP_016866511.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7

Conserved Domains (2) summary

pfam01833
Location:8 → 91

TIG; IPT/TIG domain

pfam15469
Location:198 → 377

Sec5; Exocyst complex component Sec5
XM_017011023.2 → XP_016866512.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7

Conserved Domains (2) summary

pfam01833
Location:8 → 91

TIG; IPT/TIG domain

pfam15469
Location:198 → 377

Sec5; Exocyst complex component Sec5
XM_047419010.1 → XP_047274966.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419015.1 → XP_047274971.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419009.1 → XP_047274965.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419008.1 → XP_047274964.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_017011024.2 → XP_016866513.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7

Conserved Domains (2) summary

pfam01833
Location:8 → 91

TIG; IPT/TIG domain

pfam15469
Location:198 → 377

Sec5; Exocyst complex component Sec5
XM_047419013.1 → XP_047274969.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419014.1 → XP_047274970.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419007.1 → XP_047274963.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419011.1 → XP_047274967.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_047419012.1 → XP_047274968.1 exocyst complex component 2 isoform X1

UniProtKB/Swiss-Prot

B2RBE6, Q5JPC8, Q96AN6, Q96KP1, Q9NUZ8, Q9UJM7

UniProtKB/TrEMBL

B3KPN7
XM_017011025.2 → XP_016866514.1 exocyst complex component 2 isoform X2

UniProtKB/TrEMBL

B3KPN7
XM_047419016.1 → XP_047274972.1 exocyst complex component 2 isoform X2

UniProtKB/TrEMBL

B3KPN7
XM_047419017.1 → XP_047274973.1 exocyst complex component 2 isoform X2

UniProtKB/TrEMBL

B3KPN7
XM_017011026.2 → XP_016866515.1 exocyst complex component 2 isoform X3

UniProtKB/TrEMBL

B3KPN7