EXOC2 - exocyst complex component 2 Gene

Homo sapiens

Also known as SEC5; Sec5p; SEC5L1; NEDFACH

Gene ID: 55770 | Gene type: protein coding

About EXOC2

Cytogenetic location: 6p25.3 Genomic coordinates (GRCh38): 6:485,154-693,139 (from NCBI)

This gene has 3 transcripts (splice variants), 212 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.9) and 25 other tissues.

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]

EXOC2 Products(1)

mRNA	Protein	Name
NM_018303.6	NP_060773.3	exocyst complex component 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12459492	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24056301	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	24056301	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Golgi to plasma membrane transport	IMP IMP: Inferred from mutant phenotype	32639540	GOA
involved in regulation of entry of bacterium into host cell	IMP IMP: Inferred from mutant phenotype	20579884	GOA
involved in vesicle docking involved in exocytosis	IDA IDA: Inferred from direct assay	12459492	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of exocyst	IDA IDA: Inferred from direct assay	24056301	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EXOC2 Protein Structure

TIG

Sec5

0
200
400
600
800
924 a.a.

Protein Preferred Names

Protein Names

exocyst complex component 2

SEC5-like 1

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia

NEDFACH

Ventricular Septal Defect

Ventricular Septal Defects	Interventricular Septal Defect
Heart Septal Defects, Ventricular	Ventricular Septal Abnormality
Interventricular Septum Defect	Ventricular Septum Defect
Vsd - [Ventricular Septum Defect]	Congenital Ventricular Septal Defect
Single Ventricular Septal Defect

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04588	EXOC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EXOC2	VGNC	VGNC:28644
Mus musculus	EXOC2	MGD	MGI:1913732
Macaca mulatta	EXOC2	VGNC	VGNC:72338
Felis catus	EXOC2	VGNC	VGNC:61998
Rattus norvegicus	EXOC2	RGD	RGD:619961
Canis familiaris	EXOC2	VGNC	VGNC:40513

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