1. Gene
  2. EXOC2 - exocyst complex component 2 Gene

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

EXOC2 Protein Structure

TIG

TIG: IPT/TIG domain (8 - 90)

Sec5

Sec5: Exocyst complex component Sec5 (200 - 377)

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  • 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

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