1. Gene
  2. EXOC8 - exocyst complex component 8 Gene

EXOC8 - exocyst complex component 8 Gene

Homo sapiens

Also known as EXO84; SEC84; Exo84p; NEDMISB

Gene ID: 149371 | Gene type: protein coding

About EXOC8

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:231,332,753-231,337,852 (from NCBI)

This gene has 1 transcript (splice variant), 194 orthologues and is associated with 1 phenotype.

Summary

This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]

EXOC8 Products(1)

mRNA Protein Name
NM_175876.5 NP_787072.2 exocyst complex component 8

EXOC8 Protein Structure

Vps51

Vps51: Vps51/Vps67 (13 - 97)

  • 0
  • 200
  • 400
  • 600
  • 721 a.a.
Protein Preferred Names Protein Names

exocyst complex component 8

exocyst complex 84 kDa subunit

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy

NEDMISB

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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
Macaca mulatta EXOC8 VGNC VGNC:72330
Mus musculus EXOC8 MGD MGI:2142527
Felis catus EXOC8 VGNC VGNC:62005
Bos taurus EXOC8 VGNC VGNC:28653
Canis familiaris EXOC8 VGNC VGNC:40519
Rattus norvegicus EXOC8 RGD RGD:620245