Gene: EXOC6B
Alternate names for this Gene: SEC15B|SEC15L2|SEMDJL3
Gene Summary: This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD).
Gene is located in Chromosome: 2
Location in Chromosome : 2p13.2
Description of this Gene: exocyst complex component 6B
Type of Gene: protein-coding
rs138296890 in
EXOC6B gene and
Body Height
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
rs1064795104 in
EXOC6B gene and
Cutis marmorata
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs10193543 in
EXOC6B gene and
Diastolic blood pressure
PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
rs1064795104 in
EXOC6B gene and
Dysmorphic facies
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1553417206 in
EXOC6B gene and
Dysmorphic features
PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
rs1064795104 in
EXOC6B gene and
Eczema
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1064795104 in
EXOC6B gene and
Encephalopathy, CTCAE 3.0
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1064795104 in
EXOC6B gene and
Facial asymmetry
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Global developmental delay
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Microcephaly (physical finding)
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1553417206 in
EXOC6B gene and
Movement Disorders
PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
rs1064795104 in
EXOC6B gene and
Myopia
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1064795104 in
EXOC6B gene and
Nystagmus
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Osteopenia
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1064795104 in
EXOC6B gene and
Penile hypospadias
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1064795104 in
EXOC6B gene and
Poor school performance
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Seizures
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Short neck
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Short stature
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1064795104 in
EXOC6B gene and
Torticollis
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs1064795104 in
EXOC6B gene and
Wide spaced nipples
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.