EXOC6B (exocyst complex component 6B)

2008-12-01  

Identity

HGNC
EXOC6B
LOCATION
2p13.2
LOCUSID
23233
ALIAS
SEC15B,SEC15L2,SEMDJL3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23233
MIM: 607880
HGNC: 17085
Ensembl: ENSG00000144036

Variants:

dbSNP: 23233
ClinVar: 23233
TCGA: ENSG00000144036
COSMIC: EXOC6B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144036ENST00000272427Q9Y2D4
ENSG00000144036ENST00000410104J3QT38
ENSG00000144036ENST00000410112F8W6R7
ENSG00000144036ENST00000634650A0A0U1RRB6

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
224338572012A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.57
238373982013Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.14
184242042008Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.8
252568112014Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.7
266696642016A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.5

Citation

Dessen P

EXOC6B (exocyst complex component 6B)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50565/exoc6b-(exocyst-complex-component-6b)