EXOC3L2 (exocyst complex component 3 like 2)

2007-02-01  

Identity

HGNC
EXOC3L2
LOCATION
19q13.32
LOCUSID
90332
ALIAS
XTP7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90332
MIM: 616927
HGNC: 30162

Variants:

dbSNP: 90332
ClinVar: 90332
COSMIC: EXOC3L2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

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
303274482019Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.5
303274482019Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.5
284236152017EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population.4
284236152017EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population.4
236633852013Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease.6
236633852013Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease.6
223813992012Lack of association between rs597668 polymorphism near EXOC3L2 and late-onset Alzheimer's disease in Han Chinese.7
223813992012Lack of association between rs597668 polymorphism near EXOC3L2 and late-onset Alzheimer's disease in Han Chinese.7
215661432011Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells.16
215661432011Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells.16
204606222010Genome-wide analysis of genetic loci associated with Alzheimer disease.594
204606222010Genome-wide analysis of genetic loci associated with Alzheimer disease.594

Citation

Dessen P

EXOC3L2 (exocyst complex component 3 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45813/exoc3l2-(exocyst-complex-component-3-like-2)