SNX14 (sorting nexin 14)

2014-11-01  

Identity

HGNC
SNX14
LOCATION
6q14.3
LOCUSID
57231
ALIAS
RGS-PX2,SCAR20
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57231
MIM: 616105
HGNC: 14977
Ensembl: ENSG00000135317

Variants:

dbSNP: 57231
ClinVar: 57231
TCGA: ENSG00000135317
COSMIC: SNX14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135317ENST00000314673Q9Y5W7
ENSG00000135317ENST00000346348Q9Y5W7
ENSG00000135317ENST00000369627Q9Y5W7
ENSG00000135317ENST00000369635E2QRM8
ENSG00000135317ENST00000418862Q5JRQ0
ENSG00000135317ENST00000505648Q9Y5W7
ENSG00000135317ENST00000508658H0Y926
ENSG00000135317ENST00000509338D6RBA7
ENSG00000135317ENST00000513865D6RDH9
ENSG00000135317ENST00000513869D6REK1
ENSG00000135317ENST00000514419D6RDA6
ENSG00000135317ENST00000515216D6RJG9

Expression (GTEx)

0
10
20
30
40
50
60
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
258487532015Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.39
254397282014Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.32
251486842014Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling.13
296355132018SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.11
307654382019Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts.10
279132852017Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.5

Citation

Dessen P

SNX14 (sorting nexin 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74048/snx14-(sorting-nexin-14)