SEC16A (SEC16 homolog A, endoplasmic reticulum export factor)

2012-11-01  

Identity

HGNC
SEC16A
LOCATION
9q34.3
LOCUSID
9919
ALIAS
KIAA0310,SEC16L,p250
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9919
MIM: 612854
HGNC: 29006
Ensembl: ENSG00000148396

Variants:

dbSNP: 9919
ClinVar: 9919
TCGA: ENSG00000148396
COSMIC: SEC16A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148396ENST00000277537A0A0C4DH09
ENSG00000148396ENST00000290037F1T0I1
ENSG00000148396ENST00000313050O15027
ENSG00000148396ENST00000313084Q8N9G1
ENSG00000148396ENST00000371706A0A3F2YNX0
ENSG00000148396ENST00000431893A0A3F2YNZ0
ENSG00000148396ENST00000453963X6RGP5

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

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
291873802018Nbeal2 interacts with Dock7, Sec16a, and Vac14.11
293007662018Sec16A, a key protein in COPII vesicle formation, regulates the stability and localization of the novel ubiquitin ligase RNF183.6
291873802018Nbeal2 interacts with Dock7, Sec16a, and Vac14.11
293007662018Sec16A, a key protein in COPII vesicle formation, regulates the stability and localization of the novel ubiquitin ligase RNF183.6
280672622017Sec16A is critical for both conventional and unconventional secretion of CFTR.21
284425362017TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion.40
280672622017Sec16A is critical for both conventional and unconventional secretion of CFTR.21
284425362017TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion.40
259561572016Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.6
259561572016Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.6
255267362015Regulation of Sec16 levels and dynamics links proliferation and secretion.24
255267362015Regulation of Sec16 levels and dynamics links proliferation and secretion.24
252018822014Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.46
252018822014Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.46
217683842011Sec16B is involved in the endoplasmic reticulum export of the peroxisomal membrane biogenesis factor peroxin 16 (Pex16) in mammalian cells.37

Citation

Dessen P

SEC16A (SEC16 homolog A, endoplasmic reticulum export factor)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53044/css/lib/favicon/haematological-explorer/