SEC24B (SEC24 homolog B, COPII coat complex component)

2014-11-01  

Identity

HGNC
SEC24B
LOCATION
4q25
LOCUSID
10427
ALIAS
SEC24
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10427
MIM: 607184
HGNC: 10704
Ensembl: ENSG00000138802

Variants:

dbSNP: 10427
ClinVar: 10427
TCGA: ENSG00000138802
COSMIC: SEC24B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138802ENST00000265175O95487
ENSG00000138802ENST00000399100O95487
ENSG00000138802ENST00000504968O95487

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

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
COPII complexKEGGhsa_M00404
COPII complexKEGGM00404
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Cargo concentration in the ERREACTOMER-HSA-5694530

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
365362412023Microglia ferroptosis is regulated by SEC24B and contributes to neurodegeneration.58
365362412023Microglia ferroptosis is regulated by SEC24B and contributes to neurodegeneration.58
320580342020The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.6
320580342020The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.6
235923782013Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.25
235923782013Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.25
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
187138352008Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development.93
187138352008Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development.93

Citation

Dessen P

SEC24B (SEC24 homolog B, COPII coat complex component)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73092/sec24b-(sec24-homolog-b-copii-coat-complex-component)