SEC23B (SEC23 homolog B, COPII coat complex component)

2015-03-01  

Identity

HGNC
SEC23B
LOCATION
20p11.23
LOCUSID
10483
ALIAS
CDA-II,CDAII,CDAN2,CWS7,HEMPAS,hSec23B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10483
MIM: 610512
HGNC: 10702
Ensembl: ENSG00000101310

Variants:

dbSNP: 10483
ClinVar: 10483
TCGA: ENSG00000101310
COSMIC: SEC23B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101310ENST00000262544Q15437
ENSG00000101310ENST00000336714Q15437
ENSG00000101310ENST00000377465Q15437
ENSG00000101310ENST00000422877Q5QPE1
ENSG00000101310ENST00000450074Q5QPE2
ENSG00000101310ENST00000474619A0A2R8YF30
ENSG00000101310ENST00000643747A0A2R8YFH5
ENSG00000101310ENST00000645851A0A2R8Y7S7
ENSG00000101310ENST00000646240A0A2R8Y633
ENSG00000101310ENST00000650089Q15437

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
372045952023Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population.0
373730842023New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.1
372045952023Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population.0
373730842023New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.1
349541402022A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice.2
351632292022SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.5
349541402022A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice.2
351632292022SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.5
337537242021Non-canonical role of wild-type SEC23B in the cellular stress response pathway.1
339142622021Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.0
343656112021[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia].0
337537242021Non-canonical role of wild-type SEC23B in the cellular stress response pathway.1
339142622021Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.0
343656112021[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia].0
321231602020Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis.5

Citation

Dessen P

SEC23B (SEC23 homolog B, COPII coat complex component)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55636/gene-fusions-explorer/favicon/apple-touch-icon.png