SEC23B (SEC23 homolog B, COPII coat complex component)

2015-03-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
CDA-II,CDAII,CDAN2,CWS7,HEMPAS,hSec23B
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
195616052009Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.82
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
196214182009Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.52
200158932010Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.19
265224722015Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.19
279841152017Epigenetic disruption of miR-130a promotes prostate cancer by targeting SEC23B and DEPDC1.16
209417882010Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.14
300651142018Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.14
240693992013ALG-2 attenuates COPII budding in vitro and stabilizes the Sec23/Sec31A complex.13
203813882010CDAII presenting as hydrops foetalis: molecular characterization of two cases.8

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/sec23b