Gene: SEC23B

Alternate names for this Gene: CDA-II|CDAII|CDAN2|CWS7|HEMPAS|hSec23B

Gene Summary: The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.23

Description of this Gene: SEC23 homolog B, COPII coat complex component

Type of Gene: protein-coding

rs121918221 in SEC23B gene and COWDEN SYNDROME 7 PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 21252497 2011 E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 20015893 2010 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

PMID 26522472 2015 Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

rs121918221 in SEC23B gene and Congenital dyserythropoietic anemia, type II PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

PMID 19621418 2009 Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C>T, c.325G>A, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C>T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G>A), and three nonsense (c.568C>T, c.649C>T, and c.1660C>T).

PMID 20015893 2010 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

PMID 21252497 2011 Most CDA II patients in Israel are of Moroccan Jewish origin and carry a common SEC23B mutation, E109K, the first to be described as a founder mutation causing CDA II.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 22208203 2011 Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

PMID 19621418 2009 Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C>T, c.325G>A, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C>T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G>A), and three nonsense (c.568C>T, c.649C>T, and c.1660C>T).

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 23453696 2013 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

PMID 19621418 2009 Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C>T, c.325G>A, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C>T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G>A), and three nonsense (c.568C>T, c.649C>T, and c.1660C>T).

PMID 20941788 2010 Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

PMID 19621418 2009 Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C>T, c.325G>A, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C>T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G>A), and three nonsense (c.568C>T, c.649C>T, and c.1660C>T).

rs398124226 in SEC23B gene and Familial Mediterranean Fever PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

rs1555789463 in SEC23B gene and HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PMID 23453696 2013 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

rs121918222 in SEC23B gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

PMID 20015893 2010 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.