SEC23B Chromosome 20
SEC23 homolog B, COPII component
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What This Gene Does
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. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Coat protein complex II
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000101310
Associated Conditions (13)
Congenital dyserythropoietic anemia
type II
Cowden syndrome 7
SEC23B-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Melanoma
Cervical cancer
Sarcoma
See cases
Thyroid cancer
nonmedullary
1
Key Variants
RS111758941
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS111951711
Conflicting classifications of pathogenicity
Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
Health Risk
RS121918223
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS138314893
Conflicting classifications of pathogenicity
Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
Health Risk
RS139882548
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS140466726
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS142461689
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS143417821
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS143456757
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS1443733304
Conflicting classifications of pathogenicity
Health Risk
RS146587686
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS146917730
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517485589 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |
| RS371646735 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |
| RS398124225 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |
| RS750888081 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |
| RS771869140 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |
| RS776983439 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |
| RS781770571 | Health Risk | Pathogenic/Likely pathogenic | Cowden syndrome 7, Congenital dyserythropoietic anemia, type II |
| RS953079477 | Health Risk | Pathogenic/Likely pathogenic | Congenital dyserythropoietic anemia, type II, Cowden syndrome 7 |