SEC24D Chromosome 4
SEC24 homolog D, COPII component
Upload your DNA to see your personal genotypes for variants in SEC24D.
What This Gene Does
The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Coat protein complex II
Locus Type
gene with protein product
Location
4q26
Ensembl
ENSG00000150961
Associated Conditions (3)
Inborn genetic diseases
SEC24D-related disorder
Cole-Carpenter syndrome 2
Key Variants
RS114096530
Conflicting classifications of pathogenicity
Inborn genetic diseases, SEC24D-related disorder, Inborn genetic diseases
Health Risk
RS115571066
Conflicting classifications of pathogenicity
Inborn genetic diseases, SEC24D-related disorder, Inborn genetic diseases
Health Risk
RS1417279876
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142692250
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146773641
Conflicting classifications of pathogenicity
Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
Health Risk
RS149063473
Conflicting classifications of pathogenicity
Cole-Carpenter syndrome 2, Inborn genetic diseases, SEC24D-related disorder
Health Risk
RS189735385
Conflicting classifications of pathogenicity
Health Risk
RS770063654
Conflicting classifications of pathogenicity
Health Risk
RS1365665482
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1455251047
Likely pathogenic
Health Risk
RS1726363887
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1726439532
Likely pathogenic
Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114096530 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SEC24D-related disorder, Inborn genetic diseases |
| RS115571066 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SEC24D-related disorder, Inborn genetic diseases |
| RS1417279876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142692250 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146773641 | Health Risk | Conflicting classifications of pathogenicity | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS149063473 | Health Risk | Conflicting classifications of pathogenicity | Cole-Carpenter syndrome 2, Inborn genetic diseases, SEC24D-related disorder |
| RS189735385 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770063654 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1365665482 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1455251047 | Health Risk | Likely pathogenic | — |
| RS1726363887 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1726439532 | Health Risk | Likely pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS1727568821 | Health Risk | Likely pathogenic | — |
| RS1730099972 | Health Risk | Likely pathogenic | — |
| RS1730973578 | Health Risk | Likely pathogenic | — |
| RS2530136674 | Health Risk | Likely pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS2530206539 | Health Risk | Likely pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS752673492 | Health Risk | Likely pathogenic | — |
| RS1182434832 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS1372766642 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS142002294 | Health Risk | Pathogenic | — |
| RS1455758932 | Health Risk | Pathogenic | — |
| RS1578383414 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS1578456973 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS1730078066 | Health Risk | Pathogenic | — |
| RS2110420831 | Health Risk | Pathogenic | — |
| RS2530075944 | Health Risk | Pathogenic | — |
| RS2530076755 | Health Risk | Pathogenic | — |
| RS2530246729 | Health Risk | Pathogenic | — |
| RS2530267413 | Health Risk | Pathogenic | — |
| RS2530286004 | Health Risk | Pathogenic | — |
| RS759594785 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS760670617 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS786204845 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS786204846 | Health Risk | Pathogenic | Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2 |
| RS918038911 | Health Risk | Pathogenic | — |
| RS769202646 | Health Risk | Pathogenic/Likely pathogenic | SEC24D-related disorder, SEC24D-related disorder |