SEC16A SEC16 homolog A, endoplasmic reticulum export factor
Gene ID: 9919, updated on 10-Oct-2024Gene type: protein coding
Also known as: p250; SEC16L; KIAA0310
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- Go to complete Gene record for SEC16A
- Go to Variation Viewer for SEC16A variants
Summary
This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available |
Genomic context
- Location:
- 9q34.3
- Sequence:
- Chromosome: 9; NC_000009.12 (136440105..136484740, complement)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEC16A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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