Gene
SEC23A
SEC23 homolog A, COPII component
- HGNC 10701↗(opens in a new tab)
- Ensembl gene ENSG00000100934↗(opens in a new tab)
- NCBI Gene 10484↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q21.1
- Coordinates
- Chromosome 14: 39,031,919–39,103,235 (GRCh38)
- Exons
- 20 exons across 71.3 kb
- Protein
- 765 amino acids
- MANE Select transcript
- ENST00000307712.11NM_006364.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SEC23A yet. The test sequences your whole genome, so your data includes it all the same.
How SEC23A is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.8 kb of the gene's 71.3 kb; 2,298 of those bases code for the protein.
How a genome test reads SEC23A
2
positions in SEC23A where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 71.3 kb of SEC23A, introns included, not only the 3.8 kb of exons.
Traits linked to SEC23A
The Human Phenotype Ontology lists these as features of the rare conditions SEC23A can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Delayed closure of the soft spot on the skull
- Delayed eruption of teeth
- Dental cavities
- Frontal bossing
- Long philtrum
- Midface retrusion
- Prominent brow
- Prominent nasal bridge
Show 20 more traits
- Smooth philtrum
- Thin red part of the upper lip
- Wide mouth
- Wide nasal bridge
- Wider-than-typical soft spot of skull
- Decreased bone formation of skull
- Decreased size of maxilla
- Decreased size of teeth
- Decreased size of tooth
- Decreased volume of lip
- Early tooth loss
- Wide fontanelles
- Wide nose
- Bifid uvula
- Cleft palate
- High palate
- Big calvaria
- Darkening of the forehead
- Nasal tip, upturned
- Zygomatic flattening
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SEC23A gene: SEC23 homolog A, COPII component. Retrieved 17 October 2026, from https://dantelabs.com/genes/sec23a
Dante Labs. SEC23A gene: SEC23 homolog A, COPII component [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sec23a
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