Gene
EEFSEC
eukaryotic elongation factor, selenocysteine-tRNA specific
- HGNC 24614(opens in a new tab)
- Ensembl gene ENSG00000132394(opens in a new tab)
- NCBI Gene 60678(opens in a new tab)
Summary
- Cytogenetic location
- 3q21.3
- Coordinates
- Chromosome 3: 128,153,481–128,408,646 (GRCh38)
- Exons
- 7 exons across 255.2 kb
- Protein
- 596 amino acids
- Also known as
- SELB, EFSEC
- MANE Select transcript
- ENST00000254730.11NM_021937.5
- 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 EEFSEC yet. The test sequences your whole genome, so your data includes it all the same.
How EEFSEC 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 2.2 kb of the gene's 255.2 kb; 1,791 of those bases code for the protein.
How a genome test reads EEFSEC
2
positions in EEFSEC 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 255.2 kb of EEFSEC, introns included, not only the 2.2 kb of exons.
Traits linked to EEFSEC
The Human Phenotype Ontology lists these as features of the rare conditions EEFSEC can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormality of the cerebellum
- Cognitive impairment
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed speech and language development
- Epilepsy
- Episodic ataxia
- Global developmental delay
Show 18 more traits
- Increased reflexes
- Intellectual disability, severe
- IQ between 34 and 49
- Leg paralysis
- Loss of developmental milestones
- Motor delay
- Paralysis of all four limbs
- Peripheral neuropathy
- Sensory axonal neuropathy
- Small cerebellum
- Thin corpus callosum
- Focal impaired awareness seizure
- Difficulty articulating speech
- Grand mal seizures
- Inability to coordinate movements when walking
- Intention tremor
- Myoclonic seizure
- Repeated seizures without recovery between them
Abnormality of head or neck
- Abnormally small head
- Development of small head that was not present at birth
- Long face
- Mild microcephaly
- Small head present at birth
- Thin eyebrow
- Abnormal facial shape
- High palate
Show 2 more traits
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Funnel chest
- Hunched back
- Low muscle tone
- Low muscle tone in trunk
- Lower limb spasticity
- Poorly developed skeletal musculature
- Severely decreased muscle tone
Show 2 more traits
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.). EEFSEC gene: eukaryotic elongation factor, selenocysteine-tRNA specific. Retrieved 17 October 2026, from https://dantelabs.com/genes/eefsec
Dante Labs. EEFSEC gene: eukaryotic elongation factor, selenocysteine-tRNA specific [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/eefsec
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