Gene
EFTUD2
elongation factor Tu GTP binding domain containing 2
- HGNC 30858(opens in a new tab)
- Ensembl gene ENSG00000108883(opens in a new tab)
- NCBI Gene 9343(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.31
- Coordinates
- Chromosome 17: 44,849,948–44,899,445 (GRCh38)
- Exons
- 28 exons across 49.5 kb
- Protein
- 972 amino acids
- Also known as
- U5-116KD, Snrp116, Snu114, SNRNP116
- MANE Select transcript
- ENST00000426333.7NM_004247.4
- 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 EFTUD2 yet. The test sequences your whole genome, so your data includes it all the same.
How EFTUD2 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 4.3 kb of the gene's 49.5 kb; 2,919 of those bases code for the protein.
How a genome test reads EFTUD2
87
positions in EFTUD2 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 49.5 kb of EFTUD2, introns included, not only the 4.3 kb of exons.
Traits linked to EFTUD2
The Human Phenotype Ontology lists these as features of the rare conditions EFTUD2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cleft palate
- Decreased size of maxilla
- Development of small head that was not present at birth
- Little lower jaw
- Short nose
- Skin tag in front of the ear
- Triangular head shape
- Upward slanting of the opening between the eyelids
Show 12 more traits
- Zygomatic flattening
- Accessory oral frenulum
- Corners of eye widely separated
- Eye folds
- Abnormally small head
- Blockage of the rear opening of the nasal cavity
- Deep philtrum
- Downward slanting of the opening between the eyelids
- Mandibulofacial dysostosis
- Midface retrusion
- Nasal tip, upturned
- Progressively abnormally small cranium
Abnormality of the ear
- Abnormal antihelix morphology
- Abnormality of the outer ear
- Absent tragus
- Low-set ears
- Middle ear malformation
- Small ears
- Underdeveloped tragus
- Absent ear canal
Show 3 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.). EFTUD2 gene: elongation factor Tu GTP binding domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/eftud2
Dante Labs. EFTUD2 gene: elongation factor Tu GTP binding domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/eftud2
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