Gene
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase
- HGNC 28526↗(opens in a new tab)
- Ensembl gene ENSG00000163378↗(opens in a new tab)
- NCBI Gene 285203↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p14.1
- Coordinates
- Chromosome 3: 68,975,225–69,013,684 (GRCh38)
- Exons
- 18 exons across 38.5 kb
- Protein
- 527 amino acids
- Also known as
- AER61, FLJ33770
- Previous symbols
- C3orf64
- MANE Select transcript
- ENST00000383701.8NM_001278689.2
- 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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How EOGT 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 4.4 kb of the gene's 38.5 kb; 1,584 of those bases code for the protein.
How a genome test reads EOGT
12
positions in EOGT 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 38.5 kb of EOGT, introns included, not only the 4.4 kb of exons.
Traits linked to EOGT
The Human Phenotype Ontology lists these as features of the rare conditions EOGT can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Cutis marmorata
- Abnormal pulmonary valve morphology
- Pulmonary artery atresia
- Tetralogy of Fallot
- An opening in the wall separating the top two chambers of the heart
- Arteriovenous malformation
- Hole in heart wall separating two lower heart chambers
- Increased blood pressure in blood vessels of lungs
Show 2 more traits
Abnormality of the integument
- Absence of part of skin at birth
- Absent/small skin
- Sparse hair
- Abnormal toenail development
- Underdeveloped toenails
- Absent fingernail
- Absent/small toenails
- Hair loss
Show 1 more trait
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.). EOGT gene: EGF domain specific O-linked N-acetylglucosamine transferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/eogt
Dante Labs. EOGT gene: EGF domain specific O-linked N-acetylglucosamine transferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eogt
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