Gene
FGD1
FYVE, RhoGEF and PH domain containing 1
- HGNC 3663(opens in a new tab)
- Ensembl gene ENSG00000102302(opens in a new tab)
- NCBI Gene 2245(opens in a new tab)
Summary
- Cytogenetic location
- Xp11.22
- Coordinates
- Chromosome X: 54,445,454–54,496,234 (GRCh38)
- Exons
- 18 exons across 50.8 kb
- Protein
- 961 amino acids
- Also known as
- ZFYVE3
- Previous symbols
- FGDY
- MANE Select transcript
- ENST00000375135.4NM_004463.3
- 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 FGD1 yet. The test sequences your whole genome, so your data includes it all the same.
How FGD1 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 50.8 kb; 2,886 of those bases code for the protein.
How a genome test reads FGD1
40
positions in FGD1 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 50.8 kb of FGD1, introns included, not only the 4.3 kb of exons.
Traits linked to FGD1
The Human Phenotype Ontology lists these as features of the rare conditions FGD1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad philtrum
- High palate
- Little lower jaw
- Pointed chin
- Round face
- Short neck
- Wide nasal bridge
- Drooping lower lip
Show 22 more traits
- Long philtrum
- Nasal tip, upturned
- Short nose
- Abnormally small head
- Broad forehead
- Curved linear dimple below the lower lip
- Downward slanting of the opening between the eyelids
- Frontal bossing
- High frontal hairline
- Midface retrusion
- Relatively large head
- Widow's peak
- Abnormal dentition
- Bad bite
- Cleft of the mouth
- Cleft palate
- Cleft upper lip
- Decreased size of maxilla
- Delayed eruption of teeth
- Eye folds
- Skin tag in front of the ear
- Failure of development of between one and six teeth
Abnormality of the musculoskeletal system
- Double-Jointed
- Delayed bone maturation
- Permanent flexion of the finger or toe
- Abnormal cervical spine
- Abnormal vertebral segmentation and fusion
- Funnel chest
- Cervical spine hypermobility
- Hypoplasia of the odontoid process
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.). FGD1 gene: FYVE, RhoGEF and PH domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fgd1
Dante Labs. FGD1 gene: FYVE, RhoGEF and PH domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fgd1
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