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Gene

FGD4

FYVE, RhoGEF and PH domain containing 4

Summary

Cytogenetic location
12p11.21
Coordinates
Chromosome 12: 32,399,558–32,646,050 (GRCh38)
Exons
17 exons across 246.5 kb
Protein
903 amino acids
Also known as
FRABP, frabin, ZFYVE6, CMT4H
MANE Select transcript
ENST00000534526.7NM_001370298.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        Actionability

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How FGD4 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 12, with a bracket where FGD4 sits. FGD4 and 4 genes near it on chromosome 12, from 32,022,804 to 33,022,803.Chromosome 1212p11.21p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3332.2 Mb32.4 Mb32.6 Mb32.8 Mb33 MbBICD1: 32,106,643–32,383,633, forward strandBICD1FGD4: 32,399,558–32,646,050, forward strandFGD4DNM1L: 32,679,200–32,745,650, forward strandDNM1LYARS2: 32,725,785–32,755,948, reverse strandYARS2PKP2: 32,790,745–32,896,819, reverse strandPKP2Diagram of FGD4: 17 exons on the forward strand of chromosome 12Exon 4: 3 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 5 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 1: 32,399,558–32,399,959, 402 basesExon 2: 32,564,137–32,564,289, 153 basesExon 3: 32,576,266–32,576,449, 184 basesExon 4: 32,581,960–32,582,467, 508 basesExon 5: 32,598,497–32,598,586, 90 basesExon 6: 32,601,278–32,601,423, 146 basesExon 7: 32,602,161–32,602,317, 157 basesExon 8: 32,607,957–32,608,095, 139 basesExon 9: 32,610,776–32,610,834, 59 basesExon 10: 32,611,137–32,611,283, 147 basesExon 11: 32,619,698–32,619,870, 173 basesExon 12: 32,624,422–32,624,452, 31 basesExon 13: 32,624,976–32,625,068, 93 basesExon 14: 32,625,654–32,625,779, 126 basesExon 15: 32,633,549–32,633,689, 141 basesExon 16: 32,638,655–32,638,795, 141 basesExon 17: 32,640,276–32,646,050, 5,775 bases151015175′3′

    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 8.5 kb of the gene's 246.5 kb; 2,712 of those bases code for the protein.

    Sequencing FGD4

    2Low

    How hard FGD4 is to sequence with short reads, out of 100

    • Mappability0%
    • Homology0%
    • Repeats3.3%
    • GC content12%
    • Reference coverage0%

    43

    positions in FGD4 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 246.5 kb of FGD4, introns included, not only the 8.5 kb of exons.

    Genes linked to the same conditions

    Traits linked to FGD4

    The Human Phenotype Ontology lists these as features of the rare conditions FGD4 can cause. Each trait's page lists the other genes linked to it.

    External links

    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.
    • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.18-e609d43e.

    Cite this page

    APA

    Dante Labs. (n.d.). FGD4 gene: FYVE, RhoGEF and PH domain containing 4. Retrieved 18 October 2026, from https://dantelabs.com/genes/fgd4

    Vancouver

    Dante Labs. FGD4 gene: FYVE, RhoGEF and PH domain containing 4 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/fgd4

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