FOXD4L5

Chr 9

forkhead box D4 like 5

Also known as: bA15J10.2

NCBI Gene: 653427 ENSG00000204779 UniProt: Q5VV16

The protein functions as a DNA-binding transcription factor that regulates RNA polymerase II transcription and is involved in cell differentiation and anatomical structure morphogenesis. Based on the predicted dominant-negative mechanism, mutations in FOXD4L5 would likely cause disease through a dominant inheritance pattern, though specific associated neurological disorders have not yet been established. The pathogenic mechanism appears to involve disrupted transcriptional regulation due to the mutant protein interfering with normal transcription factor function.

ResearchSummary from RefSeq, Mechanism

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anatomical structure morphogenesis; cell differentiation; and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FOXD4L5?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 490

29 rare PASS variants

Rare truncating (LoF)

1 in 1,200

24 rare PASS variants

Rare synonymous (reference)

1 in 1,000

13 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FOXD4L5; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 580	1 in 1,100
South Asian	~43k	1 in 560	≈ 1 in 21,000
Remaining (unassigned)	~30k	1 in 740	1 in 860
European (Finnish)	~27k	1 in 1,700	1 in 2,000
Admixed American	~22k	1 in 1,300	1 in 2,200
African / African American	~21k	1 in 360	1 in 540
East Asian	~20k	≈ 1 in 17,000	≈ 1 in 9,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 0 of 1 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: 0 of 1 (exon 1 below).? see exons ↓