FOXD4L4

Chr 9

forkhead box D4 like 4

Also known as: FOXD4L2, FOXD4b, bA460E7.2

NCBI Gene: 349334 ENSG00000184659 UniProt: Q8WXT5 OMIM: 611085

The protein is predicted to function as a DNA-binding transcription factor that regulates gene expression by RNA polymerase II and is involved in cell differentiation and anatomical structure development. Currently, no established human diseases have been definitively associated with mutations in this gene. The inheritance pattern for any potential disorders remains to be determined as clinical associations are still being investigated.

OMIM ResearchSummary from RefSeq

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FOXD4L4?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

222 rare PASS variants

Rare truncating (LoF)

1 in 2,300

35 rare PASS variants

Rare synonymous (reference)

1 in 250

110 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FOXD4L4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 280	1 in 2,200
South Asian	~43k	1 in 110	1 in 2,200
Remaining (unassigned)	~30k	1 in 120	1 in 6,000
European (Finnish)	~27k	1 in 1,900	none seen
Admixed American	~22k	1 in 130	1 in 950
African / African American	~21k	1 in 140	1 in 850
East Asian	~20k	1 in 89	1 in 3,900
Ashkenazi Jewish	~13k	1 in 430	none seen
Middle Eastern	~2,172	1 in 170	≈ 1 in 2,100

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