FOXD3
Forkhead box protein D3
Also known as: FOXD3_HUMAN, Genesis, HFH2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UJU5
- Gene
- FOXD3
- Ensembl
- ENSG00000187140
- Chromosome
- 1
- Canonical length
- 478 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
Canonical amino-acid sequenceUniProt
478 residues, UniProt reviewed canonical sequence.
>Q9UJU5|FOXD3
1 MTLSGGGSAS DMSGQTVLTA EDVDIDVVGE GDDGLEEKDS DAGCDSPAGP PELRLDEADE
61 VPPAAPHHGQ PQPPHQQPLT LPKEAAGAGA GPGGDVGAPE ADGCKGGVGG EEGGASGGGP
121 GAGSGSAGGL APSKPKNSLV KPPYSYIALI TMAILQSPQK KLTLSGICEF ISNRFPYYRE
181 KFPAWQNSIR HNLSLNDCFV KIPREPGNPG KGNYWTLDPQ SEDMFDNGSF LRRRKRFKRH
241 QQEHLREQTA LMMQSFGAYS LAAAAGAAGP YGRPYGLHPA AAAGAYSHPA AAAAAAAAAA
301 LQYPYALPPV APVLPPAVPL LPSGELGRKA AAFGSQLGPG LQLQLNSLGA AAAAAGTAGA
361 AGTTASLIKS EPSARPSFSI ENIIGGGPAA PGGSAVGAGV AGGTGGSGGG STAQSFLRPP
421 GTVQSAALMA THQPLSLSRT TATIAPILSV PLSGQFLQPA ASAAAAAAAA AQAKWPAQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 4.9 nTPM
Expression across tissuesHPA
Tissue
- colon: 4.9 nTPM
- heart muscle: 1.5 nTPM
- vagina: 1.4 nTPM
- blood vessel: 1.3 nTPM
- cervix: 1.3 nTPM
- prostate: 1.3 nTPM
Single-cell type
- schwann cells: 70 nCPM
- thymic myoid cells: 18 nCPM
- melanocytes: 15 nCPM
- epididymal clear cells: 2 nCPM
- breast myoepithelial cells: 1.7 nCPM
- early primary spermatocytes: 1.6 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 4.2 nTPM
- pons: 1 nTPM
- spinal cord: 0.5 nTPM
- hippocampal formation: 0.1 nTPM
- midbrain: 0.1 nTPM
- white matter: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FOXD3.
Disease | AllUniProt
Conditions FOXD3 is implicated in, by any mechanism.
- Autoimmune disease 1 (AIS1) MIM:607836
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.69
- gnomAD pLI
- 0.58
- gnomAD missense Z
- 0.95
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- cell differentiation
- in utero embryonic development
- negative regulation of transcription by RNA polymerase II
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FOXD3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXD3 as an antibody target. Whether an autoantibody or antibody against FOXD3 could matter depends on whether native FOXD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXD3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- Mutations in this gene cause autoimmune susceptibility 1.
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