FOXD2
Forkhead box protein D2
Also known as: FKHL17, FOXD2_HUMAN, FREAC9
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60548
- Gene
- FOXD2
- Ensembl
- ENSG00000186564
- Chromosome
- 1
- Canonical length
- 495 aa
- Protein class
- 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. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
495 residues, UniProt reviewed canonical sequence.
>O60548|FOXD2
1 MTLGSCCCEI MSSESSPAAL SEADADIDVV GGGSGGGELP ARSGPRAPRD VLPHGHEPPA
61 EEAEADLAED EEESGGCSDG EPRALASRGA AAAAGSPGPG AAAARGAAGP GPGPPSGGAA
121 TRSPLVKPPY SYIALITMAI LQSPKKRLTL SEICEFISGR FPYYREKFPA WQNSIRHNLS
181 LNDCFVKIPR EPGNPGKGNY WTLDPESADM FDNGSFLRRR KRFKRQPLPP PHPHPHPHPE
241 LLLRGGAAAA GDPGAFLPGF AAYGAYGYGY GLALPAYGAP PPGPAPHPHP HPHAFAFAAA
301 AAAAPCQLSV PPGRAAAPPP GPPTASVFAG AGSAPAPAPA SGSGPGPGPA GLPAFLGAEL
361 GCAKAFYAAS LSPPAAGTAA GLPTALLRQG LKTDAGGGAG GGGAGAGQRP SFSIDHIMGH
421 GGGGAAPPGA GEGSPGPPFA AAAGPGGQAQ VLAMLTAPAL APVAGHIRLS HPGDALLSSG
481 SRFASKVAGL SGCHFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXD2 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)
- 0.66
- Highest tissue expression
- 5.8 nTPM
Expression across tissuesHPA
Tissue
- colon: 5.8 nTPM
- blood vessel: 4.4 nTPM
- rectum: 4.3 nTPM
- kidney: 2.9 nTPM
- prostate: 1.9 nTPM
- pituitary gland: 1.7 nTPM
Single-cell type
- tuft cells: 46 nCPM
- podocytes: 33 nCPM
- colonocytes: 24 nCPM
- enteric stem cells: 17 nCPM
- enteric transient amplifying cells: 15 nCPM
- goblet cells: 13 nCPM
Immune cell
- neutrophil: 0.8 nTPM
- eosinophil: 0.5 nTPM
- gdT-cell: 0.5 nTPM
- MAIT T-cell: 0.4 nTPM
- memory CD8 T-cell: 0.4 nTPM
- basophil: 0.3 nTPM
Brain region
- choroid plexus: 4.9 nTPM
- midbrain: 3.3 nTPM
- cerebral cortex: 2.4 nTPM
- hypothalamus: 1.6 nTPM
- basal ganglia: 1.1 nTPM
- amygdala: 0.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FOXD2.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 91 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- See cases
- FOXD2-associated disorder
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)
- 1.31
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 1
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXD2 as an antibody target. Whether an autoantibody or antibody against FOXD2 could matter depends on whether native FOXD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXD2 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.
Annotation status
The present source text does not explicitly label FOXD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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