FOXD4
Forkhead box protein D4
Also known as: FKHL9, FOXD4_HUMAN, FOXD4a, FREAC5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12950
- Gene
- FOXD4
- Ensembl
- ENSG00000170122
- Chromosome
- 9
- Canonical length
- 439 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
439 residues, UniProt reviewed canonical sequence.
>Q12950|FOXD4
1 MNLPRAERLR STPQRSLRDS DGEDGKIDVL GEEEDEDEEE AASQQFLEQS LQPGLQVARW
61 GGVALPREHI EGGGGPSDPS EFGTEFRAPP RSAAASEDAR QPAKPPSSYI ALITMAILQS
121 PHKRLTLSGI CAFISDRFPY YRRKFPAWQN SIRHNLSLND CFVKIPREPG RPGKGNYWSL
181 DPASQDMFDN GSFLRRRKRF QRHQPTPGAH LPHPFPLPAA HAALHNPRPG PLLGAPAPPQ
241 PVPGAYPNTG PGRRPYALLH PHPPRYLLLS APAYAGAPKK AEGADLATPA PFPCCSPHLV
301 LSLGRRARVW RRHREADASL SALRVSCKGS GERVQGLRRV CPRPRGATAP CSSDRQACRT
361 ILQQQQRHQE EDCANGCAPT KGAVLGGHLS AASALLRYQA VAEGSGLTSL AAPLGGEGTS
421 PVFLVSPTPS SLAESAGPSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXD4 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)
- 0.64
- Highest tissue expression
- 2.7 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 2.7 nTPM
- testis: 1 nTPM
- cerebral cortex: 0.8 nTPM
- hypothalamus: 0.8 nTPM
- basal ganglia: 0.7 nTPM
- hippocampal formation: 0.7 nTPM
Single-cell type
- breast hormone-responsive cells: 0.7 nCPM
- leydig cells: 0.7 nCPM
- retinal amacrine cells: 0.7 nCPM
- brain excitatory neurons: 0.4 nCPM
- breast secretory cells: 0.4 nCPM
- lactotrophs: 0.4 nCPM
Immune cell
- eosinophil: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 2.1 nTPM
- cerebral cortex: 1.7 nTPM
- pons: 1.4 nTPM
- hippocampal formation: 1.3 nTPM
- thalamus: 1.3 nTPM
- hypothalamus: 1.2 nTPM
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)
- 1.9
- gnomAD pLI
- 0
- gnomAD missense Z
- -4.07
- DepMap mean gene effect
- -0.86
- DepMap dependency class
- common
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
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA binding, bending
- 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
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXD4 as an antibody target. Whether an autoantibody or antibody against FOXD4 could matter depends on whether native FOXD4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXD4 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 FOXD4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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