FOXD3 (forkhead box D3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 27022
Gene name Forkhead box D3
Gene symbol FOXD3
Synonyms (NCBI Gene)
AIS1GenesisHFH2VAMAS2
Chromosome 1
Chromosome location 1p31.3
Summary 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]
miRNA miRNA information provided by mirtarbase database.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
miRTarBase ID miRNA Experiments Reference
MIRT017622 hsa-miR-335-5p Microarray 18185580
MIRT735740 hsa-miR-548d-3p Luciferase reporter assayImmunoprecipitaion (IP)RNA-seq 31937753
MIRT1001586 hsa-miR-3613-3p CLIP-seq
MIRT1001587 hsa-miR-3646 CLIP-seq
MIRT1001588 hsa-miR-3662 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 22306510
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin IDA 22306510
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 22306510
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611539 3804 ENSG00000187140
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJU5
Protein name Forkhead box protein D3 (HNF3/FH transcription factor genesis)
Protein function Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor (PubMed:11891324). Also acts as a transcriptional activator (PubMed:11891324). Negatively regulates transcription of transcriptional repressor RHIT/Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 140 → 226 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but not in any other cell lines or normal tissues examined. {ECO:0000269|PubMed:8499623}.
Sequence 
MTLSGGGSASDMSGQTVLTAEDVDIDVVGEGDDGLEEKDSDAGCDSPAGPPELRLDEADE
VPPAAPHHGQPQPPHQQPLTLPKEAAGAGAGPGGDVGAPEADGCKGGVGGEEGGASGGGP
GAGSGSAGGLAPSKPKNSLVKPPYSYIALITMAILQSPQKKLTLSGICEFISNRFPYYRE
KFPAWQNSIRHNLSLNDCFVKIPREPGNPGKGNYWTLDPQSEDMFDNGSFLRRRKRFKRH
QQEHLREQTALMMQSFGAYSLAAAAGAAGPYGRPYGLHPAAAAGAYSHPAAAAAAAAAAA
LQYPYALPPVAPVLPPAVPLLPSGELGRKAAAFGSQLGPGLQLQLNSLGAAAAAAGTAGA
AGTTASLIKSEPSARPSFSIENIIGGGPAAPGGSAVGAGVAGGTGGSGGGSTAQSFLRPP
GTVQSAALMATHQPLSLSRTTATIAPILSVPLSGQFLQPAASAAAAAAAAAQAKWPAQ
Sequence length 478
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune disease, susceptibility to, 1 risk factor rs41285370 RCV000000937
FOXD3-related disorder Uncertain significance; Likely benign; Benign rs2523547895, rs1299968330, rs2274188, rs968053644, rs758688806, rs202214846, rs2523550402 RCV003893752
RCV003901522
RCV003916856
RCV003947343
RCV003919491
RCV003937293
RCV003976754
Show/Hide Text Mining Associations (32)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune Diseases Associate 19727120
Bipolar Disorder Associate 37620425
Breast Neoplasms Inhibit 24551288
Breast Neoplasms Associate 28349825, 33760158
Carcinoma Ductal Breast Inhibit 24551288
Carcinoma Non Small Cell Lung Inhibit 30596382, 32924985
Carcinoma Non Small Cell Lung Associate 32196603
Colonic Diseases Associate 28851816
Colorectal Neoplasms Associate 28851816, 30987631, 39494294
Depressive Disorder Major Associate 18045927