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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANIRIDIA — ClinGen, Disgenet
ClinGen, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune disease, susceptibility to, 1 risk factor ClinVar
CTD, ClinVar
CTD, ClinVar
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (84)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 28799212, 28969495
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25894280
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28851816
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 28430585
★★★★★
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia GENOMICS_ENGLAND_DG 22815627
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 11912181, 19727120, 26267147
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 19727120 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 37620425 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer BEFREE 30303537
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24551288, 24632201, 26758370, 26785832, 28349825
★★★★★
★☆☆☆☆
Found in Text Mining only