FOXD3 (forkhead box D3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27022
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box D3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXD3
Synonyms (NCBI Gene) Gene synonyms aliases
AIS1, Genesis, HFH2, VAMAS2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
Summary Summary of gene provided in NCBI Entrez 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]
miRNA miRNA information provided by mirtarbase database.
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 assay, Immunoprecipitaion (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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611539 3804 ENSG00000187140
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Aniridia aniridia N/A N/A GenCC
Autoimmune Diseases Autoimmune disease, susceptibility to, 1 N/A N/A ClinVar
Segment dysgenesis anterior segment dysgenesis N/A N/A GenCC
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease 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