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FOXD3 forkhead box D3 [ Homo sapiens (human) ]

Gene ID: 27022, updated on 12-Aug-2018

Summary

Official Symbol
FOXD3provided by HGNC
Official Full Name
forkhead box D3provided by HGNC
Primary source
HGNC:HGNC:3804
See related
Ensembl:ENSG00000187140 MIM:611539; Vega:OTTHUMG00000009141
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIS1; HFH2; VAMAS2; Genesis
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]
Orthologs

Genomic context

See FOXD3 in Genome Data Viewer
Location:
1p31.3
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (63323059..63325126)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63788730..63790797)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 466 Neighboring gene VISTA enhancer hs764 Neighboring gene ribosomal protein SA pseudogene 65 Neighboring gene FOXD3 antisense RNA 1 Neighboring gene microRNA 6068 Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystem (from REACTOME)
    POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
  • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
somatic stem cell population maintenance TAS
Traceable Author Statement
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
forkhead box protein D3
Names
HNF3/FH transcription factor genesis

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012220.1 RefSeqGene

    Range
    5001..7068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012183.2NP_036315.1  forkhead box protein D3

    See identical proteins and their annotated locations for NP_036315.1

    Status: REVIEWED

    Source sequence(s)
    AF086235, AL049636
    Consensus CDS
    CCDS624.1
    UniProtKB/Swiss-Prot
    Q9UJU5
    Related
    ENSP00000360157.2, OTTHUMP00000010713, ENST00000371116.3, OTTHUMT00000025331
    Conserved Domains (1) summary
    pfam00250
    Location:141227
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    63323059..63325126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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