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FOXD3 forkhead box D3 [ Homo sapiens (human) ]

Gene ID: 27022, updated on 23-Nov-2023

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; AllianceGenome:HGNC:3804
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
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Genomic context

See FOXD3 in Genome Data Viewer
Location:
1p31.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (63322567..63325128)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (63198232..63200793)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63788238..63790799)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 466 Neighboring gene uncharacterized LOC105378770 Neighboring gene RNA, 5S ribosomal pseudogene 49 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:63663717-63664472 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:63664473-63665227 Neighboring gene VISTA enhancer hs764 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:63727542 Neighboring gene ribosomal protein SA pseudogene 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63751744-63752272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63752273-63752802 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63764905-63765721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63788679-63789368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:63792285-63793153 Neighboring gene FOXD3 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63795855-63796783 Neighboring gene U7 small nuclear RNA Neighboring gene microRNA 6068

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
forkhead box protein D3
Names
HNF3/FH transcription factor genesis
autoimmune susceptibility 1

NCBI Reference Sequences (RefSeq)

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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
    4509..7070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012183.3NP_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
    Q9BYM2, Q9UDD1, Q9UJU5
    Related
    ENSP00000360157.2, ENST00000371116.4
    Conserved Domains (1) summary
    pfam00250
    Location:141227
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    63322567..63325128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    63198232..63200793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)