FOXO3B forkhead box O3B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXO3Bprovided by HGNC
Official Full Name: forkhead box O3Bprovided by HGNC
Primary source: HGNC:HGNC:3822
See related: Ensembl:ENSG00000240445 MIM:620471; AllianceGenome:HGNC:3822
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNF286C; FKHRL1P1
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrial matrix. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 17p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18667629..18682314, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18614453..18629134, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18570942..18585627, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

human FOXO3B locus encodes a bona fide human gene; unlike FOXO3A, FOXO3B is cytosolically localized in both the presence and absence of active Akt
Title: A splice junction-targeted CRISPR approach (spJCRISPR) reveals human FOXO3B to be a protein-coding gene.
our results clearly show that, for reliable genetic investigation of FOXO3A exonic regions, a special study design is mandatory accounting for the FOXO3B sequence homology
Title: Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2019 (e-PCR)
- UniSTS:22047

RH75343 (e-PCR)
- UniSTS:85845

FOXO3A_4088 (e-PCR)
- UniSTS:464480

MARC_14315-14316:1007670343:1 (e-PCR)
- UniSTS:267641

RH78823 (e-PCR)
- UniSTS:89240

D17S1454E (e-PCR)
- UniSTS:150494

RH65484 (e-PCR)
- UniSTS:54240

RH67795 (e-PCR)
- UniSTS:92406

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
colocalizes_with mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: forkhead box protein O3B

Names: forkhead box O3B (pseudogene); forkhead(Drosophila) homolog (rhabdomyosarcoma) 1 like pseudogene 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.

mRNA and Protein(s)

NM_001368134.1 → NP_001355063.1 forkhead box protein O3B

Status: VALIDATED

Source sequence(s)

AC026271

Consensus CDS

CCDS92269.1

UniProtKB/Swiss-Prot

A0A2Z4LIS9

Conserved Domains (1) summary

cl00061
Location:242 → 282

FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
NM_001368135.1 → NP_001355064.1 forkhead box protein O3B

Status: VALIDATED

Source sequence(s)

AC026271

Consensus CDS

CCDS92269.1

UniProtKB/Swiss-Prot

A0A2Z4LIS9

Related

ENSP00000499455.1, ENST00000395675.7

Conserved Domains (1) summary

cl00061
Location:242 → 282

FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

18667629..18682314 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

18614453..18629134 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_001119.1: Suppressed sequence

Description

NG_001119.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
NR_026718.1: Suppressed sequence

Description

NR_026718.1: This RefSeq was removed because currently it is thought that this locus is protein-coding and there is insufficient evidence for this transcript.