FOXB1 forkhead box B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXB1provided by HGNC
Official Full Name: forkhead box B1provided by HGNC
Primary source: HGNC:HGNC:3799
See related: Ensembl:ENSG00000171956 MIM:619961; AllianceGenome:HGNC:3799
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: FKH5; HFKH-5
Summary: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including mammary gland development; nervous system development; and visual learning. Predicted to act upstream of or within spinal cord development; thalamus development; and urogenital system development. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (60004311..60007444)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (57805997..57809133)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (60296510..60299643)

Chromosome 15 - NC_000015.10 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

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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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 DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon target recognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration in diencephalon	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell differentiation involved in mammary gland alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in floor plate development	ISS Inferred from Sequence or Structural Similarity more info
involved_in hypothalamus cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in inferior colliculus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lactation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mammary gland lobule development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mammillary body development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mammillothalamic axonal tract development	ISS Inferred from Sequence or Structural Similarity more info
involved_in midbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in somitogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info
involved_in telencephalon cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in thalamus development	IEA Inferred from Electronic Annotation more info
involved_in urogenital system development	IEA Inferred from Electronic Annotation more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: forkhead box protein B1

Names: transcription factor FKH-5

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.