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FOXB2 Gene

protein-coding GIFtS: 36
GCID: GC09P079634

Forkhead Box B2

See related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Forkhead Box B2¹ ²
bA159H20.4²
Forkhead Box Protein B2²

External Ids:	HGNC: 23315¹	Entrez Gene: 442425²	Ensembl: ENSG00000204612⁷	UniProtKB: Q5VYV0³

Export aliases for FOXB2 gene to outside databases

Previous GC identifers: GC09P078824 GC09P049465

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FOXB2 Gene:

FOXB2 (forkhead box B2) is a protein-coding gene. Diseases associated with FOXB2 include retinitis. GO annotations related to this gene include double-stranded DNA binding and sequence-specific DNA binding. An important paralog of this gene is FOXA2.

UniProtKB/Swiss-Prot: FOXB2_HUMAN, Q5VYV0

Function: Transcription factor (Probable)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000009.12 NC_018920.2 NT_008470.20

Regulatory elements:

Regulatory transcription factor binding sites in the FOXB2 gene promoter:
Sox5 HTF FOXL1 Nkx6-1 POU2F1 POU2F1b POU2F1a Chx10 POU2F1c Hlf
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for FOXB2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXB2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.2 Ensembl cytogenetic band: 9q21.2 HGNC cytogenetic band: 9q21.2

FOXB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXB2 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P079634: view genomic region (about GC identifiers)

Start:	79,634,571 bp from pter	End:	79,635,869 bp from pter
Size:	1,299 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FOXB2_HUMAN, Q5VYV0 (See protein sequence)

Recommended Name: Forkhead box protein B2

Size: 432 amino acids; 45581 Da

Explore the universe of human proteins at neXtProt for FOXB2: NX_Q5VYV0

Explore proteomics data for FOXB2 at MOPED

See FOXB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001013757.1

ENSEMBL proteins:

ENSP00000365898

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

FOX: Forkhead boxes

3 InterPro protein domains:

IPR011991 WHTH_DNA-bd_dom

IPR018122 TF_fork_head_CS

IPR001766 TF_fork_head

Graphical View of Domain Structure for InterPro Entry Q5VYV0

ProtoNet protein and cluster: Q5VYV0

UniProtKB/Swiss-Prot: FOXB2_HUMAN, Q5VYV0

Similarity: Contains 1 fork-head DNA-binding domain

FOXB2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: FOXB2_HUMAN, Q5VYV0

Function: Transcription factor (Probable)

Gene Ontology (GO): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003690	double-stranded DNA binding	IBA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IBA	--
GO:0008134	transcription factor binding	IBA	--
GO:0008301	DNA binding, bending	IBA	--

FOXB2 for ontologies About GeneDecksing

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

FOXB2_HUMAN, Q5VYV0: Nucleus (Probable)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	4

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005667	transcription factor complex	IBA	--

FOXB2 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for FOXB2
Interactions:

Search GeneGlobe Interaction Network for FOXB2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for FOXB2 (ENSP00000365898⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TCEB3	ENSP00000395574⁴	STRING: ENSP00000395574

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	--
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0006366	transcription from RNA polymerase II promoter	IBA	--
GO:0007389	pattern specification process	IBA	--
GO:0009790	embryo development	IBA	--

FOXB2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FOXB2 gene:

NM_001013735.1

Unigene Cluster for FOXB2:

Forkhead box B2

Hs.553843

Unigene Representative Sequence: NM_001013735

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000376708(uc004ako.1)

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GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FOXB2 expression in normal human tissues (normalized intensities) FOXB2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCGGTGCCCA

About this image

FOXB2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Brain (Nervous System) fully expand to see all 2 entries
Medulla Oblongata

FOXB2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

FOXB2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.553843

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for FOXB2 gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Foxb2⁵	forkhead box B2	--		19 (12.26 cM) 16872316
chicken (Gallus gallus)	Aves	FOXB2¹	forkhead box B2	80.58(n) 84.89(a)		100859806 XM_003643025.2 XP_003643073.2
lizard (Anolis carolinensis)	Reptilia	FOXB2⁶	forkhead box B2	76(a)	1 ↔ 1	2(45968406-45969179)
tropical clawed frog (Xenopus tropicalis)	Amphibia	foxb2¹	forkhead box B2	69.24(n) 76.14(a)		101730239 XM_004921443.1 XP_004921500.1
zebrafish (Danio rerio)	Actinopterygii	LOC559714¹	forkhead box protein B2-like	67.53(n) 71.22(a)		559714 XM_005162474.1 XP_005162531.1
fruit fly (Drosophila melanogaster)	Insecta	fd96Cb⁶ fd96Ca⁶	forkhead domain 96Ca	37(a) 33(a)	many ↔ many many ↔ many	3R(20920831-20921655) 3R(20909274-20910392)
worm (Caenorhabditis elegans)	Secernentea	lin-31⁶	Protein LIN-31 (lin-31) mRNA, complete cds	41(a)	1 → many	II(3982573-3986944) WBGene00003017

ENSEMBL Gene Tree for FOXB2 (if available)
TreeFam Gene Tree for FOXB2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for FOXB2 gene

FOXA2² FOXD4L1² FOXC2² FOXI2² FOXB1² FOXE3² FOXC1² FOXD4L2²

FOXD4L3² FOXA3² FOXD4L5² FOXD1² FOXD3² FOXD4L4² FOXA1² FOXE1²

FOXL1² FOXI1² FOXD4L6² FOXS1² FOXD2² FOXL2² FOXD4²

3 SIMAP similar genes for FOXB2 using alignment to 1 protein entry: FOXB2_HUMAN:

FOXA3 FOXA2 FOXB1

FOXB2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs183785350^1,2		--	79633025(+)	`TCACAG/TGCAGT`	1	--	us2k¹		0	--	--	--	--
rs73468337^1,2	C,F	--	79633057(+)	`TGAATT/CTGGCA`	1	--	us2k¹		2		WA	120
rs149508475^1,2		--	79633066(+)	`CATTTC/GGTGAA`	1	--	us2k¹		0	--	--	--	--
rs62568143^1,2	C,F	--	79633088(+)	`CTTTCC/TTCCCC`	1	--	us2k¹		1		NA	2
rs73468339^1,2	C,F	--	79633099(+)	`ATGAGT/GTTTTC`	1	--	us2k¹		2		WA	120
rs79367004^1,2	C	--	79633213(+)	`AAGGAG/TAGAGA`	1	--	us2k¹		4		CSA WA NA EA	360
rs73468341^1,2	C,F	--	79633225(+)	`GCTCAC/GAGCGA`	1	--	us2k¹		7		WA CSA NA EA	365
rs188325540^1,2		--	79633358(+)	`AGCTGA/CGGGAA`	1	--	us2k¹		0	--	--	--	--
rs193270070^1,2		--	79633392(+)	`CCCGGC/TGAACA`	1	--	us2k¹		0	--	--	--	--
rs12339279^1,2	C,F,H	--	79633464(+)	`TGGGTG/TGAGAG`	1	--	us2k¹		11		NS EA NA WA	1386

HapMap Linkage Disequilibrium report for FOXB2 (79634571 - 79635869 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for FOXB2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv831628	CNV	Gain	17160897
nsv893483	CNV	Gain	21882294
essv5453	CNV	CNV	17122850
dgv2390e1	CNV	Complex	17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for FOXB2: About MalaCards

retinitis

FOXB2 for disorders About GeneDecksing

Genetic Association Database (GAD): FOXB2

Export disorders for FOXB2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FOXB2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with FOXB2)

Utopia: connect your pdf to the dynamic
world of online information

DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (Nature 2004)
A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)⁴ Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 442425	HGNC: 23315	Ensembl:ENSG00000204612	euGenes: HUgn442425	ECgene: FOXB2
H-InvDB: FOXB2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FOXB2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FOXB2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FOXB2 gene:
Search GeneIP for patents involving FOXB2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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