Gene: Foxf2

Basic information

Tag Content
Uniprot ID O54743; B2RQI5; Q3V1L3; Q78DW1;
Entrez ID 14238
Genbank protein ID AAI37948.1; AAI37950.1; CAA72972.1; BAE21137.1; CAA72035.1;
Genbank nucleotide ID NM_010225.2
Ensembl protein ID ENSMUSP00000046789
Ensembl nucleotide ID ENSMUSG00000038402
Gene name Forkhead box protein F2
Gene symbol Foxf2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 12812790
Functional description Probable transcription activator for a number of lung-specific genes (PubMed:9676429). Mediates up-regulation of the E3 ligase IRF2BPL and drives ubiquitination and degradation of CTNNB1 (By similarity).
Sequence
MSTEGGPPPP PPRPPPAPLR RACSPAPGAL QAALMSPPPA ATLESTSSSS SSSSASCASS 60
SSNSVSASAG ACKSAASSGG AGAGSGGTKK ATSGLRRPEK PPYSYIALIV MAIQSSPSKR 120
LTLSEIYQFL QARFPFFRGA YQGWKNSVRH NLSLNECFIK LPKGLGRPGK GHYWTIDPAS 180
EFMFEEGSFR RRPRGFRRKC QALKPMYHRV VSGLGFGASL LPQGFDFQAP PSAPLGCHGQ 240
GGYGGLDMMP AGYDTGAGAP GHAHPHHLHH HHVPHMSPNP GSTYMASCPV PAGPAGVGAA 300
AGGGGGGGDY GPDSSSSPVP SSPAMASAIE CHSPYTSPAA HWSSPGASPY LKQPPALTPS 360
SNPAASAGLH PSMSSYSLEQ SYLHQNARED LSVGLPRYQH HSTPVCDRKD FVLNFNGISS 420
FHPSASGSYY HHHHQSVCQD IKPCVM 446

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFOXF2106503520A0A452FDA0Capra hircusPredictionMore>>
1:1 orthologFOXF22295Q12947Homo sapiensPublicationMore>>
1:1 orthologFoxf214238O54743CPOE14.5Mus musculusPublicationMore>>
1:1 orthologFOXF2750558H2R7P3Pan troglodytesPredictionMore>>
1:1 orthologFOXF2A0A287BDS9Sus scrofaPredictionMore>>
1:1 orthologFOXF2G1TU67Oryctolagus cuniculusPredictionMore>>
1:1 orthologfoxf2aF1QHL6Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
FOXF2rs1711968Single Nucleotide Polymorphism Selection; DNA; and Genotyping; Allelic transmission disequilibrium test26278207
FOXF2rs732835Single Nucleotide Polymorphism Selection; DNA; and Genotyping; Allelic transmission disequilibrium test26278207

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingISO
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificISO
GO:0003677 DNA bindingISO
GO:0003677 DNA bindingIDA
GO:0003700 DNA-binding transcription factor activityISO
GO:0003700 DNA-binding transcription factor activityIDA
GO:0008134 transcription factor bindingISO
GO:0043565 sequence-specific DNA bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0030198 extracellular matrix organizationIGI
GO:0030198 extracellular matrix organizationIMP
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic processISO
GO:0042249 establishment of planar polarity of embryonic epitheliumIGI
GO:0042249 establishment of planar polarity of embryonic epitheliumIMP
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0048566 embryonic digestive tract developmentIGI
GO:0048596 embryonic camera-type eye morphogenesisIMP
GO:0048806 genitalia developmentISO
GO:0060021 roof of mouth developmentISO
GO:1902914 regulation of protein polyubiquitinationISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005667 transcription factor complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0010 Activator
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS00657 FORK_HEAD_1
PS00658 FORK_HEAD_2
PS50039 FORK_HEAD_3

Pfam

Pfam ID Pfam Term
PF00250 Forkhead

Protein-miRNA interaction