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Protein

Forkhead box protein P2

Gene

FOXP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri346 – 371C2H2-typeAdd BLAST26
DNA bindingi504 – 594Fork-headPROSITE-ProRule annotationAdd BLAST91

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiO15409

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein P2
Alternative name(s):
CAG repeat protein 44
Trinucleotide repeat-containing gene 10 protein
Gene namesi
Name:FOXP2
Synonyms:CAGH44, TNRC10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000128573.23
HGNCiHGNC:13875 FOXP2
MIMi605317 gene
neXtProtiNX_O15409

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Speech-language disorder 1 (SPCH1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes.
See also OMIM:602081
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012278553R → H in SPCH1. 1 PublicationCorresponds to variant dbSNP:rs121908377EnsemblClinVar.1
A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi93986
MalaCardsiFOXP2
MIMi602081 phenotype
OpenTargetsiENSG00000128573
Orphaneti251061 7q31 microdeletion syndrome
209908 Childhood apraxia of speech
PharmGKBiPA28242

Polymorphism and mutation databases

BioMutaiFOXP2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918791 – 715Forkhead box protein P2Add BLAST715

Proteomic databases

PaxDbiO15409
PeptideAtlasiO15409
PRIDEiO15409

PTM databases

iPTMnetiO15409
PhosphoSitePlusiO15409

Expressioni

Tissue specificityi

Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.1 Publication

Developmental stagei

Expressed in the brain at 15 and 22 weeks of gestation, with a pattern of strong cortical, basal ganglia, thalamic and cerebellar expression. Highly expressed in the head and tail of nucleus caudatus and putamen. Restricted expression within the globus pallidus, with high levels in the pars interna, which provides the principal source of output from the basal ganglia to the nucleus centrum medianum thalami (CM) and the major motor relay nuclei of the thalamus. In the thalamus, present in the CM and nucleus medialis dorsalis thalami. Lower levels are observed in the nuclei anterior thalami, dorsal and ventral, and the nucleus parafascicularis thalami. Expressed in the ventrobasal complex comprising the nucleus ventralis posterior lateralis/medialis. The ventral tier of the thalamus exhibits strong expression, including nuclei ventralis anterior, lateralis and posterior lateralis pars oralis. Also expressed in the nucleus subthalamicus bilaterally and in the nucleus ruber.1 Publication

Gene expression databases

BgeeiENSG00000128573
ExpressionAtlasiO15409 baseline and differential
GenevisibleiO15409 HS

Organism-specific databases

HPAiHPA000382
HPA000383
HPA001679

Interactioni

Subunit structurei

Forms homodimers and heterodimers with FOXP1 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1 (By similarity). Interacts with FOXP1 (PubMed:26647308).By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi125073, 28 interactors
DIPiDIP-29004N
IntActiO15409, 15 interactors
MINTiO15409
STRINGi9606.ENSP00000386200

Structurei

Secondary structure

1715
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi509 – 519Combined sources11
Helixi527 – 541Combined sources15
Helixi545 – 558Combined sources14
Beta strandi562 – 567Combined sources6
Beta strandi568 – 572Combined sources5
Helixi577 – 583Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2A07X-ray1.90F/G/H/I/J/K502-594[»]
2AS5X-ray2.70F/G502-594[»]
ProteinModelPortaliO15409
SMRiO15409
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15409

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni388 – 409Leucine-zipperAdd BLAST22
Regioni422 – 426CTBP1-bindingBy similarity5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi53 – 268Gln-richAdd BLAST216

Domaini

The leucine-zipper is required for dimerization and transcriptional repression.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri346 – 371C2H2-typeAdd BLAST26

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG4385 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00910000144016
HOGENOMiHOG000092089
HOVERGENiHBG051657
InParanoidiO15409
KOiK09409
OMAiETKLCVC
PhylomeDBiO15409
TreeFamiTF326978

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR032354 FOXP-CC
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PF16159 FOXP-CC, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 1 hit

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O15409-1) [UniParc]FASTAAdd to basket
Also known as: I

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL
60 70 80 90 100
HLQQQQALQA ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT
110 120 130 140 150
PQQMQQILQQ QVLSPQQLQA LLQQQQAVML QQQQLQEFYK KQQEQLHLQL
160 170 180 190 200
LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QHPGKQAKEQ
210 220 230 240 250
QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG LISIPPGQAA
260 270 280 290 300
LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT
310 320 330 340 350
SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW
360 370 380 390 400
PGCESICEDF GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE
410 420 430 440 450
RLQAMMTHLH MRPSEPKPSP KPLNLVSSVT MSKNMLETSP QSLPQTPTTP
460 470 480 490 500
TAPVTPITQG PSVITPASVP NVGAIRRRHS DKYNIPMSSE IAPNYEFYKN
510 520 530 540 550
ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY FRRNAATWKN
560 570 580 590 600
AVRHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT
610 620 630 640 650
SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD
660 670 680 690 700
HIDSNGNSSP GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE
710
DDREIEEEPL SEDLE
Length:715
Mass (Da):79,919
Last modified:December 5, 2001 - v2
Checksum:i4F9FBDB6D90516E0
GO
Isoform 2 (identifier: O15409-3)
Also known as: II
Sequence is not available
Length:
Mass (Da):
Isoform 3 (identifier: O15409-2) [UniParc]FASTAAdd to basket
Also known as: III, IV

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.

Show »
Length:623
Mass (Da):70,104
Checksum:iF78EA67F33A3AE05
GO
Isoform 4 (identifier: O15409-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-86: Q → QELLPETKLCICGHSSGDGHPHNTFA

Show »
Length:740
Mass (Da):82,565
Checksum:i423EC421368FCD94
GO
Isoform 5 (identifier: O15409-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-86: Q → QELLPETKLCICGHSSGDGHPHNTFA
     133-143: QQLQEFYKKQQ → VMWVTCFGVLA
     144-715: Missing.

Show »
Length:168
Mass (Da):18,315
Checksum:i61B297B4D64BC670
GO
Isoform 6 (identifier: O15409-6) [UniParc]FASTAAdd to basket
Also known as: FOXP2-S

The sequence of this isoform differs from the canonical sequence as follows:
     423-432: LNLVSSVTMS → VSAYCFINSK
     433-715: Missing.

Show »
Length:432
Mass (Da):48,764
Checksum:i42BC7890ACAF498C
GO
Isoform 7 (identifier: O15409-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     366-715: Missing.

Show »
Length:365
Mass (Da):40,969
Checksum:i0B052282E2E30771
GO
Isoform 8 (identifier: O15409-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-87: V → P
     88-715: Missing.

Note: No experimental confirmation available.
Show »
Length:87
Mass (Da):9,377
Checksum:i624274B876E062E4
GO
Isoform 9 (identifier: O15409-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-132: Q → QDFLDSGLENFRAALEKN

Note: No experimental confirmation available.
Show »
Length:732
Mass (Da):81,840
Checksum:i8B72F946ABD821EE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29A → V in AAM60762 (PubMed:12189486).Curated1
Sequence conflicti134Q → H in AAB91439 (PubMed:9225980).Curated1
Sequence conflicti290 – 304DLTTN…TSSNT → EEFPVQGPAAVCAGL in AAB91439 (PubMed:9225980).CuratedAdd BLAST15
Sequence conflicti414S → L in AAM60766 (PubMed:12189486).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012278553R → H in SPCH1. 1 PublicationCorresponds to variant dbSNP:rs121908377EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0015581 – 92Missing in isoform 3. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_01153286Q → QELLPETKLCICGHSSGDGH PHNTFA in isoform 4 and isoform 5. 2 Publications1
Alternative sequenceiVSP_01153387V → P in isoform 8. 1 Publication1
Alternative sequenceiVSP_01153488 – 715Missing in isoform 8. 1 PublicationAdd BLAST628
Alternative sequenceiVSP_043464132Q → QDFLDSGLENFRAALEKN in isoform 9. 1 Publication1
Alternative sequenceiVSP_011535133 – 143QQLQEFYKKQQ → VMWVTCFGVLA in isoform 5. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_011536144 – 715Missing in isoform 5. 1 PublicationAdd BLAST572
Alternative sequenceiVSP_011537366 – 715Missing in isoform 7. 1 PublicationAdd BLAST350
Alternative sequenceiVSP_011538423 – 432LNLVSSVTMS → VSAYCFINSK in isoform 6. 1 Publication10
Alternative sequenceiVSP_011539433 – 715Missing in isoform 6. 1 PublicationAdd BLAST283

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF337817 mRNA Translation: AAL10762.1
AF467252 mRNA Translation: AAM60762.1
AF467253 mRNA Translation: AAM60763.1
AF467254 mRNA Translation: AAM60764.1
AF467255 mRNA Translation: AAM60765.1
AF467256 mRNA Translation: AAM60766.1
AF467257 mRNA Translation: AAM60767.1
AF493430 mRNA Translation: AAM13672.1
AY144615 mRNA Translation: AAN60016.1
AK131266 mRNA Translation: BAD18444.1 Sequence problems.
AK296957 mRNA Translation: BAG59501.1
AC003992 Genomic DNA Translation: AAS07399.1
AC020606 Genomic DNA Translation: AAS07502.1
AC073626 Genomic DNA No translation available.
AC074000 Genomic DNA No translation available.
AC092148 Genomic DNA No translation available.
AC092606 Genomic DNA No translation available.
CH236947 Genomic DNA Translation: EAL24367.1
CH236947 Genomic DNA Translation: EAL24369.1
CH471070 Genomic DNA Translation: EAW83484.1
CH471070 Genomic DNA Translation: EAW83486.1
BC126104 mRNA Translation: AAI26105.1
BC143866 mRNA Translation: AAI43867.1
U80741 mRNA Translation: AAB91439.1
AF515031 Genomic DNA Translation: AAN03389.1
AF515032 Genomic DNA Translation: AAN03390.1
AF515033 Genomic DNA Translation: AAN03391.1
AF515034 Genomic DNA Translation: AAN03392.1
AF515035 Genomic DNA Translation: AAN03393.1
AF515036 Genomic DNA Translation: AAN03394.1
AF515037 Genomic DNA Translation: AAN03395.1
AF515038 Genomic DNA Translation: AAN03396.1
AF515039 Genomic DNA Translation: AAN03397.1
AF515040 Genomic DNA Translation: AAN03398.1
AF515041 Genomic DNA Translation: AAN03399.1
AF515042 Genomic DNA Translation: AAN03400.1
AF515043 Genomic DNA Translation: AAN03401.1
AF515044 Genomic DNA Translation: AAN03402.1
AF515045 Genomic DNA Translation: AAN03403.1
AF515046 Genomic DNA Translation: AAN03404.1
AF515047 Genomic DNA Translation: AAN03405.1
AF515048 Genomic DNA Translation: AAN03406.1
AF515049 Genomic DNA Translation: AAN03407.1
AF515050 Genomic DNA Translation: AAN03408.1
CCDSiCCDS43635.1 [O15409-4]
CCDS55154.1 [O15409-9]
CCDS5760.1 [O15409-1]
CCDS5761.2 [O15409-6]
RefSeqiNP_001166237.1, NM_001172766.2
NP_001166238.1, NM_001172767.2
NP_055306.1, NM_014491.3 [O15409-1]
NP_683696.2, NM_148898.3 [O15409-4]
NP_683697.2, NM_148899.3 [O15409-6]
NP_683698.2, NM_148900.3 [O15409-9]
XP_016868290.1, XM_017012801.1 [O15409-4]
UniGeneiHs.282787

Genome annotation databases

EnsembliENST00000350908; ENSP00000265436; ENSG00000128573 [O15409-1]
ENST00000360232; ENSP00000353367; ENSG00000128573 [O15409-6]
ENST00000378237; ENSP00000367482; ENSG00000128573 [O15409-7]
ENST00000393489; ENSP00000377129; ENSG00000128573 [O15409-2]
ENST00000393494; ENSP00000377132; ENSG00000128573 [O15409-1]
ENST00000403559; ENSP00000385069; ENSG00000128573 [O15409-9]
ENST00000408937; ENSP00000386200; ENSG00000128573 [O15409-4]
ENST00000412402; ENSP00000405470; ENSG00000128573 [O15409-8]
ENST00000441290; ENSP00000416825; ENSG00000128573 [O15409-8]
ENST00000635109; ENSP00000489457; ENSG00000128573 [O15409-8]
GeneIDi93986
KEGGihsa:93986
UCSCiuc003vgx.3 human [O15409-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiFOXP2_HUMAN
AccessioniPrimary (citable) accession number: O15409
Secondary accession number(s): A0AUV6
, A4D0U8, A6NNW4, B4DLD9, Q6ZND1, Q75MJ3, Q8IZE0, Q8N0W2, Q8N6B7, Q8N6B8, Q8NFQ1, Q8NFQ2, Q8NFQ3, Q8NFQ4, Q8TD74
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: December 5, 2001
Last modified: May 23, 2018
This is version 181 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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