O15409 (FOXP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Forkhead box protein P2

Alternative name(s):
CAG repeat protein 44
Trinucleotide repeat-containing gene 10 protein

Gene names

Name:	FOXP2
Synonyms:	CAGH44, TNRC10

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	715 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Involved in neural mechanisms mediating the development of speech and language.
Subunit structure	Forms homodimers and heterodimers with FOXP1 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1 By similarity.
Subcellular location	Nucleus Probable.
Tissue specificity	Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung. Ref.2
Developmental stage	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. Ref.12
Domain	The leucine-zipper is required for dimerization and transcriptional repression By similarity.
Involvement in disease	Speech-language disorder 1 (SPCH1) [MIM:602081]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).
Sequence similarities	Contains 1 C2H2-type zinc finger. Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Disease mutation
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Repressor
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	camera-type eye development Inferred from Biological aspect of Ancestor. Source: RefGenome caudate nucleus development Inferred from mutant phenotype PubMed 11872605. Source: UniProtKB cerebellum development Inferred from Biological aspect of Ancestor. Source: RefGenome cerebral cortex development Inferred from expression pattern PubMed 18987363. Source: BHF-UCL embryo development Inferred from Biological aspect of Ancestor. Source: RefGenome growth Inferred from Biological aspect of Ancestor. Source: RefGenome lung alveolus development Inferred from Biological aspect of Ancestor. Source: RefGenome negative regulation of transcription, DNA-dependent Inferred from direct assay PubMed 18987363. Source: BHF-UCL pattern specification process Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of epithelial cell proliferation involved in lung morphogenesis Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of mesenchymal cell proliferation Inferred from Biological aspect of Ancestor. Source: RefGenome post-embryonic development Inferred from Biological aspect of Ancestor. Source: RefGenome putamen development Inferred from mutant phenotype PubMed 11872605. Source: UniProtKB regulation of sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome righting reflex Inferred from Biological aspect of Ancestor. Source: RefGenome skeletal muscle tissue development Inferred from Biological aspect of Ancestor. Source: RefGenome smooth muscle tissue development Inferred from Biological aspect of Ancestor. Source: RefGenome vocal learning Inferred from Biological aspect of Ancestor. Source: RefGenome
Cellular_component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome transcription factor complex Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	DNA binding, bending Inferred from Biological aspect of Ancestor. Source: RefGenome RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome chromatin binding Inferred from Biological aspect of Ancestor. Source: RefGenome double-stranded DNA binding Inferred from Biological aspect of Ancestor. Source: RefGenome protein heterodimerization activity Inferred from Biological aspect of Ancestor. Source: RefGenome protein homodimerization activity Inferred from direct assay PubMed 16407075. Source: UniProtKB sequence-specific DNA binding Inferred from direct assay PubMed 18987363. Source: BHF-UCL transcription factor binding Inferred from Biological aspect of Ancestor. Source: RefGenome zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 9 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15409-1)

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.

Isoform 2 (identifier: O15409-3)

Also known as: II;

The sequence of this isoform is not available.

Isoform 3 (identifier: O15409-2)

Also known as: III; IV;

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

Isoform 4 (identifier: O15409-4)

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

Isoform 5 (identifier: O15409-5)

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

Isoform 6 (identifier: O15409-6)

Also known as: FOXP2-S;

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

Isoform 7 (identifier: O15409-7)

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

Isoform 8 (identifier: O15409-8)

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

Note: No experimental confirmation available.

Isoform 9 (identifier: O15409-9)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 715

715

Forkhead box protein P2

PRO_0000091879

Regions

Zinc finger

346 – 371

26

C2H2-type

DNA binding

504 – 594

91

Fork-head

Region

388 – 409

22

Leucine-zipper

Region

422 – 426

5

CTBP1-binding By similarity

Compositional bias

53 – 268

216

Gln-rich

Natural variations

Alternative sequence

1 – 92

92

Missing in isoform 3.

VSP_001558

Alternative sequence

86

1

Q → QELLPETKLCICGHSSGDGH PHNTFA in isoform 4 and isoform 5.

VSP_011532

Alternative sequence

87

1

V → P in isoform 8.

VSP_011533

Alternative sequence

88 – 715

628

Missing in isoform 8.

VSP_011534

Alternative sequence

132

1

Q → QDFLDSGLENFRAALEKN in isoform 9.

VSP_043464

Alternative sequence

133 – 143

11

QQLQEFYKKQQ → VMWVTCFGVLA in isoform 5.

VSP_011535

Alternative sequence

144 – 715

572

Missing in isoform 5.

VSP_011536

Alternative sequence

366 – 715

350

Missing in isoform 7.

VSP_011537

Alternative sequence

423 – 432

10

LNLVSSVTMS → VSAYCFINSK in isoform 6.

VSP_011538

Alternative sequence

433 – 715

283

Missing in isoform 6.

VSP_011539

Natural variant

553

1

R → H in SPCH1. Ref.1

VAR_012278

Experimental info

Sequence conflict

29

1

A → V in AAM60762. Ref.2

Sequence conflict

134

1

Q → H in AAB91439. Ref.10

Sequence conflict

290 – 304

15

DLTTN…TSSNT → EEFPVQGPAAVCAGL in AAB91439. Ref.10

Sequence conflict

414

1

S → L in AAM60766. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

715

Helix Strand Turn

Details...

Helix

509 – 519

11

Helix

527 – 541

15

Helix

545 – 558

14

Beta strand

562 – 567

6

Beta strand

568 – 572

5

Helix

577 – 583

7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (I) [UniParc]. Last modified December 5, 2001. Version 2. Checksum: 4F9FBDB6D90516E0	FASTA	715	79,919
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 90 100 110 120 ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA 130 140 150 160 170 180 LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 190 200 210 220 230 240 QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG 250 260 270 280 290 300 LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT 310 320 330 340 350 360 SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF 370 380 390 400 410 420 GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP 430 440 450 460 470 480 KPLNLVSSVT MSKNMLETSP QSLPQTPTTP TAPVTPITQG PSVITPASVP NVGAIRRRHS 490 500 510 520 530 540 DKYNIPMSSE IAPNYEFYKN ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY 550 560 570 580 590 600 FRRNAATWKN AVRHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT 610 620 630 640 650 660 SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD HIDSNGNSSP 670 680 690 700 710 GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE DDREIEEEPL SEDLE
	Isoform 2 (II) (Sequence not available).		–	–
	Isoform 3 (III) (IV) [UniParc]. Checksum: F78EA67F33A3AE05	FASTA	623	70,104
	10 20 30 40 50 60 MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ QQLQEFYKKQ QEQLHLQLLQ 70 80 90 100 110 120 QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA 130 140 150 160 170 180 QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE 190 200 210 220 230 240 VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS 250 260 270 280 290 300 HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE 310 320 330 340 350 360 IQLSKERERL QAMMTHLHMR PSEPKPSPKP LNLVSSVTMS KNMLETSPQS LPQTPTTPTA 370 380 390 400 410 420 PVTPITQGPS VITPASVPNV GAIRRRHSDK YNIPMSSEIA PNYEFYKNAD VRPPFTYATL 430 440 450 460 470 480 IRQAIMESSD RQLTLNEIYS WFTRTFAYFR RNAATWKNAV RHNLSLHKCF VRVENVKGAV 490 500 510 520 530 540 WTVDEVEYQK RRSQKITGSP TLVKNIPTSL GYGAALNASL QAALAESSLP LLSNPGLINN 550 560 570 580 590 600 ASSGLLQAVH EDLNGSLDHI DSNGNSSPGC SPQPHIHSIH VKEEPVIAED EDCPMSLVTT 610 620 ANHSPELEDD REIEEEPLSE DLE
	Isoform 4 [UniParc]. Checksum: 423EC421368FCD94	FASTA	740	82,565
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 90 100 110 120 ARQLLLQQQT SGLKSPKSSD KQRPLQELLP ETKLCICGHS SGDGHPHNTF AVPVSVAMMT 130 140 150 160 170 180 PQVITPQQMQ QILQQQVLSP QQLQALLQQQ QAVMLQQQQL QEFYKKQQEQ LHLQLLQQQQ 190 200 210 220 230 240 QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQHPGK QAKEQQQQQQ QQQQLAAQQL 250 260 270 280 290 300 VFQQQLLQMQ QLQQQQHLLS LQRQGLISIP PGQAALPVQS LPQAGLSPAE IQQLWKEVTG 310 320 330 340 350 360 VHSMEDNGIK HGGLDLTTNN SSSTTSSNTS KASPPITHHS IVNGQSSVLS ARRDSSSHEE 370 380 390 400 410 420 TGASHTLYGH GVCKWPGCES ICEDFGQFLK HLNNEHALDD RSTAQCRVQM QVVQQLEIQL 430 440 450 460 470 480 SKERERLQAM MTHLHMRPSE PKPSPKPLNL VSSVTMSKNM LETSPQSLPQ TPTTPTAPVT 490 500 510 520 530 540 PITQGPSVIT PASVPNVGAI RRRHSDKYNI PMSSEIAPNY EFYKNADVRP PFTYATLIRQ 550 560 570 580 590 600 AIMESSDRQL TLNEIYSWFT RTFAYFRRNA ATWKNAVRHN LSLHKCFVRV ENVKGAVWTV 610 620 630 640 650 660 DEVEYQKRRS QKITGSPTLV KNIPTSLGYG AALNASLQAA LAESSLPLLS NPGLINNASS 670 680 690 700 710 720 GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ PHIHSIHVKE EPVIAEDEDC PMSLVTTANH 730 740 SPELEDDREI EEEPLSEDLE
	Isoform 5 [UniParc]. Checksum: 61B297B4D64BC670	FASTA	168	18,315
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 90 100 110 120 ARQLLLQQQT SGLKSPKSSD KQRPLQELLP ETKLCICGHS SGDGHPHNTF AVPVSVAMMT 130 140 150 160 PQVITPQQMQ QILQQQVLSP QQLQALLQQQ QAVMLQQVMW VTCFGVLA
	Isoform 6 (FOXP2-S) [UniParc]. Checksum: 42BC7890ACAF498C	FASTA	432	48,764
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 90 100 110 120 ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA 130 140 150 160 170 180 LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 190 200 210 220 230 240 QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG 250 260 270 280 290 300 LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT 310 320 330 340 350 360 SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF 370 380 390 400 410 420 GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP 430 KPVSAYCFIN SK
	Isoform 7 [UniParc]. Checksum: 0B052282E2E30771	FASTA	365	40,969
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 90 100 110 120 ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA 130 140 150 160 170 180 LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 190 200 210 220 230 240 QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG 250 260 270 280 290 300 LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT 310 320 330 340 350 360 SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF GQFLK
	Isoform 8 [UniParc]. Checksum: 624274B876E062E4	FASTA	87	9,377
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 ARQLLLQQQT SGLKSPKSSD KQRPLQP
	Isoform 9 [UniParc]. Checksum: 8B72F946ABD821EE	FASTA	732	81,840
	10 20 30 40 50 60 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 70 80 90 100 110 120 ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA 130 140 150 160 170 180 LLQQQQAVML QQDFLDSGLE NFRAALEKNQ QLQEFYKKQQ EQLHLQLLQQ QQQQQQQQQQ 190 200 210 220 230 240 QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQHP GKQAKEQQQQ QQQQQQLAAQ QLVFQQQLLQ 250 260 270 280 290 300 MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP AEIQQLWKEV TGVHSMEDNG 310 320 330 340 350 360 IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV LSARRDSSSH EETGASHTLY 370 380 390 400 410 420 GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV QMQVVQQLEI QLSKERERLQ 430 440 450 460 470 480 AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL PQTPTTPTAP VTPITQGPSV 490 500 510 520 530 540 ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV RPPFTYATLI RQAIMESSDR 550 560 570 580 590 600 QLTLNEIYSW FTRTFAYFRR NAATWKNAVR HNLSLHKCFV RVENVKGAVW TVDEVEYQKR 610 620 630 640 650 660 RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL LSNPGLINNA SSGLLQAVHE 670 680 690 700 710 720 DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE DCPMSLVTTA NHSPELEDDR 730 EIEEEPLSED LE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A forkhead-domain gene is mutated in a severe speech and language disorder." Lai C.S.L., Fisher S.E., Hurst J.A., Vargha-Khadem F., Monaco A.P. Nature 413:519-523(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANT SPCH1 HIS-553.
[2]	"FOXP2: novel exons, splice variants, and CAG repeat length stability." Bruce H.A., Margolis R.L. Hum. Genet. 111:136-144(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), NUCLEOTIDE SEQUENCE [MRNA] OF 1-415 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 259-715 (ISOFORM 6), TISSUE SPECIFICITY. Tissue: Brain, Corpus striatum, Fetal brain and Frontal cortex.
[3]	Vincent J.B., Scherer S.W. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
[4]	Guo J.H., Chen L., Yu L. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Brain.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 8 AND 9). Tissue: Tongue.
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[10]	"cDNAs with long CAG trinucleotide repeats from human brain." Margolis R.L., Abraham M.R., Gatchell S.B., Li S.-H., Kidwai A.S., Breschel T.S., Stine O.C., Callahan C., McInnis M.G., Ross C.A. Hum. Genet. 100:114-122(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-304 (ISOFORM 1). Tissue: Brain cortex.
[11]	"Molecular evolution of FOXP2, a gene involved in speech and language." Enard W., Przeworski M., Fisher S.E., Lai C.S.L., Wiebe V., Kitano T., Monaco A.P., Paeaebo S. Nature 418:869-872(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 113-329.
[12]	"Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction." Teramitsu I., Kudo L.C., London S.E., Geschwind D.H., White S.A. J. Neurosci. 24:3152-3163(2004) [PubMed] [Europe PMC] [Abstract] Cited for: DEVELOPMENTAL STAGE.
+	Additional computationally mapped references.

Web resources

Protein Spotlight

Talking heads - Issue 51 of October 2004

GeneReviews

Wikipedia

FOXP2 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00215632.
IPI00288960.
IPI00382947.
IPI00383604.
IPI00454591.
IPI00454592.
IPI00879217.
IPI00940557.

RefSeq

NP_001166237.1. NM_001172766.2.
NP_001166238.1. NM_001172767.2.
NP_055306.1. NM_014491.3.
NP_683696.2. NM_148898.3.
NP_683697.2. NM_148899.3.
NP_683698.2. NM_148900.3.

UniGene

Hs.282787.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2A07	X-ray	1.90	F/G/H/I/J/K	503-594	[»]
2AS5	X-ray	2.70	F/G	503-594	[»]

ProteinModelPortal

O15409.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-29004N.

IntAct

O15409. 1 interaction.

PTM databases

PhosphoSite

O15409.

Proteomic databases

PaxDb

O15409.

PRIDE

O15409.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000350908; ENSP00000265436; ENSG00000128573.
ENST00000360232; ENSP00000353367; ENSG00000128573.
ENST00000378237; ENSP00000367482; ENSG00000128573.
ENST00000393489; ENSP00000377129; ENSG00000128573.
ENST00000393494; ENSP00000377132; ENSG00000128573.
ENST00000403559; ENSP00000385069; ENSG00000128573.
ENST00000408937; ENSP00000386200; ENSG00000128573.
ENST00000412402; ENSP00000405470; ENSG00000128573.
ENST00000441290; ENSP00000416825; ENSG00000128573.

GeneID

93986.

KEGG

hsa:93986.

UCSC

uc003vgv.1. human.
uc003vgw.3. human.
uc003vgx.2. human.
uc003vgz.3. human.
uc003vhd.3. human.

Organism-specific databases

CTD

93986.

GeneCards

GC07P113649.

HGNC

HGNC:13875. FOXP2.

HPA

CAB011488.
HPA000382.
HPA000383.

MIM

602081. phenotype.
605317. gene.

neXtProt

NX_O15409.

Orphanet

251061. 7q31 microdeletion syndrome.
209908. Speech-language disorder type 1.

PharmGKB

PA28242.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5025.

HOGENOM

HOG000092089.

HOVERGEN

HBG051657.

KO

K09409.

OMA

PETKLCV.

OrthoDB

EOG402WS7.

PhylomeDB

O15409.

Gene expression databases

ArrayExpress

O15409.

Bgee

O15409.

Genevestigator

O15409.

GermOnline

ENSG00000128573. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.10. 1 hit.

InterPro

IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
IPR015880. Znf_C2H2-like.
[Graphical view]

Pfam

PF00250. Fork_head. 1 hit.
[Graphical view]

PRINTS

PR00053. FORKHEAD.

SMART

SM00339. FH. 1 hit.
SM00355. ZnF_C2H2. 1 hit.
[Graphical view]

PROSITE

PS00657. FORK_HEAD_1. False negative.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

FOXP2. human.

EvolutionaryTrace

O15409.

GenomeRNAi

93986.

NextBio

78260.

SOURCE

Search...

Entry information

Entry name

FOXP2_HUMAN

Accession

Primary (citable) accession number: O15409
Secondary accession number(s): A0AUV6 , A4D0U8, A6NNW4, B4DLD9, Q6ZND1, Q75MJ3, Q8IZE0, Q8N0W2, Q8N6B7, Q8N6B8, Q8NFQ1, Q8NFQ2, Q8NFQ3, Q8NFQ4, Q8TD74

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 5, 2001
Last sequence update:	December 5, 2001
Last modified:	May 1, 2013
This is version 135 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.