• Gene id: 93986

Gene Summary

• Gene Symbol: FOXP2   Gene   UCSC   Ensembl
• Aliases: CAGH44, SPCH1, TNRC10
• Gene name: forkhead box P2
• Alternate names: forkhead box protein P2, CAG repeat protein 44, forkhead/winged-helix transcription factor, trinucleotide repeat containing 10, trinucleotide repeat-containing gene 10 protein,
• Gene location: 7q31.1 (114086326: 114693771)     Exons: 24     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and
• OMIM: 605317

Protein Summary

• Protein general information: O15409  
  • Name: Forkhead box protein P2 (CAG repeat protein 44) (Trinucleotide repeat containing gene 10 protein)
  • Length: 715  
  • Mass: 79919
  • Tissue specificity: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung. {ECO
• Sequence:

  MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKS
  PKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQL
  LQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQ
  QLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTT
  SSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDD
  RSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTP
  TAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQL
  TLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPT
  SLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKE
  EPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE

• Structural information:
  • Interpro: IPR001766  IPR032354  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00658 PS50039 PS00028
  • CDD: cd00059
  • PDB: 2A07 2AS5
  • PDBsum: 2A07 2AS5
  • DIP: 29004
  • STRING: ENSP00000386200
• Other Databases: GeneCards:  FOXP2  Malacards:  FOXP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0060013	righting reflex	IEA	biological process
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA	biological process
GO:0050681	androgen receptor binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0042297	vocal learning	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0048286	lung alveolus development	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0098582	innate vocalization behavior	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0021987	cerebral cortex development	IEP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0021757	caudate nucleus development	IMP	biological process
GO:0021758	putamen development	IMP	biological process

Diseases

Associated diseases	References
Speech-language disorder 1	KEGG:H00902
Speech-language disorder 1	KEGG:H00902
Autism spectrum disorder	PMID:24356376
Speech-language disorder	PMID:11586359
Attention deficit hyperactivity disorder	PMID:22504457
autistic disorder	PMID:15108192
autistic disorder	PMID:15737702
Major depressive disorder	PMID:22404659
Articulation disorder	PMID:20923434
Dyslexia	PMID:21897444
Schizophrenia	PMID:16538183
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881