FOXP2 (forkhead box P2)

Gene

• Entrez ID: 93986
• Gene name: Forkhead box P2
• Gene symbol: FOXP2
• Synonyms (NCBI Gene): CAGH44, SPCH1, TNRC10
• Chromosome: 7
• Chromosome location: 7q31.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908377	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs121908378	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs199581885	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201343293	A>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs786200976	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879253772	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1064793842	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1135401820	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1178491246	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, synonymous variant, intron variant
rs1554412300	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554440661	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1554440713	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1554441663	ATAA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1563045683	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1563047452	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1584969672	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT537314	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT537313	hsa-miR-4422	PAR-CLIP	22012620
MIRT537312	hsa-miR-548p	PAR-CLIP	22012620
MIRT537311	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT537310	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT537314	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT537313	hsa-miR-4422	PAR-CLIP	22012620
MIRT537312	hsa-miR-548p	PAR-CLIP	22012620
MIRT537311	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT537310	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT1003413	hsa-miR-1206	CLIP-seq
MIRT1003414	hsa-miR-1305	CLIP-seq
MIRT1003415	hsa-miR-141	CLIP-seq
MIRT1003416	hsa-miR-196a	CLIP-seq
MIRT1003417	hsa-miR-196b	CLIP-seq
MIRT1003418	hsa-miR-19a	CLIP-seq
MIRT1003419	hsa-miR-19b	CLIP-seq
MIRT1003420	hsa-miR-200a	CLIP-seq
MIRT1003421	hsa-miR-214	CLIP-seq
MIRT1003422	hsa-miR-25	CLIP-seq
MIRT1003423	hsa-miR-32	CLIP-seq
MIRT1003424	hsa-miR-330-3p	CLIP-seq
MIRT1003425	hsa-miR-3545-3p	CLIP-seq
MIRT1003426	hsa-miR-3619-5p	CLIP-seq
MIRT1003427	hsa-miR-363	CLIP-seq
MIRT1003428	hsa-miR-367	CLIP-seq
MIRT1003429	hsa-miR-3671	CLIP-seq
MIRT1003430	hsa-miR-3689d	CLIP-seq
MIRT1003431	hsa-miR-4325	CLIP-seq
MIRT1003432	hsa-miR-4328	CLIP-seq
MIRT1003433	hsa-miR-4443	CLIP-seq
MIRT1003434	hsa-miR-4463	CLIP-seq
MIRT1003435	hsa-miR-4490	CLIP-seq
MIRT1003436	hsa-miR-4494	CLIP-seq
MIRT1003437	hsa-miR-4774-5p	CLIP-seq
MIRT1003438	hsa-miR-4777-3p	CLIP-seq
MIRT1003439	hsa-miR-548l	CLIP-seq
MIRT1003440	hsa-miR-548n	CLIP-seq
MIRT1003441	hsa-miR-570	CLIP-seq
MIRT1003442	hsa-miR-590-3p	CLIP-seq
MIRT1003443	hsa-miR-607	CLIP-seq
MIRT1003444	hsa-miR-634	CLIP-seq
MIRT1003445	hsa-miR-646	CLIP-seq
MIRT1003446	hsa-miR-671-5p	CLIP-seq
MIRT1003447	hsa-miR-761	CLIP-seq
MIRT1003448	hsa-miR-92a	CLIP-seq
MIRT1003449	hsa-miR-92b	CLIP-seq
MIRT1003450	hsa-miR-1275	CLIP-seq
MIRT1003451	hsa-miR-1276	CLIP-seq
MIRT1003452	hsa-miR-1297	CLIP-seq
MIRT1003453	hsa-miR-26a	CLIP-seq
MIRT1003454	hsa-miR-26b	CLIP-seq
MIRT1003455	hsa-miR-3148	CLIP-seq
MIRT1003456	hsa-miR-3173-3p	CLIP-seq
MIRT1003424	hsa-miR-330-3p	CLIP-seq
MIRT1003457	hsa-miR-3529	CLIP-seq
MIRT1003458	hsa-miR-3665	CLIP-seq
MIRT1003430	hsa-miR-3689d	CLIP-seq
MIRT1003459	hsa-miR-379	CLIP-seq
MIRT1003460	hsa-miR-3927	CLIP-seq
MIRT1003461	hsa-miR-4311	CLIP-seq
MIRT1003432	hsa-miR-4328	CLIP-seq
MIRT1003433	hsa-miR-4443	CLIP-seq
MIRT1003462	hsa-miR-4457	CLIP-seq
MIRT1003463	hsa-miR-4465	CLIP-seq
MIRT1003464	hsa-miR-4525	CLIP-seq
MIRT1003465	hsa-miR-4665-5p	CLIP-seq
MIRT1003466	hsa-miR-4668-5p	CLIP-seq
MIRT1003467	hsa-miR-4711-5p	CLIP-seq
MIRT1003468	hsa-miR-4723-5p	CLIP-seq
MIRT1003469	hsa-miR-4780	CLIP-seq
MIRT1003470	hsa-miR-513b	CLIP-seq
MIRT1003439	hsa-miR-548l	CLIP-seq
MIRT1003440	hsa-miR-548n	CLIP-seq
MIRT1003471	hsa-miR-582-5p	CLIP-seq
MIRT1003472	hsa-miR-583	CLIP-seq
MIRT1003443	hsa-miR-607	CLIP-seq
MIRT1003473	hsa-miR-623	CLIP-seq
MIRT1003474	hsa-miR-625	CLIP-seq
MIRT1003475	hsa-miR-657	CLIP-seq
MIRT1003476	hsa-miR-1257	CLIP-seq
MIRT1003477	hsa-miR-1279	CLIP-seq
MIRT1003478	hsa-miR-197	CLIP-seq
MIRT1003479	hsa-miR-203	CLIP-seq
MIRT1003480	hsa-miR-30a	CLIP-seq
MIRT1003481	hsa-miR-30b	CLIP-seq
MIRT1003482	hsa-miR-30c	CLIP-seq
MIRT1003483	hsa-miR-30d	CLIP-seq
MIRT1003484	hsa-miR-30e	CLIP-seq
MIRT1003485	hsa-miR-3136-5p	CLIP-seq
MIRT1003486	hsa-miR-3647-3p	CLIP-seq
MIRT1003487	hsa-miR-374c	CLIP-seq
MIRT1003488	hsa-miR-380	CLIP-seq
MIRT1003489	hsa-miR-4439	CLIP-seq
MIRT1003490	hsa-miR-4513	CLIP-seq
MIRT1003491	hsa-miR-4757-5p	CLIP-seq
MIRT1003492	hsa-miR-4760-5p	CLIP-seq
MIRT1003493	hsa-miR-522	CLIP-seq
MIRT1003494	hsa-miR-655	CLIP-seq
MIRT1003462	hsa-miR-4457	CLIP-seq
MIRT2231140	hsa-miR-4729	CLIP-seq
MIRT2231141	hsa-miR-501-3p	CLIP-seq
MIRT2231142	hsa-miR-502-3p	CLIP-seq
MIRT1003470	hsa-miR-513b	CLIP-seq
MIRT2231143	hsa-miR-513c	CLIP-seq
MIRT2231144	hsa-miR-514b-5p	CLIP-seq
MIRT2231145	hsa-miR-617	CLIP-seq
MIRT2231146	hsa-miR-935	CLIP-seq
MIRT1003479	hsa-miR-203	CLIP-seq
MIRT2681147	hsa-miR-433	CLIP-seq
MIRT2681148	hsa-miR-586	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU3F2	Unknown	23197593

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003677	Function	DNA binding	IDA	16407075
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	18987363
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	19907493, 21653829, 24722188, 24893771, 25027557, 25416956, 25609649, 25853299, 26647308, 27107012, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021757	Process	Caudate nucleus development	IMP	11872605
GO:0021758	Process	Putamen development	IMP	11872605
GO:0021987	Process	Cerebral cortex development	IEP	18987363
GO:0030324	Process	Lung development	IEA
GO:0042297	Process	Vocal learning	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16407075, 24893771, 25609649
GO:0042803	Function	Protein homodimerization activity	IDA	16407075
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	18987363
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	18987363
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060013	Process	Righting reflex	IEA
GO:0060501	Process	Positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0071625	Process	Vocalization behavior	IEA

Other IDs

• MIM: 605317
• HGNC: 13875
• e!Ensembl: ENSG00000128573

Protein

• UniProt ID: O15409
• Protein name: Forkhead box protein P2 (CAG repeat protein 44) (Trinucleotide repeat-containing gene 10 protein)
• Protein 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 tra
• PDB: 2A07, 2AS5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16159	FOXP-CC	342 → 410	FOXP coiled-coil domain	Domain
  PF00250	Forkhead	503 → 584	Forkhead domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung. {ECO:0000269|PubMed:12189486}.
• Sequence:

  MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQA
  ARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQA
  LLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ
  QQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQG
  LISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTT
  SSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDF
  GQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSP
  KPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHS
  DKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAY
  FRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPT
  SLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSP
  GCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE

• Sequence length: 715

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Childhood apraxia of speech	Pathogenic; Likely pathogenic	rs1347299046, rs2129327570, rs1474090446, rs2129341954, rs1349250538, rs2485480857, rs121908377, rs121908378, rs2485493224, rs2485474457, rs1135401820, rs1178491246, rs1584969672	RCV001376007 RCV001420149 RCV001449595 RCV001449600 RCV001563653 RCV002291146 RCV000005371 RCV000005372 RCV003311583 RCV004594958 RCV000496173 RCV000754787 RCV000995771
FOXP2-related disorder	Likely pathogenic; Pathogenic	rs121908377, rs2485386367, rs2485480571	RCV005428989 RCV003408469 RCV003414406
See cases	Pathogenic	rs2129337870, rs121908378	RCV001420285 RCV004797755

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign	rs61732741	RCV005888419
Familial cancer of breast	Likely benign	rs398005923	RCV005868003
Intellectual disability	Likely benign	rs145154396, rs752789124	RCV001251758 RCV001251759
Lung adenocarcinoma	Uncertain significance	rs1034289467, rs2485510440, rs1806304987	RCV003129663 RCV003129664 RCV003129715
Malignant tumor of esophagus	Benign	rs61732741	RCV005888418
Nonpapillary renal cell carcinoma	Likely benign	rs398005923	RCV005868004
Squamous cell carcinoma	Uncertain significance	rs2485514441	RCV003129692
Thyroid cancer, nonmedullary, 1	Benign	rs61732741	RCV005888421
Uterine carcinosarcoma	Benign	rs61732741	RCV005888420

Associations from Text Mining
Disease Name	Relationship Type	References
Alcoholism	Stimulate	31494441
Anxiety	Associate	36328423
Apraxias	Associate	10880297, 11894222, 12599277, 12746395, 15877281, 17033973, 17999362, 18987363, 19332160, 19352412, 20096010, 20848658, 20858596, 20923434, 20950788, 21108403, 21386874, 21897444, 22106036, 22262880, 22766611, 22909774, 23602712, 24807205, 25232744, 25422445, 26867680, 27734906, 29174050, 29463886, 30460543, 30668952, 31046704, 35944036, 36328423, 40225914, 9770548
Autism Spectrum Disorder	Associate	21832174, 21996756, 28081867, 36758877
Autistic Disorder	Associate	12721956, 12746395, 18987363, 21832174, 28081867, 35944036
Brain Diseases	Associate	17999362
Breast Neoplasms	Associate	25515522, 31646574, 35614183
Carcinoma Hepatocellular	Inhibit	26142732
Carcinoma Non Small Cell Lung	Associate	31432170
Cognition Disorders	Associate	21832174, 31046704, 31425145
Colorectal Neoplasms	Associate	31378886, 35667086
Communication Disorders	Associate	15877281, 17999362
Depressive Disorder	Associate	30718454, 35017462, 36328423
Developmental Disabilities	Associate	31067457, 31199603
Diabetes Gestational	Associate	34969354
DiGeorge Syndrome	Stimulate	38382530
Disease	Associate	31067457
Dyslexia	Associate	12746395, 21897444, 22262880, 30379906
Esophageal Squamous Cell Carcinoma	Associate	33432363
Feeding and Eating Disorders	Associate	36328423
Frontotemporal Dementia	Associate	25556567
Gallbladder Neoplasms	Associate	29512694
Gray Platelet Syndrome	Associate	12599277
Hallucinations	Associate	20649982, 24360035
Hamartoma Syndrome Multiple	Associate	10880297
Heart Diseases	Associate	23602712
Immunologic Deficiency Syndromes	Associate	36670102
Inflammation	Associate	26830200, 34969354
Inflammatory Bowel Diseases	Associate	16045746
Language Development Disorders	Associate	15877281, 18987363, 22262880, 29174050
Language Disorders	Associate	12721956, 12746395, 18987363, 19352412, 20649982, 20950788, 22262880, 23602712, 27064276, 30460543, 36328423
Leukemia Lymphoma Adult T Cell	Associate	15198736
Lymphoma	Associate	20096010
Lymphoma Large B Cell Diffuse	Associate	27224915
Melanoma	Associate	36331719
Meningioma	Associate	32949309
Mental Disorders	Associate	37488639, 38382530
Monoclonal Gammopathy of Undetermined Significance	Associate	20096010
Motor Disorders	Associate	36328423
Mucolipidoses	Associate	30460543
Multiple Myeloma	Associate	20096010
Muscular Dystrophy Congenital Megaconial Type	Associate	17999362
Neoplasm Metastasis	Associate	30429477, 31378886
Neoplasm Metastasis	Inhibit	39511642
Neoplasms	Associate	20646003, 32949309, 35944036, 36203616
Neoplasms	Inhibit	31432170
Neoplasms Plasma Cell	Associate	27224915
Neuroblastoma	Associate	31046704
Neurologic Manifestations	Associate	28081867
Obesity	Associate	25651499
Oculocutaneous albinism type 2	Associate	27734906
Orofacial Cleft 1	Associate	26868259
Ovarian Neoplasms	Associate	39511642
Parental Death	Associate	24360035
Parkinson Disease	Associate	36952070
Polymicrogyria	Associate	20858596
Precancerous Conditions	Associate	31378886
Schizophrenia	Associate	20649982, 24360035, 31425145, 35944036
Signs and Symptoms	Associate	28081867
Silver Russell Syndrome	Associate	17033973
Sleep Wake Disorders	Associate	36328423
Specific Language Disorder	Associate	12721956
Speech Disorders	Associate	19797137, 22766611, 23860044, 36328423
Speech Sound Disorder	Associate	20923434
Stomach Neoplasms	Associate	20626849, 32671202
Stuttering	Associate	21108403, 24807205
Substance Related Disorders	Associate	24360035
Syndrome	Associate	19352412
Thalamic Diseases	Associate	38382530
Thyroid Neoplasms	Associate	36203616
Weight Loss	Associate	27734906, 30460543