FOXP2 (forkhead box P2)

Gene

• Entrez ID: 93986
• Gene name: Forkhead box P2
• Gene symbol: FOXP2
• Synonyms: 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	IBA	21873635
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	21873635
GO:0003677	Function	DNA binding	IDA	16407075
GO:0003700	Function	DNA-binding transcription factor activity	IDA	18987363
GO:0005515	Function	Protein binding	IPI	19907493, 24722188, 24893771, 25027557, 25232744, 25416956, 25609649, 26647308, 27107012, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0021757	Process	Caudate nucleus development	IMP	11872605
GO:0021758	Process	Putamen development	IMP	11872605
GO:0021987	Process	Cerebral cortex development	IEP	18987363
GO:0033574	Process	Response to testosterone	IEA
GO:0042802	Function	Identical protein binding	IPI	16407075, 24893771, 25609649
GO:0042803	Function	Protein homodimerization activity	IDA	16407075
GO:0043565	Function	Sequence-specific DNA binding	IDA	18987363
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	18987363
GO:0046872	Function	Metal ion binding	IEA
GO:0050681	Function	Androgen receptor binding	IEA
GO:0098582	Process	Innate 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

• Sequence:

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

• Sequence length: 715

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Apraxia	Apraxias, Ideational Apraxia, Apraxia of Phonation, Apraxia, Verbal, Apraxia, Oral, Apraxia, Developmental Verbal, Childhood apraxia of speech	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672	17033973, 27120335, 27120335, 17033973, 11586359, 27120335, 15877281, 23918746, 15326624, 17033973, 25232744, 20858596
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	30478444, 30610198
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	17033973, 15108192
Diabetes	Diabetes	rs80356611	31511532
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	31511532
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24360035, 31374203, 21334420, 20649982, 22404659, 19018235

Unknown
Disease name	Disease term	dbSNP ID	References
7q31 microdeletion syndrome	7q31 microdeletion syndrome		17330859, 22144704
Auditory processing disorder	Auditory Processing Disorder, Central		27120335
Dysarthria	Dysarthria
Endometriosis	Endometriosis	rs1800629, rs1143634	28333195
Gastroesophageal reflux disease	Gastroesophageal reflux disease		31527586
Grammar-specific speech disorder	Grammar-specific speech disorder
Language development disorders	Language Development Disorders		27120335
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	22404659
Oromotor apraxia	Oromotor apraxia
Receptive language delay	Receptive language delay
Russell-silver syndrome	Russell-Silver syndrome		17033973
Specific language impairment	Specific language impairment		18287060, 18052609, 12876151, 15983371, 24607928, 16984964, 11586359, 23918746, 12815709, 15877281, 27572252
Specific learning disorder	Specific learning disability	rs1057519497
Speech delay	Speech Delay		27120335
Submucosal cleft palate	Submucous cleft of hard palate