FOXP2 - forkhead box P2 Gene

Homo sapiens

Also known as SPCH1; CAGH44; TNRC10

Gene ID: 93986 | Gene type: protein coding

About FOXP2

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:114,086,327-114,693,765 (from NCBI)

This gene has 32 transcripts (splice variants), 208 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 3.6), endometrium (RPKM 3.4) and 22 other tissues.

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 a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

FOXP2 Products(6)

mRNA	Protein	Name
NM_001172766.3	NP_001166237.1	forkhead box protein P2 isoform V
NM_001172767.2	NP_001166238.1	forkhead box protein P2 isoform VI
NM_014491.4	NP_055306.1	forkhead box protein P2 isoform I
NM_148898.4	NP_683696.2	forkhead box protein P2 isoform II
NM_148899.3	NP_683697.2	forkhead box protein P2 isoform III
NM_148900.4	NP_683698.2	forkhead box protein P2 isoform IV

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	16407075	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	18987363	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16407075	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19907493	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	16407075	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	18987363	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in caudate nucleus development	IMP IMP: Inferred from mutant phenotype	11872605	GOA
involved in cerebral cortex development	IEP IEP: Inferred from expression pattern	18987363	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18987363	GOA
involved in putamen development	IMP IMP: Inferred from mutant phenotype	11872605	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXP2 Protein Structure

Forkhead

0
200
400
600
715 a.a.

Protein Preferred Names

Protein Names

forkhead box protein P2

CAG repeat protein 44

FOXP2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FOXP2	O15409	CTBP1	Homo sapiens	Q13363-2	Y2H Prey Pooling	25416956
Intra	FOXP2	O15409	CTBP2	Homo sapiens	P56545-3	Validated Y2H	32296183
Intra	FOXP2	O15409	FOXP4	Homo sapiens	Q8IVH2	IF	25027557
Intra	FOXP2	O15409	FOXP4	Homo sapiens	Q8IVH2	Anti Tag CoIP	33961781
Intra	FOXP2	O15409	FOXP4	Homo sapiens	Q8IVH2	TAP	25609649
Intra	FOXP2	O15409	FOXP4	Homo sapiens	Q8IVH2	Anti Bait CoIP	19907493
Intra	FOXP2	O15409	FOXP4	Homo sapiens	Q8IVH2	Anti Tag CoIP	25027557
Intra	FOXP2	O15409	TLE5	Homo sapiens	Q08117-2	Validated Y2H	32296183
Intra	FOXP2	O15409	CDK3	Homo sapiens	Q00526	Validated Y2H	32296183
Intra	FOXP2	O15409	PIN1	Homo sapiens	Q13526	Validated Y2H	25416956
Intra	FOXP2	O15409	PIN1	Homo sapiens	Q13526	Validated Y2H	32296183
Intra	FOXP2	O15409	PIN1	Homo sapiens	Q13526	Y2H Array	25416956
Intra	FOXP2	O15409	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	FOXP2	O15409	SDCBP	Homo sapiens	O00560	Validated Y2H	25416956
Intra	FOXP2	O15409	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	FOXP2	O15409	TSACC	Homo sapiens	Q96A04	Validated Y2H	25416956
Intra	FOXP2	O15409	TSACC	Homo sapiens	Q96A04	Validated Y2H	32296183
Intra	FOXP2	O15409	CTBP2	Homo sapiens	P56545	Validated Y2H	25416956
Intra	FOXP2	O15409	FAM124A	Homo sapiens	Q86V42	Validated Y2H	25416956
Intra	FOXP2	O15409	FAM124A	Homo sapiens	Q86V42	Y2H Array	25416956
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	BRET	26647308
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	Anti Tag CoIP	33961781
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	BRET	24893771
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	Confocal	26647308
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	Anti Bait CoIP	19907493
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	BRET	25853299
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	IF	25853299
Intra	FOXP2	O15409	FOXP1	Homo sapiens	Q9H334	TAP	25609649

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Childhood Apraxia Of Speech

Cas	Articulatory Apraxia
Das	Developmental Apraxia Of Speech
Developmental Verbal Apraxia	Developmental Verbal Dyspraxia
Speech And Language Disorder With Orofacial Dyspraxia	Articulation Disorders, Developmental
Apraxia, Articulatory	Apraxia, Developmental Verbal

Isolated Childhood Apraxia Of Speech

Isolated Cas	Isolated Developmental Verbal Dyspraxia
Pure Cas	Pure Childhood Apraxia Of Speech
Speech And Language Disorder With Orofacial Dyspraxia

Gallbladder Cancer

Gallbladder Carcinoma	Gallbladder Neoplasm
Malignant Neoplasm Of Gallbladder	Malignant Tumour Of Gallbladder
Gallbladder Ca	Localized Malignant Gallbladder Neoplasm
Malignant Tumor Of The Gallbladder	Tumor Of The Gallbladder
Cancer Of The Gallbladder	Carcinoma Gallbladder
Carcinoma Of Gallbladder	Gallbladder Neoplasms
Malignant Neoplasm Of Gallbladder Localized	Cancer Of Gallbladder
Primary Malignant Neoplasm Of Gallbladder

7q31 Microdeletion Syndrome

Del(7)(Q31)

Monosomy 7q31

Speech And Communication Disorders

Language Disorder	Communication Disorder
Language Disorders	Communication Disorders
Speech Language Disorder	Speech-Language Disorder
Communication Impairment	Speech And Language Disorder

Specific Language Impairment

Language Impairment, Specific

Speech Disorder

Speech Disorders

Blepharophimosis

Lymphedema-Distichiasis Syndrome

Lymphedema With Distichiasis	Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus
LPHDST	Distichiasis-Lymphedema Syndrome
Lymphedema Distichiasis Syndrome	Hereditary Lymphedema-Distichiasis Syndrome
Lymphedema Distichiasis

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Epicanthus

Dyslexia

Apraxia

Apraxias

Dyspraxia

Aphasia

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Foxp1 Syndrome	Mental Retardation With Language Impairment And With Or Without Autistic Features
Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects	Intellectual Disability With Language Impairment And With Or Without Autistic Features

Reading Disorder

Specific Reading Disorder	Reading
Dyslexia	Developmental Reading Disorder

Premature Ovarian Failure 1

Ovarian Failure, Premature	Fmr1-Related Primary Ovarian Insufficiency
Fragile X-Associated Primary Ovarian Insufficiency	POF1
Pofx	Hypergonadotropic Ovarian Failure, X-Linked
Pof	Primary Ovarian Insufficiency, Fragile X-Associated
Primary Ovarian Insufficiency 1	Ovarian Failure Premature
Premature Ovarian Failure, X-Linked	Fragile X Premature Ovarian Failure
Fmr1-Related Premature Ovarian Failure	Familial Premature Ovarian Failure
Idiopathic Familial Premature Ovarian Failure	Fxpoi
X-Linked Hypergonadotropic Ovarian Failure	Hypergonadotropic Ovarian Failure X-Linked
Poi	Premature Ovarian Failure X-Linked
Primary Ovarian Insufficiency	Premature Ovarian Failure-1
Ovarian Failure, Premature, Type 1	Premature Ovarian Failure, Familial
Premature Menopause	Primary Hypogonadism
Turner Syndrome

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Distichiasis

Eyelashes, Two Rows Of

Isolated Distichiasis

Amusia

Receptive Amusia

Articulation Disorder

Phonological Disorder	Articulation Disorders
Articulation Impairment	Speech Sound Disorders

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Expressive Language Disorder

Developmental Expressive Language Disorder

Hypogonadotropic Hypogonadism 4 With Or Without Anosmia

HH4	Kallmann Syndrome 4
Kal4	Hypogonadotropic Hypogonadism, Type 4 With/Without Anosmia

Specific Developmental Disorder

Auditory Agnosia

Echolalia

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA

Developmental Coordination Disorder

Motor Skills Disorders

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked

IPEX	X-Linked Autoimmunity-Allergic Dysregulation Syndrome
Xlaad	Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
Ipex Syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome
Iddm-Secretory Diarrhea Syndrome	Dmsd
Autoimmunity-Immunodeficiency Syndrome, X-Linked	Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy
Xpid	Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked
Autoimmune Enteropathy Type 1	Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked
Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly	Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked	Autoimmunity-Immunodeficiency Syndrome X-Linked
Iddm Secretory Diarrhea Syndrome	Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome	Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome
X-Linked Autoimmunity-Immunodeficiency Syndrome	Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome
X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Agnosia

Dyspraxia	Primary Visual Agnosia
Dyspraxia Syndrome	Monomodal Visual Amnesia
Visual Amnesia	Agnosia, Primary Visual
Apraxias	Alexia

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05074	FOXP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FOXP2	VGNC	VGNC:53644
Felis catus	FOXP2	VGNC	VGNC:80047
Canis familiaris	FOXP2	VGNC	VGNC:40966
Mus musculus	FOXP2	MGD	MGI:2148705
Macaca mulatta	FOXP2	VGNC	VGNC:72720
Rattus norvegicus	FOXP2	RGD	RGD:1559697