FOXP2 - forkhead box P2 Gene

Also Known as SPCH1; CAGH44; TNRC10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 93986

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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

FOXP2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83831	FOXP2 Antibody (YA3528)	WB, FC, ELISA	Human
HY-P83831A	FOXP2 Antibody (YA3528)(PBS only)	WB, FC, ELISA	Human
HY-P85173	FOXP2 Antibody (YA4865)	WB, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05074	FOXP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22516	Foxp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29037	Foxp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	FOXP2	NCBI