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  2. FOXP2 - forkhead box P2 Gene

FOXP2 - forkhead box P2 Gene

中文名称:叉头盒 P2

种属: Homo sapiens

同用名: SPCH1; CAGH44; TNRC10

基因 ID: 93986 | 基因类型: protein coding

关于 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.

功能概要

该基因编码叉头/翼状螺旋 (FOX) 转录因子家族的成员。它在胎儿和成人大脑以及肺和肠道等其他几个器官中表达。该蛋白产物包含一个 FOX DNA 结合域和一个大的聚谷氨酰胺束,是一种进化上保守的转录因子,可直接与人类基因组中大约 300 至 400 个基因启动子结合,以调节多种基因的表达。该基因是胚胎发生过程中大脑言语和语言区域正常发育所必需的,并且可能参与最终影响语言发育的多种生物途径和级联反应。该基因的突变导致言语语言障碍 1 (SPCH1) ,也称为常染色体显性遗传性言语障碍伴口面部运动障碍。已在该基因中鉴定出编码不同亚型的多个替代转录本。[RefSeq 提供,2010 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
16407075 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
18987363 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16407075 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19907493 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16407075 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
18987363 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in caudate nucleus development IMP
IMP: 通过突变表型推断
11872605 GOA
involved in cerebral cortex development IEP
IEP: 通过表达模式推断
18987363 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
18987363 GOA
involved in putamen development IMP
IMP: 通过突变表型推断
11872605 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FOXP2 蛋白结构

Forkhead

Forkhead: Forkhead domain (504 - 587)

  • 0
  • 200
  • 400
  • 600
  • 715 a.a.
蛋白主名 其他名称

forkhead box protein P2

CAG repeat protein 44

FOXP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FOXP2 O15409 CTBP1 Homo sapiens Q13363-2
Y2H Prey Pooling
25416956
种属内
FOXP2 O15409 CTBP2 Homo sapiens P56545-3
Validated Y2H
32296183
种属内
FOXP2 O15409 FOXP4 Homo sapiens Q8IVH2
IF
25027557
种属内
FOXP2 O15409 FOXP4 Homo sapiens Q8IVH2
Anti Tag CoIP
33961781
种属内
FOXP2 O15409 FOXP4 Homo sapiens Q8IVH2
TAP
25609649
种属内
FOXP2 O15409 FOXP4 Homo sapiens Q8IVH2
Anti Bait CoIP
19907493
种属内
FOXP2 O15409 FOXP4 Homo sapiens Q8IVH2
Anti Tag CoIP
25027557
种属内
FOXP2 O15409 TLE5 Homo sapiens Q08117-2
Validated Y2H
32296183
种属内
FOXP2 O15409 CDK3 Homo sapiens Q00526
Validated Y2H
32296183
种属内
FOXP2 O15409 PIN1 Homo sapiens Q13526
Validated Y2H
25416956
种属内
FOXP2 O15409 PIN1 Homo sapiens Q13526
Validated Y2H
32296183
种属内
FOXP2 O15409 PIN1 Homo sapiens Q13526
Y2H Array
25416956
种属内
FOXP2 O15409 SDCBP Homo sapiens O00560
Y2H Prey Pooling
25416956
种属内
FOXP2 O15409 SDCBP Homo sapiens O00560
Validated Y2H
25416956
种属内
FOXP2 O15409 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
种属内
FOXP2 O15409 TSACC Homo sapiens Q96A04
Validated Y2H
25416956
种属内
FOXP2 O15409 TSACC Homo sapiens Q96A04
Validated Y2H
32296183
种属内
FOXP2 O15409 CTBP2 Homo sapiens P56545
Validated Y2H
25416956
种属内
FOXP2 O15409 FAM124A Homo sapiens Q86V42
Validated Y2H
25416956
种属内
FOXP2 O15409 FAM124A Homo sapiens Q86V42
Y2H Array
25416956
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
BRET
26647308
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
Anti Tag CoIP
33961781
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
BRET
24893771
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
Confocal
26647308
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
Anti Bait CoIP
19907493
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
BRET
25853299
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
IF
25853299
种属内
FOXP2 O15409 FOXP1 Homo sapiens Q9H334
TAP
25609649
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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