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  2. TCF20 - transcription factor 20 Gene

TCF20 - transcription factor 20 Gene

中文名称:转录因子 20

种属: Homo sapiens

同用名: AR1; SPBP; DDVIBA; TCF-20

基因 ID: 6942 | 基因类型: protein coding

关于 TCF20

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,160,013-42,343,537 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 210 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 9.0), thyroid (RPKM 8.8) and 25 other tissues.

功能概要

该基因编码的转录因子可识别基质金属蛋白酶 3 启动子中的血小板衍生生长因子反应元件。编码的蛋白质被认为是转录共激活因子,增强转录因子如 JUN 和 SP1 的活性。该基因的突变与自闭症谱系障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 9 月]

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

TCF20 基因产物(3)

mRNA Protein Name
NM_001378418.1 NP_001365347.1 transcription factor 20 isoform 1
NM_005650.4 NP_005641.1 transcription factor 20 isoform 1
NM_181492.3 NP_852469.1 transcription factor 20 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17913746 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
10995766 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

TCF20 蛋白结构

zf-HC5HC2H

zf-HC5HC2H: PHD-like zinc-binding domain (1855 - 1933)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1960 a.a.
蛋白主名 其他名称

transcription factor 20

SPRE-binding protein

关联疾病

疾病名称 别名
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities

DDVIBA

Myoclonus
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hypotonia
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

Klippel-Feil Syndrome 4
Apricot Allergy

Prunus Armeniaca Fruit Allergy

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

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Autotopagnosia

Body-Image Agnosia

Akinetopsia
Developmental And Epileptic Encephalopathy 65

DEE65

Epileptic Encephalopathy, Early Infantile, 65

Eiee65

Developmental And Epileptic Encephalopathy, 65

Early Infantile Epileptic Encephalopathy 65

Encephalopathy, Epileptic, Early Infantile, Type 65

Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

CMS1A

Cms Iia

Congenital Myasthenic Syndrome Type Iia

Cms2a

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Cms2a, Formerly

Cms Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Sccms

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel

Mixed Receptive-Expressive Language Disorder
Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1

Vertebrobasilar Insufficiency

Vertebro-Basilar Insufficiency

Vertebrobasilar Arterial Insufficiency

Vertebrobasilar Artery Syndrome

Constipation
Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

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
Felis catus TCF20 VGNC VGNC:66023
Macaca mulatta TCF20 VGNC VGNC:78285
Canis familiaris TCF20 VGNC VGNC:47192
Bos taurus TCF20 VGNC VGNC:35689
Mus musculus TCF20 MGD MGI:108399
Rattus norvegicus TCF20 RGD RGD:1594486