TCF20 - transcription factor 20 Gene

Homo sapiens

Also known as AR1; SPBP; DDVIBA; TCF-20

Gene ID: 6942 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17913746	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	10995766	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

TCF20 Protein Structure

zf-HC5HC2H

0
400
800
1200
1600
1960 a.a.

Protein Preferred Names

Protein Names

transcription factor 20

SPRE-binding protein

Related Diseases

Diseases

Alias

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

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-RS14302	TCF20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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