TCF20 - transcription factor 20 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6942

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17913746	GOA

Cellular Component GO Annotation	Evidence	References	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

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 Set	/	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
Others	TCF20	NCBI