TBR1 - T-box brain transcription factor 1 Gene

Also Known as IDDAS; TBR-1; TES-56

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10716

About TBR1

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:161,416,297-161,425,870 (from NCBI)

This gene has 6 transcripts (splice variants), 254 orthologues, 16 paralogues and is associated with 4 phenotypes. Restricted expression toward brain (RPKM 13.1).

Summary

This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]

TBR1 Products (1)

mRNA	Protein	Name
NM_006593.4	NP_006584.1	T-box brain protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30250039	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	25232744	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	25232744	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

TBR1 Protein Structure

T-box

0
200
400
600
682 a.a.

Protein Preferred Names	Protein Names
T-box brain protein 1	T-box, brain 1

TBR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBR1	Q16650	APP	Homo sapiens	P05067-2	Y2H Pooling	32814053
Intra	TBR1	Q16650	APP	Homo sapiens	P05067-2	Validated Y2H	32814053
Intra	TBR1	Q16650	APP	Homo sapiens	P05067-2	Y2H Array	32814053
Intra	TBR1	Q16650	ATXN1	Homo sapiens	P54253	BioID	35140242

Cross: Cross-species interaction Intra: Intraspecies interaction

TBR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83472	TBR1 Antibody (YA3217)	WB	Human, Mouse, Rat
HY-P85816	TBR1 Antibody (YA5508)	WB, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86643	TBR1 Antibody (YA6335)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat
HY-P86922	TBR1 Antibody(YA6615)	WB, IHC-P, IHC-F, ICC/IF, mIHC	Human, Mouse, Rat
HY-P87100	TBR1 Antibody (YA6793)	IHC-F, IHC-P, WB	Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder With Autism And Speech Delay	Autism, Susceptibility To, 5 IDDAS Phrase Speech Delay, Autism-Related Autism-Related Speech Delay Autism 5, Formerly Autism, Susceptibility To, 5, Formerly Auts5, Formerly Autism 5 Auts5
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Chromosome 2q24 Microdeletion Syndrome	2q24 Microdeletion Syndrome Monosomy 2q24 2q24 Deletion Deletion 2q24 Del(2)(Q24) Chromosome 2, Monosomy 2q24
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
Syndromic X-Linked Intellectual Disability Najm Type	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Micpch X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Syndromic Intellectual Disability
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS14268	TBR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TBR1	VGNC	VGNC:47166
Felis catus	TBR1	VGNC	VGNC:107672
Rattus norvegicus	TBR1	RGD	RGD:1591773
Mus musculus	TBR1	MGD	MGI:107404
Macaca mulatta	TBR1	VGNC	VGNC:78111
Bos taurus	TBR1	VGNC	VGNC:35662
Others	TBR1	NCBI