BTBD9 - BTB domain containing 9 Gene

Homo sapiens

Also known as dJ322I12.1

Gene ID: 114781 | Gene type: protein coding

About BTBD9

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:38,168,451-38,639,929 (from NCBI)

This gene has 9 transcripts (splice variants), 223 orthologues and 11 paralogues. Ubiquitous expression in brain (RPKM 4.8), lung (RPKM 3.2) and 25 other tissues.

Summary

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

BTBD9 Products(4)

mRNA	Protein	Name
NM_001099272.2	NP_001092742.1	BTB/POZ domain-containing protein 9 isoform a
NM_001172418.2	NP_001165889.1	BTB/POZ domain-containing protein 9 isoform c
NM_052893.2	NP_443125.1	BTB/POZ domain-containing protein 9 isoform a
NM_152733.3	NP_689946.2	BTB/POZ domain-containing protein 9 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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

BTBD9 Protein Structure

BTB

BACK

F5_F8_type_C

0
100
200
300
400
500
612 a.a.

Protein Preferred Names

Protein Names

BTB/POZ domain-containing protein 9

BTB (POZ) domain containing 9

Related Diseases

Diseases

Alias

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

Restless Legs Syndrome 6

RLS6	Restless Legs Syndrome, Susceptibility To, 6
Periodic Limb Movements In Sleep

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease	Juvenile Osteochondrosis Of Tibial Tubercle
Osteochondrosis	Osteochondritis Of Tibial Tubercle
Osteochondrosis Of Proximal Tibia	Aseptic Necrosis Of The Tibial Tubercle
Osteochondrosis Of The Tibial Tubercle	Osteochondritis Juvenilis

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder	Tic Disorders
Tic Disorder	Tic Disorder Nos
Tic Nos	Tic Spasm Nos

Tic Disorder

Tics	Behavioral Tic

Advanced Sleep Phase Syndrome

Fasps	Familial Advanced Sleep-Phase Syndrome
Advanced Sleep Phase Syndrome, Familial	Familial Advanced Sleep Phase Syndrome
Sleep Phase Syndrome, Advanced, Familial	Advanced Sleep-Phase Syndrome, Familial

Gilles De La Tourette Syndrome

Tourette Syndrome	Tourette Disorder
GTS	Ts
Gilles De La Tourette'S Syndrome	Motor-Verbal Tic Disorder
Guinon'S Disease	Psychogenic Tics
Tourette'S Syndrome	Chronic Motor And Vocal Tic Disorder
Td	Tourette'S Disease
Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]	Combined Vocal And Multiple Motor Tic Disorder
Tic De La Tourette

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-RS01658	BTBD9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BTBD9	RGD	RGD:1306975
Macaca mulatta	BTBD9	VGNC	VGNC:70360
Canis familiaris	BTBD9	VGNC	VGNC:52108
Bos taurus	BTBD9	VGNC	VGNC:54397
Mus musculus	BTBD9	MGD	MGI:1916625
Felis catus	BTBD9	VGNC	VGNC:60203
Others	BTBD9	NCBI

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