BTBD9 - BTB domain containing 9 Gene

Also Known as dJ322I12.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 114781

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	Referencias	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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS01658	BTBD9 Human Pre-designed siRNA Set A	Pre-designed Set	/	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