1. Gene
  2. BTBD9 - BTB domain containing 9 Gene

BTBD9 - BTB domain containing 9 Gene

中文名称:含 BTB 域 9

种属: Homo sapiens

同用名: dJ322I12.1

基因 ID: 114781 | 基因类型: protein coding

关于 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.

功能概要

该位点编码一个包含 BTB/POZ 结构域的蛋白质。已知该结构域参与蛋白质-蛋白质相互作用。据报道,该位点的多态性与不宁腿综合征的易感性有关,也可能与图雷特综合征有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2011 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BTBD9 蛋白结构

BTB

BTB: BTB/POZ domain (33 - 135)

BACK

BACK: BTB And C-terminal Kelch (143 - 239)

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (292 - 402)

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (444 - 546)

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  • 612 a.a.
蛋白主名 其他名称

BTB/POZ domain-containing protein 9

BTB (POZ) domain containing 9

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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