1. Gene
  2. BBS7 - Bardet-Biedl syndrome 7 Gene

BBS7 - Bardet-Biedl syndrome 7 Gene

中文名称:Bardet-Biedl 综合征 7

种属: Homo sapiens

同用名: BBS2L1

基因 ID: 55212 | 基因类型: protein coding

关于 BBS7

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:121,824,329-121,870,474 (from NCBI)

This gene has 6 transcripts (splice variants), 198 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 3.7) and 24 other tissues.

功能概要

该基因编码构成 BBSome 复合体的八种蛋白质之一,包含 BBS1、BBS2、BBS4、BBS5、BBS7、BBS8、BBS9 和 BBIP10。 BBSome 复合体被认为将 Rab8 (GTP) 募集到初级纤毛并促进纤毛发生。 BBSome 复合体组装由三种伴侣蛋白样 BBS 蛋白 (BBS6、BBS10 和 BBS12) 和 CCT/TRiC 家族伴侣蛋白组成的复合体介导。该基因的突变与 Bardet-Biedl 综合征有关,Bardet-Biedl 综合征是一种遗传性疾病,其症状包括肥胖、视网膜退化、多指畸形和肾病;然而,该基因和 BBS8 基因的突变被认为起次要作用,而伴侣蛋白样 BBS 基因的突变被发现是导致多种族 Bardet-Biedl 综合征患者群体疾病发展的主要原因。已为该基因鉴定出编码不同亚型的两个转录变体。[RefSeq 提供,2014 年 10 月]

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

BBS7 基因产物(2)

mRNA Protein Name
NM_018190.4 NP_060660.2 Bardet-Biedl syndrome 7 protein isoform b
NM_176824.3 NP_789794.1 Bardet-Biedl syndrome 7 protein isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
22302990 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16327777 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive regulation of proteasomal ubiquitin-dependent protein catabolic process IPI
IPI: 通过物理相互作用推断
22302990 GOA
acts upstream of or within regulation of transcription by RNA polymerase II IPI
IPI: 通过物理相互作用推断
22302990 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BBSome IDA
IDA: 通过直接分析推断
17574030 GOA
part of BBSome IPI
IPI: 通过物理相互作用推断
19081074 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
located in ciliary membrane IDA
IDA: 通过直接分析推断
19081074 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
蛋白主名 其他名称

Bardet-Biedl syndrome 7 protein

BBS2-like 1

BBS7 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BBS7 Q8IWZ6 ALDOB Homo sapiens P05062
Y2H
18000879
种属内
BBS7 Q8IWZ6 BBS1 Homo sapiens Q8NFJ9
Anti Tag CoIP
22500027
种属内
BBS7 Q8IWZ6 BBS1 Homo sapiens Q8NFJ9
Anti Tag CoIP
33961781
种属内
BBS7 Q8IWZ6 BBS1 Homo sapiens Q8NFJ9
TAP
20080638
种属内
BBS7 Q8IWZ6 CCT2 Homo sapiens P78371
TAP
20080638
种属内
BBS7 Q8IWZ6 CCT2 Homo sapiens P78371
Anti Tag CoIP
22500027
种属内
BBS7 Q8IWZ6 CCT2 Homo sapiens P78371
Anti Bait CoIP
20080638
种属内
BBS7 Q8IWZ6 BBS10 Homo sapiens Q8TAM1
Anti Tag CoIP
33961781
种属内
BBS7 Q8IWZ6 BBS10 Homo sapiens Q8TAM1
Anti Tag CoIP
28514442
种属内
BBS7 Q8IWZ6 BBS10 Homo sapiens Q8TAM1
TAP
20080638
种属内
BBS7 Q8IWZ6 BBS12 Homo sapiens Q6ZW61
Anti Tag CoIP
22500027
种属内
BBS7 Q8IWZ6 BBS2 Homo sapiens Q9BXC9
Anti Tag CoIP
33961781
种属内
BBS7 Q8IWZ6 BBS2 Homo sapiens Q9BXC9
TAP
27173435
种属内
BBS7 Q8IWZ6 BBS2 Homo sapiens Q9BXC9
Anti Tag CoIP
28514442
种属内
BBS7 Q8IWZ6 BBS2 Homo sapiens Q9BXC9
TAP
20080638
种属内
BBS7 Q8IWZ6 BBS2 Homo sapiens Q9BXC9
Anti Tag CoIP
17574030
种属内
BBS7 Q8IWZ6 BBS2 Homo sapiens Q9BXC9
Anti Tag CoIP
22500027
种属内
BBS7 Q8IWZ6 JUN Homo sapiens P05412
Display Tech
20195357
种属内
BBS7 Q8IWZ6 JUN Homo sapiens P05412
TAP
20195357
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Bardet-Biedl Syndrome 7

BBS7

Bardet-Biedl Syndrome, Type 7

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Mckusick-Kaufman Syndrome

MKKS

Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation

Hmcs

Kaufman-Mckusick Syndrome

Hydrometrocolpos Syndrome

Hydrometrocolpos-Postaxial Polydactyly Syndrome

Kaufman Mckusick Syndrome

Mckusick Kaufman Syndrome

Mks

Bardet-Biedl Syndrome 18

BBS18

Bardet-Biedl Syndrome, Type 18

Bardet-Biedl Syndrome 6

BBS6

Bardet-Biedl Syndrome, Type 6

Bardet-Biedl Syndrome 19

BBS19

Bardet-Biedl Syndrome, Type 19

Retinal Degeneration

Degeneration Of Retina

Bardet-Biedl Syndrome 11

BBS11

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 11

Bardet-Biedl Syndrome 3

BBS3

Bardet-Biedl Syndrome, Type 3

Bardet-Biedl Syndrome 17

BBS17

Bardet-Biedl Syndrome, Type 17

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy

Laurence-Moon Syndrome

LNMS

Laurence-Moon-Biedl Syndrome

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Meckel Syndrome, Type 2

MKS2

Meckel Syndrome 2

Meckel-Gruber Syndrome, Type 2

Meckel Syndrome Type 2

Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Bardet-Biedl Syndrome 14

BBS14

Bardet-Biedl Syndrome 14, Modifier Of

Bardet-Biedl Syndrome, Type 14

Bardet-Biedl Syndrome 4

BBS4

Bardet-Biedl Syndrome, Type 4

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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
Mus musculus BBS7 MGD MGI:1918742
Rattus norvegicus BBS7 RGD RGD:1309264