BBS7 - Bardet-Biedl syndrome 7 Gene

Also Known as BBS2L1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55212

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	22302990	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16327777	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IPI IPI: Inferred from physical interaction	22302990	GOA
acts upstream of or within regulation of transcription by RNA polymerase II	IPI IPI: Inferred from physical interaction	22302990	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of BBSome	IDA IDA: Inferred from direct assay	17574030	GOA
part of BBSome	IPI IPI: Inferred from physical interaction	19081074	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	19081074	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

Protein Preferred Names	Protein Names
Bardet-Biedl syndrome 7 protein	BBS2-like 1

BBS7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	BBS7	Q8IWZ6	ALDOB	Homo sapiens	P05062	Y2H	18000879
Intra	BBS7	Q8IWZ6	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	22500027
Intra	BBS7	Q8IWZ6	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	33961781
Intra	BBS7	Q8IWZ6	BBS1	Homo sapiens	Q8NFJ9	TAP	20080638
Intra	BBS7	Q8IWZ6	CCT2	Homo sapiens	P78371	TAP	20080638
Intra	BBS7	Q8IWZ6	CCT2	Homo sapiens	P78371	Anti Tag CoIP	22500027
Intra	BBS7	Q8IWZ6	CCT2	Homo sapiens	P78371	Anti Bait CoIP	20080638
Intra	BBS7	Q8IWZ6	BBS10	Homo sapiens	Q8TAM1	Anti Tag CoIP	33961781
Intra	BBS7	Q8IWZ6	BBS10	Homo sapiens	Q8TAM1	Anti Tag CoIP	28514442
Intra	BBS7	Q8IWZ6	BBS10	Homo sapiens	Q8TAM1	TAP	20080638
Intra	BBS7	Q8IWZ6	BBS12	Homo sapiens	Q6ZW61	Anti Tag CoIP	22500027
Intra	BBS7	Q8IWZ6	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	33961781
Intra	BBS7	Q8IWZ6	BBS2	Homo sapiens	Q9BXC9	TAP	27173435
Intra	BBS7	Q8IWZ6	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	28514442
Intra	BBS7	Q8IWZ6	BBS2	Homo sapiens	Q9BXC9	TAP	20080638
Intra	BBS7	Q8IWZ6	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	17574030
Intra	BBS7	Q8IWZ6	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	22500027
Intra	BBS7	Q8IWZ6	JUN	Homo sapiens	P05412	Display Tech	20195357
Intra	BBS7	Q8IWZ6	JUN	Homo sapiens	P05412	TAP	20195357

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01390	BBS7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BBS7	MGD	MGI:1918742
Rattus norvegicus	BBS7	RGD	RGD:1309264
Others	BBS7	NCBI