BBS2 - Bardet-Biedl syndrome 2 Gene

Also Known as BBS; RP74

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 583

About BBS2

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:56,470,403-56,520,024 (from NCBI)

This gene has 109 transcripts (splice variants), 199 orthologues and is associated with 6 phenotypes. Ubiquitous expression in adrenal (RPKM 37.8), brain (RPKM 22.6) and 24 other tissues.

Summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven Other BBS proteins.[provided by RefSeq, Oct 2014]

BBS2 Products (2)

mRNA	Protein	Name
NM_001377456.1	NP_001364385.1	Bardet-Biedl syndrome 2 protein
NM_031885.5	NP_114091.4	Bardet-Biedl syndrome 2 protein

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	16189514	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within Golgi to plasma membrane protein transport	IMP IMP: Inferred from mutant phenotype	19150989	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	25541840	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of BBSome	IDA IDA: Inferred from direct assay	17574030	GOA
part of BBSome	IMP IMP: Inferred from mutant phenotype	19150989	GOA
part of BBSome	IPI IPI: Inferred from physical interaction	19081074	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	18299575	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	19081074	GOA
located in motile cilium	IDA IDA: Inferred from direct assay	18299575	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

BBS2 Protein Structure

BBS2_N

BBS2_Mid

BBS2_C

0
200
400
600
721 a.a.

Protein Preferred Names	Protein Names
Bardet-Biedl syndrome 2 protein

BBS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	BBS2	Q9BXC9	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	22500027
Intra	BBS2	Q9BXC9	BBS1	Homo sapiens	Q8NFJ9	TAP	27173435
Intra	BBS2	Q9BXC9	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	22500027
Intra	BBS2	Q9BXC9	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	20080638
Intra	BBS2	Q9BXC9	BBS7	Homo sapiens	Q8IWZ6	TAP	27173435
Intra	BBS2	Q9BXC9	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	17574030
Intra	BBS2	Q9BXC9	BBS7	Homo sapiens	Q8IWZ6-2	Y2H	29039417
Intra	BBS2	Q9BXC9	BBS7	Homo sapiens	Q8IWZ6-2	Lumier	29039417
Intra	BBS2	Q9BXC9	IQCB1	Homo sapiens	Q15051	Anti Bait CoIP	25552655
Intra	BBS2	Q9BXC9	IQCB1	Homo sapiens	Q15051	GMS	25552655
Intra	BBS2	Q9BXC9	BBS9	Homo sapiens	Q3SYG4	Y2H	29039417
Intra	BBS2	Q9BXC9	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	22500027
Intra	BBS2	Q9BXC9	BBS9	Homo sapiens	Q3SYG4	Density Sedimentation	22139371
Intra	BBS2	Q9BXC9	BBS9	Homo sapiens	Q3SYG4	Lumier	29039417
Intra	BBS2	Q9BXC9	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	17574030
Intra	BBS2	Q9BXC9	BBS9	Homo sapiens	Q3SYG4	TAP	27173435
Intra	BBS2	Q9BXC9	PSME3	Homo sapiens	P61289	Y2H Prey Pooling	32296183
Intra	BBS2	Q9BXC9	PSME3	Homo sapiens	P61289	Y2H Array	32296183
Intra	BBS2	Q9BXC9	PSME3	Homo sapiens	P61289	Y2H Pooling	16189514
Intra	BBS2	Q9BXC9	MKKS	Homo sapiens	Q9NPJ1	Anti Tag CoIP	20080638
Intra	BBS2	Q9BXC9	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	25416956
Intra	BBS2	Q9BXC9	MDFI	Homo sapiens	Q99750	Validated Y2H	25416956
Intra	BBS2	Q9BXC9	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	BBS2	Q9BXC9	MDFI	Homo sapiens	Q99750	Y2H Array	25416956
Intra	BBS2	Q9BXC9	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	BBS2	Q9BXC9	RBPMS	Homo sapiens	Q93062	Y2H Prey Pooling	25416956
Intra	BBS2	Q9BXC9	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	BBS2	Q9BXC9	RBPMS	Homo sapiens	Q93062	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bardet-Biedl Syndrome 2	BBS2 Bardet-Biedl Syndrome Bardet-Biedl Syndrome, Type 2 Bbs
Retinitis Pigmentosa 74	RP74 Retinitis Pigmentosa, Type 74
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
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
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
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
Joubert Syndrome 6	JBTS6 Joubert Syndrome, Type 6
Bardet-Biedl Syndrome 18	BBS18 Bardet-Biedl Syndrome, Type 18
Bardet-Biedl Syndrome 14	BBS14 Bardet-Biedl Syndrome 14, Modifier Of Bardet-Biedl Syndrome, Type 14
Bardet-Biedl Syndrome 17	BBS17 Bardet-Biedl Syndrome, Type 17
Bardet-Biedl Syndrome 13	BBS13 Bardet-Biedl Syndrome, Type 13
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
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
Bardet-Biedl Syndrome 19	BBS19 Bardet-Biedl Syndrome, Type 19
Retinitis Pigmentosa 38	RP38 Rod-Cone Dystrophy, Childhood-Onset Retinitis Pigmentosa, Type 38
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
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
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
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]
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Hemoglobin H Disease	HBH Hemoglobin H Disease, Nondeletional Hemoglobin H Disease, Deletional Alpha-Thalassemia Intermedia Haemoglobin H Disease Alpha-Thalassemia, Hemoglobin H Type Hemoglobin H Disease, Deletional And Nondeletional Alpha Thalassemia, Haemoglobin H Type Alpha Thalassemia, Hemoglobin H Type Haemoglobin H Disease, Deletional Hbh Disease Alpha-Thalassemia Hemoglobin H Type Hemoglobin H Disease Deletional Hemoglobin H Disease Non-Deletional Alpha-Thalassemia Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia Alpha Thalassaemia Intermedia
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
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
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
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
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
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
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
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-RS01387	BBS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BBS2	VGNC	VGNC:52181
Rattus norvegicus	BBS2	RGD	RGD:71091
Mus musculus	BBS2	MGD	MGI:2135267