BBS10 - Bardet-Biedl syndrome 10 Gene

Also Known as C12orf58

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79738

About BBS10

Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38): 12:76,344,474-76,348,415 (from NCBI)

This gene has 1 transcript (splice variant), 185 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 8.6), adrenal (RPKM 7.7) 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 progressive retinal degeneration, 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 is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of Other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]

BBS10 Products (1)

mRNA	Protein	Name
NM_024685.4	NP_078961.3	Bardet-Biedl syndrome 10 protein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	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	20080638	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within chaperone-mediated protein complex assembly	IMP IMP: Inferred from mutant phenotype	20080638	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	17980398	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	17980398	GOA
acts upstream of or within regulation of protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	22500027	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

BBS10 Protein Structure

Cpn60_TCP1

0
200
400
600
723 a.a.

Protein Preferred Names	Protein Names
Bardet-Biedl syndrome 10 protein

BBS10 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BBS10	Q8TAM1	BBS7	Homo sapiens	Q8IWZ6	GMS	20080638
Intra	BBS10	Q8TAM1	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	20080638
Intra	BBS10	Q8TAM1	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	20080638
Intra	BBS10	Q8TAM1	BBS12	Homo sapiens	Q6ZW61	GMS	20080638
Intra	BBS10	Q8TAM1	BBS12	Homo sapiens	Q6ZW61	Anti Tag CoIP	20080638

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bardet-Biedl Syndrome 10	BBS10 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 10
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
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
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 3 Saldino-Noonan Syndrome SRTD3 Atd3 Srps1 Srps3 Verma-Naumoff Syndrome Srps2b Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Rib-Polydactyly Syndrome, Type I Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly With Neonatal Chondrodystrophy, Type Iii Short Rib-Polydactyly Syndrome, Type Iib Short Rib-Polydactyly Syndrome Type 3 Polydactyly With Neonatal Chondrodystrophy Type Iii Short Rib-Polydactyly Syndrome Type Iii Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Majewski Syndrome Short Rib-Polydactyly Syndrome, Type Iii Type I Short Rib Polydactyly Syndrome Srps Type 3 Short Rib Polydactyly Syndrome Verma Naumoff Type Verma Naumoff Syndrome Polydactyly With Neonatal Chondrodystrophy Type 1 Srps Type 1 Short Rib-Polydactyly Syndrome Saldino-Noonan Type Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 3 Polydactyly With Neonatal Chondrodystrophy Type I Short Rib-Polydactyly Syndrome Type I Short Rib-Polydactyly Syndrome Type Iib Srps Type Iib Srps Type Iii
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
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
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Bardet-Biedl Syndrome 19	BBS19 Bardet-Biedl Syndrome, Type 19
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
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Congenital Stationary Night Blindness Autosomal Dominant 3 CSNBAD3 Night Blindness, Congenital Stationary, Nougaret Type Nougaret Type Congenital Stationary Night Blindness Congenital Stationary Night Blindness Nougaret Type Hemeralopia Congenital Essential Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
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 12	BBS12 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 12
Bardet-Biedl Syndrome 17	BBS17 Bardet-Biedl Syndrome, Type 17
Laurence-Moon Syndrome	LNMS Laurence-Moon-Biedl Syndrome
Retinal Degeneration	Degeneration Of Retina
Bardet-Biedl Syndrome 3	BBS3 Bardet-Biedl Syndrome, Type 3
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
Phosphoglycerate Dehydrogenase Deficiency	Phgdh Deficiency 3-Phosphoglycerate Dehydrogenase Deficiency PHGDHD 3-Pgdh Deficiency 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form Phgdh Deficiency, Infantile/Juvenile Form Deficiency, Phosphoglycerate Dehydrogenase
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
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
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
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
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
Brachydactyly
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
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
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
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
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
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
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01385	BBS10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BBS10	MGD	MGI:1919019
Rattus norvegicus	BBS10	RGD	RGD:1560748