BBS9 - Bardet-Biedl syndrome 9 Gene

Homo sapiens

Also known as B1; D1; C18; PTHB1

Gene ID: 27241 | Gene type: protein coding

About BBS9

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:33,129,285-33,635,767 (from NCBI)

This gene has 29 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues.

Summary

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]

BBS9 Products(18)

mRNA	Protein	Name
NM_001033604.2	NP_001028776.1	protein PTHB1 isoform 3
NM_001033605.2	NP_001028777.1	protein PTHB1 isoform 4
NM_001348036.1	NP_001334965.1	protein PTHB1 isoform 2
NM_001348037.3	NP_001334966.1	protein PTHB1 isoform 5
NM_001348038.3	NP_001334967.1	protein PTHB1 isoform 6
NM_001348039.3	NP_001334968.1	protein PTHB1 isoform 7
NM_001348040.3	NP_001334969.1	protein PTHB1 isoform 8
NM_001348041.4	NP_001334970.1	protein PTHB1 isoform 9
NM_001348042.3	NP_001334971.1	protein PTHB1 isoform 10
NM_001348043.3	NP_001334972.1	protein PTHB1 isoform 11
NM_001348044.3	NP_001334973.1	protein PTHB1 isoform 12
NM_001348045.3	NP_001334974.1	protein PTHB1 isoform 13
NM_001348046.3	NP_001334975.1	protein PTHB1 isoform 13
NM_001362679.1	NP_001349608.1	protein PTHB1 isoform 14
NM_001412127.2	NP_001399056.1	protein PTHB1 isoform 15
NM_001412128.2	NP_001399057.1	protein PTHB1 isoform 16
NM_014451.4	NP_055266.2	protein PTHB1 isoform 1
NM_198428.3	NP_940820.1	protein PTHB1 isoform 2

BBS9 Protein Structure

PHTB1_N

PHTB1_C

0
200
400
600
800
887 a.a.

Protein Preferred Names

Protein Names

protein PTHB1

PTH-responsive osteosarcoma B1 protein

Related Diseases

Diseases

Alias

Bardet-Biedl Syndrome 9

BBS9	Bardet-Biedl Syndrome, Type 9

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Bardet-Biedl Syndrome 18

BBS18

Bardet-Biedl Syndrome, Type 18

Bardet-Biedl Syndrome 17

BBS17

Bardet-Biedl Syndrome, Type 17

Bardet-Biedl Syndrome 11

BBS11	Bardet-Biedl Syndrome
Bbs	Bardet-Biedl Syndrome, Type 11

Bardet-Biedl Syndrome 19

BBS19

Bardet-Biedl Syndrome, Type 19

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

Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51	Cpsq4
Spastic Quadriplegic Cerebral Palsy 4	Spg51
Spastic Paraplegia 51, Autosomal Recessive

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

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

Nephronophthisis 15

NPHP15

Nephronophthisis, Type 15

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

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

Laurence-Moon Syndrome

LNMS	Laurence-Moon-Biedl Syndrome

Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis	Fgfr3-Related Craniosynostosis
Fgfr3-Associated Coronal Synostosis	Coronal Craniosynostosis
MNKES	Syndrome Of Coronal Craniosynostosis
MNKS	Fgfr3-Related Isolated Coronal Synostosis
Muenke Non-Syndromic Coronal Craniosynostosis

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

Carpenter Syndrome 1

Carpenter Syndrome	Acrocephalopolysyndactyly Type Ii
Acps Ii	CRPT1
Acrocephalopolysyndactyly Type 2	Acrocephalosyndactyly, Type Ii
Acrocephalopolysyndactyly 2	Acps2
Acps 2	Type Ii Acrocephalosyndactyly
Carpenter Syndrome, Type 1	Apert-Crouzon Disease

Saethre-Chotzen Syndrome

SCS	Acs3
Acs Iii	Chotzen Syndrome
Acrocephaly, Skull Asymmetry, And Mild Syndactyly	Acrocephalosyndactyly Type 3
Acrocephalosyndactyly, Type Iii	Acrocephalosyndactyly Type Iii
Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies	Auralcephalosyndactyly
Acs 3	Acrocephalo-Syndactyly, Type 3
Blepharophimosis,Epicanthus Inversus, And Ptosis 3	Aural Cephalosyndactyly
Kurczynski-Casperson Syndrome	Acrocephalosyndactyly Iii
Dysostosis Craniofacialis With Hypertelorism	Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
Sakati Syndrome

Cranioectodermal Dysplasia

Sensenbrenner Syndrome	Levin Syndrome 1
Ced	Levin Syndrome
Dysplasia, Cranioectodermal

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

Crouzon Syndrome

Crouzon Craniofacial Dysostosis	Craniofacial Dysostosis
Cfd1	Craniofacial Dysostosis Type 1
Crouzon Disease	Crouzon'S Disease
Craniofacial Dysostosis, Type I	Craniofacial Dysarthrosis
Craniofacial Dysostosis Syndrome	CS
Craniofacial Dysostosis Type I	Vogt Cephalosyndactyly

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01391	BBS9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BBS9	MGD	MGI:2442833
Rattus norvegicus	BBS9	RGD	RGD:1308472