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] See more...

Aliases for BBS9 Gene

Aliases for BBS9 Gene

  • Bardet-Biedl Syndrome 9 2 3 5
  • PTHB1 2 3 4
  • Parathyroid Hormone-Responsive B1 Gene Protein 3 4
  • Bardet-Biedl Syndrome 9 Protein 3 4
  • Protein PTHB1 3 4
  • B1 2 3
  • Parathyroid Hormone Responsive B1 Gene 2
  • PTH-Responsive Osteosarcoma B1 Protein 3
  • BBS9 5
  • C18 3
  • D1 3

External Ids for BBS9 Gene

Previous GeneCards Identifiers for BBS9 Gene

  • GC07P033136
  • GC07P033048
  • GC07P033168
  • GC07P033130

Summaries for BBS9 Gene

Entrez Gene Summary for BBS9 Gene

  • 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]

GeneCards Summary for BBS9 Gene

BBS9 (Bardet-Biedl Syndrome 9) is a Protein Coding gene. Diseases associated with BBS9 include Bardet-Biedl Syndrome 9 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

UniProtKB/Swiss-Prot Summary for BBS9 Gene

  • The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.

Gene Wiki entry for BBS9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BBS9 Gene

Genomics for BBS9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BBS9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBS9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BBS9

Top Transcription factor binding sites by QIAGEN in the BBS9 gene promoter:
  • AML1a
  • c-Myb
  • CUTL1
  • FOXC1
  • GCNF-2
  • MRF-2

Genomic Locations for BBS9 Gene

Genomic Locations for BBS9 Gene
chr7:33,109,557-33,877,180
(GRCh38/hg38)
Size:
767,624 bases
Orientation:
Plus strand
chr7:33,168,856-33,645,680
(GRCh37/hg19)
Size:
476,825 bases
Orientation:
Plus strand

Genomic View for BBS9 Gene

Genes around BBS9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS9 Gene

Proteins for BBS9 Gene

  • Protein details for BBS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SYG4-PTHB1_HUMAN
    Recommended name:
    Protein PTHB1
    Protein Accession:
    Q3SYG4
    Secondary Accessions:
    • E9PDC9
    • P78514
    • Q7KYS6
    • Q7KYS7
    • Q8N570
    • Q99844
    • Q99854
    • Q9Y699
    • Q9Y6A0

    Protein attributes for BBS9 Gene

    Size:
    887 amino acids
    Molecular mass:
    99280 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.
    SequenceCaution:
    • Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera.; Evidence={ECO:0000305}; Sequence=AAD25981.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BBS9 Gene

    Alternative splice isoforms for BBS9 Gene

neXtProt entry for BBS9 Gene

Post-translational modifications for BBS9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BBS9 Gene

Domains & Families for BBS9 Gene

Gene Families for BBS9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BBS9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BBS9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33098 fis, clone TRACH2000780, highly similar to Parathyroid hormone-responsiveB1 gene protein (B3KQ86_HUMAN)
  • Parathyroid hormone-responsive B1 gene protein (PTHB1_HUMAN)
genes like me logo Genes that share domains with BBS9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BBS9 Gene

Function for BBS9 Gene

Molecular function for BBS9 Gene

UniProtKB/Swiss-Prot Function:
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.
UniProtKB/Swiss-Prot Induction:
Down-regulated by parathyroid hormone.

Phenotypes From GWAS Catalog for BBS9 Gene

Gene Ontology (GO) - Molecular Function for BBS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 17574030
genes like me logo Genes that share ontologies with BBS9: view
genes like me logo Genes that share phenotypes with BBS9: view

Human Phenotype Ontology for BBS9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBS9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BBS9 Gene

Localization for BBS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS9 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBS9 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 4
nucleus 3
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BBS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 22139371
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with BBS9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBS9 Gene

Pathways & Interactions for BBS9 Gene

genes like me logo Genes that share pathways with BBS9: view

Gene Ontology (GO) - Biological Process for BBS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
GO:0045444 fat cell differentiation ISS --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with BBS9: view

No data available for SIGNOR curated interactions for BBS9 Gene

Drugs & Compounds for BBS9 Gene

(2) Drugs for BBS9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BBS9: view

Transcripts for BBS9 Gene

mRNA/cDNA for BBS9 Gene

16 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBS9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBS9 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18
SP1: - - - - - -
SP2: - -
SP3: -
SP4: - -
SP5: -

Relevant External Links for BBS9 Gene

GeneLoc Exon Structure for
BBS9

Expression for BBS9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BBS9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS9 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (51.1) and Retina (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BBS9 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BBS9

SOURCE GeneReport for Unigene cluster for BBS9 Gene:

Hs.372360

mRNA Expression by UniProt/SwissProt for BBS9 Gene:

Q3SYG4-PTHB1_HUMAN
Tissue specificity: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.

Evidence on tissue expression from TISSUES for BBS9 Gene

  • Nervous system(4.8)
  • Spleen(4.4)
  • Eye(2.5)
  • Lung(2.4)
  • Kidney(2.4)
  • Skin(2.3)
  • Liver(2.2)
  • Muscle(2.1)
  • Blood(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BBS9: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for BBS9 Gene

Orthologs for BBS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BBS9 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BBS9 30 31
  • 91.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BBS9 30 31
  • 90.57 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bbs9 30 17 31
  • 84.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bbs9 30
  • 83.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia BBS9 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BBS9 30 31
  • 74.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BBS9 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bbs9 30
  • 70.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii bbs9 30 31
  • 63.15 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG15666 30 31
  • 43.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006166 30
  • 42.91 (n)
Worm
(Caenorhabditis elegans)
Secernentea bbs-9 30 31
  • 42.59 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for BBS9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BBS9 Gene

ENSEMBL:
Gene Tree for BBS9 (if available)
TreeFam:
Gene Tree for BBS9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBS9: view image

Paralogs for BBS9 Gene

No data available for Paralogs for BBS9 Gene

Variants for BBS9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BBS9 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
636153 Likely Pathogenic: Retinitis pigmentosa 33,152,703(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
638414 Uncertain Significance: not specified 33,357,861(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
640590 Uncertain Significance: Bardet-Biedl syndrome 33,152,726(+) G/A INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
647266 Uncertain Significance: Bardet-Biedl syndrome 33,383,787(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
648354 Uncertain Significance: Bardet-Biedl syndrome 33,273,076(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for BBS9 Gene

Structural Variations from Database of Genomic Variants (DGV) for BBS9 Gene

Variant ID Type Subtype PubMed ID
dgv1080e201 CNV deletion 23290073
dgv1097n67 CNV loss 20364138
dgv11272n54 CNV gain 21841781
dgv1278e214 CNV gain 21293372
dgv1880e212 CNV gain 25503493
dgv3523n106 CNV deletion 24896259
dgv6319n100 CNV gain 25217958
dgv808n27 CNV gain 19166990
esv1937243 CNV deletion 18987734
esv22864 CNV loss 19812545
esv2633060 CNV deletion 19546169
esv2657892 CNV deletion 23128226
esv2672273 CNV deletion 23128226
esv2674206 CNV deletion 23128226
esv2734230 CNV deletion 23290073
esv2734231 CNV deletion 23290073
esv2734232 CNV deletion 23290073
esv2761318 CNV gain 21179565
esv3306536 CNV mobile element insertion 20981092
esv3307621 CNV mobile element insertion 20981092
esv3308029 CNV mobile element insertion 20981092
esv3359558 CNV insertion 20981092
esv3362907 CNV insertion 20981092
esv3426809 CNV insertion 20981092
esv3428148 CNV insertion 20981092
esv3446464 CNV insertion 20981092
esv3541450 CNV deletion 23714750
esv3541451 CNV deletion 23714750
esv3571726 CNV loss 25503493
esv3571727 CNV loss 25503493
esv3571728 CNV loss 25503493
esv3571729 CNV loss 25503493
esv3612750 OTHER inversion 21293372
esv3612760 CNV loss 21293372
esv3612765 CNV loss 21293372
esv3612768 CNV loss 21293372
esv5341 CNV loss 18987735
esv7559 CNV loss 19470904
esv7864 CNV loss 19470904
esv992894 CNV loss 20482838
nsv1029220 CNV gain 25217958
nsv1135982 CNV deletion 24896259
nsv1150079 CNV deletion 26484159
nsv1161516 CNV duplication 26073780
nsv436907 CNV insertion 17901297
nsv464424 CNV loss 19166990
nsv476048 CNV novel sequence insertion 20440878
nsv508450 CNV deletion 20534489
nsv511958 CNV loss 21212237
nsv520406 CNV gain 19592680
nsv520794 CNV loss 19592680
nsv521481 CNV loss 19592680
nsv523799 CNV loss 19592680
nsv523843 CNV loss 19592680
nsv523888 CNV loss 19592680
nsv524473 CNV loss 19592680
nsv528526 CNV loss 19592680
nsv606610 CNV loss 21841781
nsv606611 CNV loss 21841781
nsv819841 CNV loss 19587683
nsv824058 CNV loss 20364138
nsv830942 CNV gain 17160897
nsv830943 CNV gain 17160897
nsv830944 CNV gain 17160897
nsv830945 CNV loss 17160897

Variation tolerance for BBS9 Gene

Residual Variation Intolerance Score: 32.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.96; 84.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBS9 Gene

Human Gene Mutation Database (HGMD)
BBS9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS9 Gene

Disorders for BBS9 Gene

MalaCards: The human disease database

(25) MalaCards diseases for BBS9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 9
  • bbs9
bardet-biedl syndrome
  • biedl-bardet syndrome
bardet-biedl syndrome 1
  • bbs1
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search BBS9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTHB1_HUMAN
  • Note=A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN. {ECO:0000269 PubMed:12618763}.
  • Bardet-Biedl syndrome 9 (BBS9) [MIM:615986]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:16380913, ECO:0000269 PubMed:26085087}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BBS9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BBS9: view

No data available for Genatlas for BBS9 Gene

Publications for BBS9 Gene

  1. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (PMID: 16380913) Nishimura DY … Sheffield VC (American journal of human genetics 2005) 2 3 4 23
  2. Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. (PMID: 18349106) Kang H … Kwack K (Human reproduction (Oxford, England) 2008) 3 23 41
  3. The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. (PMID: 12618763) Vernon EG … Brown KW (Oncogene 2003) 3 4 23
  4. Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells. (PMID: 10221542) Adams AE … Suva LJ (Bone 1999) 2 3 4
  5. Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). (PMID: 26085087) Knockenhauer KE … Schwartz TU (The Journal of biological chemistry 2015) 3 4

Products for BBS9 Gene

  • Signalway Proteins for BBS9

Sources for BBS9 Gene