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BBS12 Gene

protein-coding   GIFtS: 50
GCID: GC04P123653

Bardet-Biedl Syndrome 12

(Previous name: chromosome 4 open reading frame 24)
(Previous symbol: C4orf24)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bardet-Biedl Syndrome 121 2
C4orf241 2 3 5
Chromosome 4 Open Reading Frame 241
Bardet-Biedl Syndrome 12 Protein2
FLJ356305

External Ids:    HGNC: 266481   Entrez Gene: 1663792   Ensembl: ENSG000001810047   OMIM: 6106835   UniProtKB: Q6ZW613   

Export aliases for BBS12 gene to outside databases

Previous GC identifers: GC04P123874 GC04P119380


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BBS12 Gene:
The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded
protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role
in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript
variants encoding the same protein have been found for this gene. (provided by RefSeq, May 2010)

GeneCards Summary for BBS12 Gene:
BBS12 (Bardet-Biedl syndrome 12) is a protein-coding gene. Diseases associated with BBS12 include bbs12-related bardet-biedl syndrome, and bardet-biedl syndrome 12.

UniProtKB/Swiss-Prot: BBS12_HUMAN, Q6ZW61
Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the
BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating
transports vesicles to the cilia. Involved in adipogenic differentiation

Gene Wiki entry for BBS12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the BBS12 gene promoter:
         HSF1 (long)   CUTL1   NF-AT   NF-AT4   NF-AT2   HFH-1   FOXO4   NF-AT3   HSF1short   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS12 promoter sequence
   Search Chromatin IP Primers for BBS12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BBS12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q27   Ensembl cytogenetic band:  4q27   HGNC cytogenetic band: 4q27

BBS12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS12 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P123653:  view genomic region     (about GC identifiers)

Start:
123,653,857 bp from pter      End:
123,666,098 bp from pter
Size:
12,242 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BBS12_HUMAN, Q6ZW61 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 12 protein  
Size: 710 amino acids; 79085 Da
Subunit: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5
AND CCT8
Miscellaneous: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for
fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of
adipogenesis participates to the pathogenesis of obesity in BBS
Sequence caution: Sequence=BAC04006.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: D3DNX5 Q7Z342 Q7Z482 Q8NAB8

Explore the universe of human proteins at neXtProt for BBS12: NX_Q6ZW61

Explore proteomics data for BBS12 at MOPED


See BBS12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001171478.1  NP_689831.2  

ENSEMBL proteins: 
 ENSP00000319062   ENSP00000398912   ENSP00000438273  

BBS12 Human Recombinant Protein Products:

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Cloud-Clone Corp. CLIAs for BBS12


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
CHAP: Heat Shock Proteins / Chaperonins

3 InterPro protein domains:
 IPR027409 GroEL-like_apical_dom
 IPR002423 Cpn60/TCP-1
 IPR027413 GROEL-like_equatorial

Graphical View of Domain Structure for InterPro Entry Q6ZW61

ProtoNet protein and cluster: Q6ZW61

UniProtKB/Swiss-Prot: BBS12_HUMAN, Q6ZW61
Similarity: Belongs to the TCP-1 chaperonin family. BBS12 subfamily


BBS12 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: BBS12_HUMAN, Q6ZW61
Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the
BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating
transports vesicles to the cilia. Involved in adipogenic differentiation

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
GO:0005524ATP binding IEA--
     
BBS12 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for BBS12:
 Increased S DNA content 

     9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bbs12):
 adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  immune system 
 nervous system  renal/urinary system  skeleton  vision/eye 

BBS12 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BBS12
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS12
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miRNA
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miRTarBase miRNAs that target BBS12:
hsa-mir-23b-3p (MIRT046329)

Block miRNA regulation of human, mouse, rat BBS12 using miScript Target Protectors
8 qRT-PCR Assays for microRNAs that regulate BBS12:
hsa-miR-3140-3p hsa-miR-3647-3p hsa-miR-3137 hsa-miR-370 hsa-miR-194 hsa-miR-802 hsa-miR-548u hsa-miR-664*
SwitchGear 3'UTR luciferase reporter plasmidBBS12 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat BBS12

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GenScript: all cDNA clones in your preferred vector (see all 2): BBS12 (NM_152618)
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS12


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BBS12_HUMAN, Q6ZW61: Cell projection, cilium. Note=Located within the basal body of the primary cilium of
differentiating preadipocytes
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion2
nucleus2
cytosol1
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005929cilium IEA--

BBS12 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BBS12
Interactions:

    Search GeneGlobe Interaction Network for BBS12

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

Selected Interacting proteins for BBS12 (Q6ZW611 ENSP000003190624) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
BBS7Q8IWZ61, ENSP000002644994EBI-6128352,EBI-1806001 STRING: ENSP00000264499
MKKSQ9NPJ11, ENSP000002460624EBI-6128352,EBI-721319 STRING: ENSP00000246062
BBS9Q3SYG41, ENSP000002420674EBI-6128352,EBI-2826852 STRING: ENSP00000242067
BBS10Q8TAM11, ENSP000003769464EBI-6128352,EBI-6128013 STRING: ENSP00000376946
BBS2ENSP000002451574STRING: ENSP00000245157
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0044267cellular protein metabolic process IEA--
GO:0045599negative regulation of fat cell differentiation IMP--
GO:0051131chaperone-mediated protein complex assembly IMP--

BBS12 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for BBS12



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for BBS12 gene (2 alternative transcripts): 
NM_001178007.1  NM_152618.2  

Unigene Cluster for BBS12:

Bardet-Biedl syndrome 12
Hs.400698  [show with all ESTs]
Unigene Representative Sequence: NM_001178007
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000314218(uc003ieu.3) ENST00000433287 ENST00000542236(uc021xrm.1)

miRNA
Products:
     
Block miRNA regulation of human, mouse, rat BBS12 using miScript Target Protectors
8 qRT-PCR Assays for microRNAs that regulate BBS12:
hsa-miR-3140-3p hsa-miR-3647-3p hsa-miR-3137 hsa-miR-370 hsa-miR-194 hsa-miR-802 hsa-miR-548u hsa-miR-664*
SwitchGear 3'UTR luciferase reporter plasmidBBS12 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for BBS12
Predesigned siRNA for gene silencing in human, mouse, rat BBS12
Clone
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GenScript: all cDNA clones in your preferred vector (see all 2): BBS12 (NM_152618)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS12
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS12
Primer
Products:
    
OriGene qPCR primer pairs and template standards for BBS12
OriGene qSTAR qPCR primer pairs in human, mouse for BBS12
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BBS12
  QuantiTect SYBR Green Assays in human, mouse, rat BBS12
  QuantiFast Probe-based Assays in human, mouse, rat BBS12

Additional mRNA sequence: 

AK092949.1 AK123553.1 BC055426.1 BC065708.1 BX538148.1 

3 DOTS entries:

DT.101981052  DT.100735471  DT.95154890 

Selected AceView cDNA sequences (see all 46):

NM_152618 W37243 AW205835 BE350042 CD359068 BM931203 AA421754 BX105161 
AA745881 CA429237 BM712647 AL697804 AK092949 AK123553 BC055426 BI461539 
AI864276 BU657035 AI969474 BC065708 BI548540 BU678215 BI771710 BQ014497 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for BBS12    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:                              
SP2:              -               


ECgene alternative splicing isoforms for BBS12

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BBS12 expression in normal human tissues (normalized intensities)      BBS12 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGTATGCCAC
BBS12 Expression
About this image


BBS12 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Neurons
         Mature Rod Cells Outer Nuclear Layer
 
 Eye (Sensory Organs)
         Mature Rod Cells Outer Nuclear Layer
BBS12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BBS12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.400698
    Custom PCR Arrays for BBS12
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QuantiFast Probe-based Assays in human, mouse, rat BBS12
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS12

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for BBS12 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bbs121 , 5 Bardet-Biedl syndrome 12 (human)1, 5 80.32(n)1
69.07(a)1
  3 (18.41 cM)5
2419501  NM_001008502.21  NP_001008502.21 
 373125545 
chicken
(Gallus gallus)
Aves BBS121 Bardet-Biedl syndrome 12 56.81(n)
47.43(a)
  422667  XM_004941198.1  XP_004941255.1 
lizard
(Anolis carolinensis)
Reptilia BBS126
Bardet-Biedl syndrome 12
43(a)
1 ↔ 1
5(138649239-138651401)
African clawed frog
(Xenopus laevis)
Amphibia Xl.156122 Xenopus laevis transcribed sequences 73.56(n)    BJ060932.1 
zebrafish
(Danio rerio)
Actinopterygii bbs121 Bardet-Biedl syndrome 12 49.37(n)
39.39(a)
  570583  XM_002667206.2  XP_002667252.1 


ENSEMBL Gene Tree for BBS12 (if available)
TreeFam Gene Tree for BBS12 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BBS12 (see all 343)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0629654
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0629652 T M mis40--------
VAR_0662664
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0662662 L R mis40--------
VAR_0662704
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0662702 R Q mis40--------
VAR_0349224
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0349222 P L mis40--------
VAR_0662774
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0662772 R C mis40--------
VAR_0629644
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0629642 I T mis40--------
VAR_0349324
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0349322 G V mis40--------
VAR_0662694
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0662692 Q E mis40--------
VAR_0662714
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0662712 V M mis40--------
VAR_0662754
Bardet-Biedl syndrome 12 (BBS12)4--see VAR_0662752 R H mis40--------

HapMap Linkage Disequilibrium report for BBS12 (123653857 - 123666098 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for BBS12: --
Human Gene Mutation Database (HGMD): BBS12
Locus Specific Mutation Databases (LSDB): BBS12

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing BBS12
DNA2.0 Custom Variant and Variant Library Synthesis for BBS12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610683   
OMIM disorders: 209900  
UniProtKB/Swiss-Prot: BBS12_HUMAN, Q6ZW61
  • Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 13 diseases for BBS12:    About MalaCards
    bbs12-related bardet-biedl syndrome    bardet-biedl syndrome 12    fundus dystrophy    bardet-biedl syndrome
    pigmentary retinopathy    bardet-biedl syndrome, modifier of    polydactyly    obesity
    mental retardation    diabetes mellitus    hypertension    multiple myeloma
    myeloma

    3 diseases from the University of Copenhagen DISEASES database for BBS12:
    Bardet-Biedl syndrome     Polydactyly     Fundus dystrophy

    BBS12 for disorders           About GeneDecksing

    GeneTests: BBS12
    GeneReviews: BBS12

    Export disorders for BBS12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BBS12 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with BBS12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. (PubMed id 17160889)1, 2, 3 Stoetzel C.... Dollfus H. (Am. J. Hum. Genet. 2007)
    2. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (PubMed id 19190184)1, 2 Marion V.... Dollfus H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. (PubMed id 22958920)1 Marion V....Dollfus H. (Cell Metab. 2012)
    5. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PubMed id 21344540)2 Deveault C....Heon E. (Hum. Mutat. 2011)
    6. Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes. (PubMed id 20193073)1 Mukherjee K....Brocchieri L. (BMC Evol. Biol. 2010)
    7. Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. (PubMed id 20827784)1 Dulfer E....van Essen A.J. (Am. J. Med. Genet. A 2010)
    8. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. (PubMed id 20472660)1 Billingsley G....HAcon E. (J. Med. Genet. 2010)
    9. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PubMed id 20080638)2 Seo S....Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    10. Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (PubMed id 20120035)2 Hjortshoj T.D.... Brondum-Nielsen K. (Hum. Mutat. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 166379 HGNC: 26648 AceView: FLJ35630 Ensembl:ENSG00000181004 euGenes: HUgn166379
    ECgene: BBS12 H-InvDB: BBS12

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BBS12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BBS12[genesymbol]

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