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 f... See more...

Aliases for BBS12 Gene

Aliases for BBS12 Gene

  • Bardet-Biedl Syndrome 12 2 3 5
  • Bardet-Biedl Syndrome 12 Protein 3 4
  • C4orf24 3 4
  • Truncated Bardet-Biedl Syndrome 12 Protein 3
  • Chromosome 4 Open Reading Frame 24 2
  • FLJ35630 2
  • FLJ41559 2
  • BBS12 5

External Ids for BBS12 Gene

Previous HGNC Symbols for BBS12 Gene

  • C4orf24

Previous GeneCards Identifiers for BBS12 Gene

  • GC04P123874
  • GC04P123653
  • GC04P119380
  • GC04P122732

Summaries for BBS12 Gene

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 Bardet-Biedl Syndrome 12 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. An important paralog of this gene is CCT3.

UniProtKB/Swiss-Prot Summary for BBS12 Gene

  • Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).

Gene Wiki entry for BBS12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BBS12 Gene

Genomics for BBS12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BBS12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J122731 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 +32.8 32766 2.9 SP1 CREB1 PRDM10 REST RFX1 IKZF1 RFX5 CTCF FOS JUND CETN4P lnc-IL21-1 BBS12 SPATA5 EXOSC9 LOC727709 FGF2
GH04J122699 Promoter/Enhancer 1.2 EPDnew ENCODE 600.7 -0.1 -147 1 PRDM10 IKZF1 JUND MTA2 PKNOX1 REST SP1 HDAC1 GTF2F1 SOX6 BBS12 ENSG00000287692 SPATA5 EXOSC9 ENSG00000237868 FGF2 IL21-AS1 CETN4P piR-56580-035 IL21
GH04J122763 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.2 +64.5 64479 3.8 GATAD2A ZNF512 RFX1 KDM1A JUND PKNOX1 KAT8 SP1 BRD9 DPF2 CETN4P FGF2 BBS12 NUDT6 SPATA5 CCNA2 RF00994-764 LOC727709
GH04J122757 Enhancer 1 Ensembl ENCODE dbSUPER 11.2 +57.7 57691 1.1 CTCF REST RAD21 BRD9 MGA SP1 JUN SMC3 FOSL2 RFX5 CETN4P BBS12 NUDT6 SPATA5 FGF2 LOC727709 RF00994-764
GH04J122660 Enhancer 0.9 Ensembl ENCODE 10.6 -38.9 -38937 1.3 HDAC1 SOX6 FOXJ2 EP300 CBX3 ZNF766 HMBOX1 CTBP1 NFE2 FOXK2 IL21-AS1 BBS12 CETN4P FGF2 piR-39098-183 IL21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBS12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BBS12

Top Transcription factor binding sites by QIAGEN in the BBS12 gene promoter:
  • CUTL1
  • FOXO4
  • HFH-1
  • HSF1 (long)
  • HSF1short
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for BBS12 Gene

Genomic Locations for BBS12 Gene
chr4:122,700,437-122,744,943
(GRCh38/hg38)
Size:
44,507 bases
Orientation:
Plus strand
chr4:123,653,857-123,666,098
(GRCh37/hg19)
Size:
12,242 bases
Orientation:
Plus strand

Genomic View for BBS12 Gene

Genes around BBS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS12 Gene

Proteins for BBS12 Gene

  • Protein details for BBS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZW61-BBS12_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 12 protein
    Protein Accession:
    Q6ZW61
    Secondary Accessions:
    • D3DNX5
    • Q7Z342
    • Q7Z482
    • Q8NAB8

    Protein attributes for BBS12 Gene

    Size:
    710 amino acids
    Molecular mass:
    79085 Da
    Quaternary structure:
    • Component of the chaperonin-containing T-complex (TRiC), a heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter (PubMed:20080638). Interacts with MKKS (PubMed:26900326).
    SequenceCaution:
    • Sequence=BAC04006.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    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 in the pathogenesis of obesity in BBS.

neXtProt entry for BBS12 Gene

Post-translational modifications for BBS12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBS12 Gene

No data available for DME Specific Peptides for BBS12 Gene

Domains & Families for BBS12 Gene

Gene Families for BBS12 Gene

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

Suggested Antigen Peptide Sequences for BBS12 Gene

GenScript: Design optimal peptide antigens:
  • Bardet-Biedl syndrome 12 protein (BBS12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZW61

UniProtKB/Swiss-Prot:

BBS12_HUMAN :
  • Belongs to the TCP-1 chaperonin family. BBS12 subfamily.
Family:
  • Belongs to the TCP-1 chaperonin family. BBS12 subfamily.
genes like me logo Genes that share domains with BBS12: view

Function for BBS12 Gene

Molecular function for BBS12 Gene

UniProtKB/Swiss-Prot Function:
Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).

Phenotypes From GWAS Catalog for BBS12 Gene

Gene Ontology (GO) - Molecular Function for BBS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20080638
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with BBS12: view
genes like me logo Genes that share phenotypes with BBS12: view

Human Phenotype Ontology for BBS12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS12 Gene

MGI Knock Outs for BBS12:

Animal Model Products

CRISPR Products

miRNA for BBS12 Gene

miRTarBase miRNAs that target BBS12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBS12

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BBS12 Gene

Localization for BBS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS12 Gene

Cell projection, cilium. Note=Located within the basal body of the primary cilium of differentiating preadipocytes. {ECO:0000269 PubMed:19190184}.

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 BBS12 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for BBS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with BBS12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBS12 Gene

Pathways & Interactions for BBS12 Gene

genes like me logo Genes that share pathways with BBS12: view

Gene Ontology (GO) - Biological Process for BBS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042073 intraciliary transport IEA --
GO:0042755 eating behavior IEA --
GO:0045494 photoreceptor cell maintenance IEA,IBA 21873635
GO:0045599 negative regulation of fat cell differentiation IMP 22958920
GO:0051131 chaperone-mediated protein complex assembly IMP 20080638
genes like me logo Genes that share ontologies with BBS12: view

No data available for SIGNOR curated interactions for BBS12 Gene

Drugs & Compounds for BBS12 Gene

No Compound Related Data Available

Transcripts for BBS12 Gene

mRNA/cDNA for BBS12 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 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 BBS12

Alternative Splicing Database (ASD) splice patterns (SP) for BBS12 Gene

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

Relevant External Links for BBS12 Gene

GeneLoc Exon Structure for
BBS12

Expression for BBS12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BBS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BBS12

SOURCE GeneReport for Unigene cluster for BBS12 Gene:

Hs.400698

Evidence on tissue expression from TISSUES for BBS12 Gene

  • Nervous system(4.5)
  • Spleen(4.1)
  • Kidney(2.3)
  • Eye(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS12 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 BBS12: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BBS12 Gene

Orthologs for BBS12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBS12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BBS12 30 31
  • 98.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BBS12 30 31
  • 86.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BBS12 30 31
  • 82.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bbs12 30 17 31
  • 80.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bbs12 30
  • 80.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia BBS12 31
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BBS12 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BBS12 30 31
  • 56.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BBS12 31
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bbs12 30
  • 53.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15612 30
Zebrafish
(Danio rerio)
Actinopterygii bbs12 30 31
  • 49.37 (n)
OneToOne
Species where no ortholog for BBS12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for BBS12 Gene

ENSEMBL:
Gene Tree for BBS12 (if available)
TreeFam:
Gene Tree for BBS12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBS12: view image

Paralogs for BBS12 Gene

Paralogs for BBS12 Gene

genes like me logo Genes that share paralogs with BBS12: view

Variants for BBS12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BBS12 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
627533 Likely Pathogenic: Bardet-Biedl syndrome 12 122,742,142(+) G/A MISSENSE_VARIANT
636151 Likely Pathogenic: Retinitis pigmentosa 122,743,115(+) A/G MISSENSE_VARIANT
636305 Uncertain Significance: Bardet-Biedl syndrome 122,744,021(+) TGTA/T STOP_LOST
657227 Pathogenic: Bardet-Biedl syndrome 122,743,157(+) TA/T FRAMESHIFT_VARIANT
659369 Uncertain Significance: Bardet-Biedl syndrome 122,743,117(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BBS12 Gene

Variation tolerance for BBS12 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.03; 68.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBS12 Gene

Human Gene Mutation Database (HGMD)
BBS12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BBS12 Gene

Disorders for BBS12 Gene

MalaCards: The human disease database

(27) MalaCards diseases for BBS12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 12
  • bbs12
bardet-biedl syndrome
  • biedl-bardet syndrome
polydactyly, postaxial, type a1
  • papa1
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search BBS12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS12_HUMAN
  • Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]: 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:17160889, ECO:0000269 PubMed:20080638, ECO:0000269 PubMed:20120035, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with BBS12: view

No data available for Genatlas for BBS12 Gene

Publications for BBS12 Gene

  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. (PMID: 17160889) Stoetzel C … Dollfus H (American journal of human genetics 2007) 2 3 4
  2. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. (PMID: 26900326) Hulleman JD … Mootha VV (Molecular vision 2016) 3 4
  3. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S … Sheffield VC (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  4. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (PMID: 19190184) Marion V … Dollfus H (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for BBS12 Gene

Sources for BBS12 Gene