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Aliases for BBS12 Gene

Aliases for BBS12 Gene

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

External Ids for BBS12 Gene

Previous HGNC Symbols for BBS12 Gene

  • C4orf24

Previous GeneCards Identifiers for BBS12 Gene

  • GC04P123874
  • GC04P123653
  • GC04P119380

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.

UniProtKB/Swiss-Prot for BBS12 Gene

  • 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

Additional gene information for BBS12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS12 Gene

Genomics for BBS12 Gene

GeneHancer (GH) Regulatory Elements for BBS12 Gene

Promoters and enhancers for BBS12 Gene
GeneHancer (GH) Identifier GH Type GH
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 650.3 +32.8 32759 2.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B ZNF143 FOS CETN4P BBS12 EXOSC9 SPATA5 KIAA1109 BBS7 ENSG00000273007 TRPC3 LOC727709
GH04J122699 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 -0.2 -151 1 HDGF PKNOX1 ATF1 POLR2B ZNF766 CBX5 GATA2 ATF7 REST ZNF518A BBS12 SPATA5 EXOSC9 ENSG00000237868 FGF2 IL21-AS1 CETN4P IL21
GH04J122763 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +64.4 64361 4 PKNOX1 FOXA2 ARNT DMAP1 IRF4 GTF3C2 TCF12 FOS ATF7 RUNX3 SPATA5 CETN4P FGF2 ENSG00000237868 BBS12 EXOSC9 NUDT6 CCNA2 LOC727709 RPL34P12
GH04J122757 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.2 +57.7 57741 0.9 CTCF ATF1 JUN BACH1 E4F1 RAD21 RFX5 CHAMP1 CC2D1A BRD9 CETN4P BBS12 NUDT6 SPATA5 FGF2 LOC727709 RPL34P12
GH04J122660 Enhancer 1 Ensembl ENCODE 10.6 -38.9 -38944 1.3 HDAC1 ATF1 FOXA2 CEBPG CTBP1 ZNF766 FOXK2 VEZF1 NFE2 TRIM24 IL21-AS1 BBS12 CETN4P FGF2 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for BBS12 Gene

Genomic Locations for BBS12 Gene
44,500 bases
Plus strand
12,242 bases
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:
    Recommended name:
    Bardet-Biedl syndrome 12 protein
    Protein Accession:
    Secondary Accessions:
    • D3DNX5
    • Q7Z342
    • Q7Z482
    • Q8NAB8

    Protein attributes for BBS12 Gene

    710 amino acids
    Molecular mass:
    79085 Da
    Quaternary structure:
    • Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8 (PubMed:20080638). Interacts with MKKS (PubMed:26900326).
    • 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.
    • Sequence=BAC04006.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

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

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

Suggested Antigen Peptide Sequences for BBS12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TCP-1 chaperonin family. BBS12 subfamily.
  • 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:
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.

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 --
GO:0044183 protein binding involved in protein folding IBA --
GO:0051082 unfolded protein binding IBA --
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.

Subcellular locations from

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
cytosol 4
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BBS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005832 chaperonin-containing T-complex IBA --
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:0006458 de novo protein folding IBA --
GO:0042073 intraciliary transport IEA --
GO:0042755 eating behavior IEA --
GO:0045494 photoreceptor cell maintenance IEA --
GO:0045599 negative regulation of fat cell differentiation IMP 22958920
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

Unigene Clusters for BBS12 Gene

Bardet-Biedl syndrome 12:
Representative Sequences:

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
SP2: -

Relevant External Links for BBS12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BBS12 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of BBS12 Gene:


SOURCE GeneReport for Unigene cluster for BBS12 Gene:


Evidence on tissue expression from TISSUES for BBS12 Gene

  • Nervous system(4.3)
  • Spleen(4.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • 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
(Pan troglodytes)
Mammalia BBS12 34 33
  • 98.78 (n)
(Canis familiaris)
Mammalia BBS12 34 33
  • 86.46 (n)
(Bos Taurus)
Mammalia BBS12 34 33
  • 82.86 (n)
(Mus musculus)
Mammalia Bbs12 16 34 33
  • 80.32 (n)
(Rattus norvegicus)
Mammalia Bbs12 33
  • 80.17 (n)
(Monodelphis domestica)
Mammalia BBS12 34
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia BBS12 34
  • 52 (a)
(Gallus gallus)
Aves BBS12 34 33
  • 56.81 (n)
(Anolis carolinensis)
Reptilia BBS12 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs12 33
  • 53.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15612 33
(Danio rerio)
Actinopterygii bbs12 34 33
  • 49.37 (n)
Species where no ortholog for BBS12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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

Paralogs for BBS12 Gene

No data available for Paralogs for BBS12 Gene

Variants for BBS12 Gene

Sequence variations from dbSNP and Humsavar for BBS12 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10027479 benign, conflicting-interpretations-of-pathogenicity, not provided, not specified, Bardet-Biedl syndrome 122,743,273(+) A/C coding_sequence_variant, missense_variant
rs1010403072 syndrome 12 (BBS12) [MIM:615989] 122,743,511(+) G/A/T coding_sequence_variant, missense_variant
rs1057517193 likely-pathogenic, Bardet-Biedl syndrome 12 122,742,972(+) GGG/GG coding_sequence_variant, frameshift
rs1060501473 uncertain-significance, Bardet-Biedl syndrome 122,742,560(+) A/G coding_sequence_variant, missense_variant
rs121918327 pathogenic, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 122,742,955(+) C/T coding_sequence_variant, stop_gained

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

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

- elite association - COSMIC cancer census association via MalaCards
Search BBS12 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for BBS12

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 58
  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 58
  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 58
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for BBS12 Gene

Sources for BBS12 Gene

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