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Aliases for BBS12 Gene

Aliases for BBS12 Gene

  • Bardet-Biedl Syndrome 12 2 3
  • C4orf24 3 4 6
  • Chromosome 4 Open Reading Frame 24 2
  • Bardet-Biedl Syndrome 12 Protein 3
  • FLJ35630 6

External Ids for BBS12 Gene

Previous Symbols for BBS12 Gene

  • C4orf24

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 bbs12-related bardet-biedl syndrome.

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

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

Genomics for BBS12 Gene

Genomic Location for BBS12 Gene

Start:
122,732,702 bp from pter
End:
122,744,943 bp from pter
Size:
12,242 bases
Orientation:
Plus strand

Genomic View for BBS12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS12 Gene

Regulatory Elements 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 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
    SequenceCaution:
    • Sequence=BAC04006.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for BBS12 Gene

Proteomics data for BBS12 Gene at MOPED

Post-translational modifications for BBS12 Gene

No Post-translational modifications

Other Protein References for BBS12 Gene

No data available for DME Specific Peptides for BBS12 Gene

Domains for BBS12 Gene

Gene Families for BBS12 Gene

HGNC:
  • CHAP :Heat Shock Proteins / Chaperonins

Protein Domains for BBS12 Gene

UniProtKB/Swiss-Prot:

BBS12_HUMAN
Family:
  • Belongs to the TCP-1 chaperonin family. BBS12 subfamily.:
    • Q6ZW61
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.

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

miRNA for BBS12 Gene

miRTarBase miRNAs that target BBS12

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for BBS12 Gene COMPARTMENTS Subcellular localization image for BBS12 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BBS12 Gene

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

Pathways for BBS12 Gene

SuperPathways for BBS12 Gene

No Data Available

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:0044267 cellular protein metabolic process --
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 Pathways by source for BBS12 Gene

Transcripts for BBS12 Gene

Unigene Clusters for BBS12 Gene

Bardet-Biedl syndrome 12:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BBS12

Expression for BBS12 Gene

mRNA expression in normal human tissues for BBS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for BBS12 Gene Hs.400698

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

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 36
  • 98.78 (n)
  • 98.31 (a)
BBS12 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BBS12 36
  • 82.86 (n)
  • 75 (a)
BBS12 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS12 36
  • 86.46 (n)
  • 79.27 (a)
BBS12 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs12 36
  • 80.32 (n)
  • 69.07 (a)
Bbs12 16
Bbs12 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BBS12 37
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBS12 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs12 36
  • 80.17 (n)
  • 70.82 (a)
chicken
(Gallus gallus)
Aves BBS12 36
  • 56.81 (n)
  • 47.43 (a)
BBS12 37
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS12 37
  • 43 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15612 36
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs12 36
  • 53.02 (n)
  • 42.43 (a)
zebrafish
(Danio rerio)
Actinopterygii bbs12 36
  • 49.37 (n)
  • 39.39 (a)
bbs12 37
  • 29 (a)
OneToOne
Species with no ortholog for BBS12:
  • 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

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

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 Sequence Context AA Info Type MAF
rs309360 -- 122,736,458(+) GCATG(G/T)CTTAT intron-variant
rs309361 -- 122,736,823(+) TTTAT(A/T)TTATG intron-variant
rs309362 -- 122,736,999(+) TTTGC(C/T)TATAC intron-variant
rs309363 -- 122,737,014(+) GTTTT(C/G)TTTAA intron-variant
rs309364 -- 122,737,704(+) ttatg(A/G)acata intron-variant

Relevant External Links for BBS12 Gene

HapMap Linkage Disequilibrium report
BBS12
Human Gene Mutation Database (HGMD)
BBS12
Locus Specific Mutation Databases (LSDB)
BBS12

No data available for Structural Variations from Database of Genomic Variants (DGV) for BBS12 Gene

Disorders for BBS12 Gene

(1) OMIM Diseases for BBS12 Gene (610683)

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:20120035, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for BBS12 Gene

Relevant External Links for BBS12

GeneTests
BBS12
GeneReviews
BBS12
genes like me logo Genes that share disorders with BBS12: view

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. (Am. J. Hum. Genet. 2007) 2 3 4
  2. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (PMID: 19190184) Marion V. … Dollfus H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4
  3. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S. … Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for BBS12 Gene

Sources for BBS12 Gene

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