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Aliases for BBS10 Gene

Aliases for BBS10 Gene

  • Bardet-Biedl Syndrome 10 2 3 5
  • C12orf58 3 4
  • Chromosome 12 Open Reading Frame 58 2

External Ids for BBS10 Gene

Previous HGNC Symbols for BBS10 Gene

  • C12orf58

Previous GeneCards Identifiers for BBS10 Gene

  • GC12M075262
  • GC12M076738
  • GC12M073790

Summaries for BBS10 Gene

Entrez Gene Summary for BBS10 Gene

  • This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]

GeneCards Summary for BBS10 Gene

BBS10 (Bardet-Biedl Syndrome 10) is a Protein Coding gene. Diseases associated with BBS10 include bardet-biedl syndrome 10 and bardet-biedl syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding.

UniProtKB/Swiss-Prot for BBS10 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 BBS10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS10 Gene

Genomics for BBS10 Gene

Regulatory Elements for BBS10 Gene

Promoters for BBS10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BBS10 on UCSC Golden Path with GeneCards custom track

Genomic Location for BBS10 Gene

Chromosome:
12
Start:
76,344,474 bp from pter
End:
76,348,442 bp from pter
Size:
3,969 bases
Orientation:
Minus strand

Genomic View for BBS10 Gene

Genes around BBS10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS10 Gene

Proteins for BBS10 Gene

  • Protein details for BBS10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAM1-BBS10_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 10 protein
    Protein Accession:
    Q8TAM1
    Secondary Accessions:
    • Q96CW2
    • Q9H5D2

    Protein attributes for BBS10 Gene

    Size:
    723 amino acids
    Molecular mass:
    80838 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=AAH13795.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15695.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for BBS10 Gene

Proteomics data for BBS10 Gene at MOPED

Post-translational modifications for BBS10 Gene

  • Ubiquitination at Lys 40 and Lys 542
  • Modification sites at PhosphoSitePlus

Other Protein References for BBS10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BBS10 Gene

Domains & Families for BBS10 Gene

Gene Families for BBS10 Gene

Protein Domains for BBS10 Gene

Suggested Antigen Peptide Sequences for BBS10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAM1

UniProtKB/Swiss-Prot:

BBS10_HUMAN :
  • Belongs to the TCP-1 chaperonin family.
Family:
  • Belongs to the TCP-1 chaperonin family.
genes like me logo Genes that share domains with BBS10: view

Function for BBS10 Gene

Molecular function for BBS10 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 BBS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with BBS10: view
genes like me logo Genes that share phenotypes with BBS10: view

Human Phenotype Ontology for BBS10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS10 Gene

MGI Knock Outs for BBS10:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BBS10 Gene

Localization for BBS10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS10 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 BBS10 Gene COMPARTMENTS Subcellular localization image for BBS10 gene
Compartment Confidence
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for BBS10 Gene

Pathways & Interactions for BBS10 Gene

genes like me logo Genes that share pathways with BBS10: view

Gene Ontology (GO) - Biological Process for BBS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0035058 nonmotile primary cilium assembly IMP 17980398
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with BBS10: view

No data available for SIGNOR curated interactions for BBS10 Gene

Drugs & Compounds for BBS10 Gene

No Compound Related Data Available

Transcripts for BBS10 Gene

mRNA/cDNA for BBS10 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(58) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BBS10 Gene

Bardet-Biedl syndrome 10:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBS10 Gene

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

Relevant External Links for BBS10 Gene

GeneLoc Exon Structure for
BBS10
ECgene alternative splicing isoforms for
BBS10

Expression for BBS10 Gene

mRNA expression in normal human tissues for BBS10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS10 Gene

This gene is overexpressed in Platelet (60.3) and Brain (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BBS10 Gene



SOURCE GeneReport for Unigene cluster for BBS10 Gene Hs.96322

genes like me logo Genes that share expression patterns with BBS10: view

Protein tissue co-expression partners for BBS10 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BBS10 Gene

Orthologs for BBS10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBS10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS10 35
  • 99.68 (n)
  • 99.17 (a)
BBS10 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BBS10 36
  • 73 (a)
OneToOne
BBS10 35
  • 82.59 (n)
  • 72.73 (a)
dog
(Canis familiaris)
Mammalia BBS10 35
  • 81.34 (n)
  • 73.14 (a)
BBS10 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs10 16
Bbs10 36
  • 68 (a)
OneToOne
Bbs10 35
  • 78.29 (n)
  • 68.07 (a)
oppossum
(Monodelphis domestica)
Mammalia BBS10 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs10 35
  • 76.47 (n)
  • 67.23 (a)
chicken
(Gallus gallus)
Aves BBS10 35
  • 47.54 (n)
  • 37.17 (a)
lizard
(Anolis carolinensis)
Reptilia BBS10 36
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs10 35
  • 55.23 (n)
  • 42.12 (a)
zebrafish
(Danio rerio)
Actinopterygii bbs10 36
  • 29 (a)
OneToOne
bbs10 35
  • 47.61 (n)
  • 34.34 (a)
Species with no ortholog for BBS10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 BBS10 Gene

ENSEMBL:
Gene Tree for BBS10 (if available)
TreeFam:
Gene Tree for BBS10 (if available)

Paralogs for BBS10 Gene

No data available for Paralogs for BBS10 Gene

Variants for BBS10 Gene

Sequence variations from dbSNP and Humsavar for BBS10 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_026391 Bardet-Biedl syndrome 10 (BBS10)
VAR_026392 Bardet-Biedl syndrome 10 (BBS10)
VAR_026393 Bardet-Biedl syndrome 10 (BBS10)
VAR_026394 Bardet-Biedl syndrome 10 (BBS10)
VAR_026395 Bardet-Biedl syndrome 10 (BBS10)

Structural Variations from Database of Genomic Variants (DGV) for BBS10 Gene

Variant ID Type Subtype PubMed ID
nsv520195 CNV Gain 19592680

Variation tolerance for BBS10 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS10 Gene

HapMap Linkage Disequilibrium report
BBS10
Human Gene Mutation Database (HGMD)
BBS10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS10 Gene

Disorders for BBS10 Gene

MalaCards: The human disease database

(10) MalaCards diseases for BBS10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 10
  • bbs10
bardet-biedl syndrome
  • biedl-bardet syndrome
bbs10-related bardet-biedl syndrome
  • bardet-biedl syndrome 10
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
bardet-biedl syndrome 19
  • bbs19
- elite association - COSMIC cancer census association via MalaCards
Search BBS10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS10_HUMAN
  • Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]: 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:16582908, ECO:0000269 PubMed:16823392, ECO:0000269 PubMed:20120035, ECO:0000269 PubMed:21344540, ECO:0000269 PubMed:23219996}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BBS10

Genetic Association Database (GAD)
BBS10
Human Genome Epidemiology (HuGE) Navigator
BBS10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS10
genes like me logo Genes that share disorders with BBS10: view

No data available for Genatlas for BBS10 Gene

Publications for BBS10 Gene

  1. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. (PMID: 16582908) Stoetzel C. … Dollfus H. (Nat. Genet. 2006) 2 3 4 67
  2. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. (PMID: 24400638) Sathya Priya C. … Sripriya S. (Clin. Genet. 2015) 3
  3. Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. (PMID: 24611592) Alvarez-Satta M. … Valverde D. (Clin. Genet. 2014) 3
  4. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. (PMID: 25439097) Lim E.T. … Daly M.J. (Am. J. Hum. Genet. 2014) 3
  5. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. (PMID: 23432027) M'hamdi O. … Chaabouni H. (Clin. Genet. 2013) 3

Products for BBS10 Gene

Sources for BBS10 Gene

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