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 cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene ... See more...

Aliases for BBS10 Gene

Aliases for BBS10 Gene

  • Bardet-Biedl Syndrome 10 2 3 5
  • Bardet-Biedl Syndrome 10 Protein 3 4
  • C12orf58 3 4
  • Chromosome 12 Open Reading Frame 58 2
  • FLJ23560 2
  • BBS10 5

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 cognitive disability. 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. Gene Ontology (GO) annotations related to this gene include RNA polymerase II repressing transcription factor binding.

UniProtKB/Swiss-Prot Summary for BBS10 Gene

  • Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays 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 BBS10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BBS10 Gene

Genomics for BBS10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BBS10 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
GH12J076346 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.5 +0.5 455 2.9 SP1 HNRNPL CREB1 GATAD2A CTCF ZNF629 PRDM10 ZNF692 POLR2A TARDBP BBS10 KRR1 lnc-ZDHHC17-17 NAP1L1
GH12J076557 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.2 -210.8 -210786 4.8 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 POLR2A BACH1 OSBPL8 LOC105369850 lnc-BBS10-5 ZDHHC17 BBS10 piR-31199-070
GH12J076143 Enhancer 0.9 Ensembl ENCODE 11.2 +204.1 204114 2.6 ZNF692 ZNF776 ZSCAN4 ZNF148 KLF9 RELB EGR1 CTBP1 RUNX3 FOXK2 ENSG00000257941 KRR1 GLIPR1L1 CAPS2 ZDHHC17 BBS10 RPL21P98 RF00026-256 piR-61240-077 NAP1L1
GH12J076469 Enhancer 1 Ensembl ENCODE 10.4 -122.8 -122826 4.1 CTCF ZBTB33 ZNF629 RFX1 BACH1 JUND PHF21A PKNOX1 POLR2A DPF2 BBS10 RF00994-249 MN309486 OSBPL8
GH12J076450 Enhancer 0.9 Ensembl ENCODE 11.2 -101.7 -101686 3.4 IKZF1 JUND FOXA1 HDAC1 CEBPB NFE2 ZNF316 EP400 TRIM24 NCOR1 BBS10 NAP1L1 OSBPL8 LNCOG RF00994-249 MN309486
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBS10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BBS10

Top Transcription factor binding sites by QIAGEN in the BBS10 gene promoter:
  • aMEF-2
  • AP-2gamma
  • C/EBPalpha
  • GCNF
  • GCNF-1
  • GCNF-2
  • MEF-2A
  • Nkx2-2
  • Nkx2-5
  • POU2F1a

Genomic Locations for BBS10 Gene

Genomic Locations for BBS10 Gene
chr12:76,344,474-76,348,415
(GRCh38/hg38)
Size:
3,942 bases
Orientation:
Minus strand
chr12:76,738,254-76,742,222
(GRCh37/hg19)
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 a complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8.
    SequenceCaution:
    • Sequence=AAH13795.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15695.1; 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 BBS10 Gene

Post-translational modifications for BBS10 Gene

  • Ubiquitination at Lys40 and Lys542
  • 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

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

Suggested Antigen Peptide Sequences for BBS10 Gene

GenScript: Design optimal peptide antigens:
  • Bardet-Biedl syndrome 10 protein (BBS10_HUMAN)

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 that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays 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 BBS10 Gene

Gene Ontology (GO) - Molecular Function for BBS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 20080638
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:
  • Bbs10 Bbs10<tm1.2Vmar>
  • Bbs10 Bbs10<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBS10

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. {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 BBS10 gene
Compartment Confidence
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BBS10 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 BBS10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0043254 regulation of protein complex assembly IMP 22500027
GO:0045494 photoreceptor cell maintenance IMP 17980398
GO:0050896 response to stimulus IEA --
GO:0051131 chaperone-mediated protein complex assembly IMP 20080638
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 :
9 NCBI additional mRNA sequence :
1 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 BBS10

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

Expression for BBS10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for BBS10 Gene



Protein tissue co-expression partners for BBS10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BBS10

SOURCE GeneReport for Unigene cluster for BBS10 Gene:

Hs.96322

Evidence on tissue expression from TISSUES for BBS10 Gene

  • Nervous system(4.6)
  • Skin(4.4)
  • Lung(4.3)
  • Kidney(2.2)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS10 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 BBS10: view

Primer 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 30 31
  • 99.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BBS10 30 31
  • 82.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BBS10 30 31
  • 81.34 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bbs10 30 17 31
  • 78.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bbs10 30
  • 76.47 (n)
Oppossum
(Monodelphis domestica)
Mammalia BBS10 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BBS10 30
  • 47.54 (n)
Lizard
(Anolis carolinensis)
Reptilia BBS10 31
  • 37 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bbs10 30
  • 55.23 (n)
Zebrafish
(Danio rerio)
Actinopterygii bbs10 30 31
  • 47.61 (n)
OneToOne
Species where no ortholog for BBS10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 BBS10 Gene

ENSEMBL:
Gene Tree for BBS10 (if available)
TreeFam:
Gene Tree for BBS10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBS10: view image

Paralogs for BBS10 Gene

No data available for Paralogs for BBS10 Gene

Variants for BBS10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BBS10 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
655950 Uncertain Significance: Bardet-Biedl syndrome 76,347,602(-) A/G MISSENSE_VARIANT
658119 Uncertain Significance: Bardet-Biedl syndrome 76,347,099(-) C/T MISSENSE_VARIANT
661491 Pathogenic: Bardet-Biedl syndrome 76,347,539(-) A/AG FRAMESHIFT_VARIANT
684438 Pathogenic: Bardet-Biedl syndrome 10 76,346,114(-) G/C NONSENSE
695237 Likely Benign: Bardet-Biedl syndrome 76,346,573(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BBS10 Gene

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)

Additional Variant Information for BBS10 Gene

Human Gene Mutation Database (HGMD)
BBS10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS10

SNP Genotyping and Copy Number Assay Products

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

Disorders for BBS10 Gene

MalaCards: The human disease database

(30) MalaCards diseases for BBS10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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:20080638, ECO:0000269 PubMed:20120035, ECO:0000269 PubMed:21344540, ECO:0000269 PubMed:23219996, ECO:0000269 PubMed:28808579}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BBS10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Nature genetics 2006) 2 3 4
  2. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. (PMID: 23219996) Khan S … Ahmad W (Gene 2013) 3 4
  3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 41
  4. 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
  5. 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

Products for BBS10 Gene

  • Signalway Proteins for BBS10

Sources for BBS10 Gene