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BBS10 Bardet-Biedl syndrome 10 [ Homo sapiens (human) ]

Gene ID: 79738, updated on 2-May-2024


Official Symbol
BBS10provided by HGNC
Official Full Name
Bardet-Biedl syndrome 10provided by HGNC
Primary source
See related
Ensembl:ENSG00000179941 MIM:610148; AllianceGenome:HGNC:26291
Gene type
protein coding
RefSeq status
Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
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]
Ubiquitous expression in fat (RPKM 8.6), adrenal (RPKM 7.7) and 24 other tissues See more
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Genomic context

See BBS10 in Genome Data Viewer
Exon count:
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (76344474..76348415, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (76322395..76326336, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76738254..76742195, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lncRNA osteogenesis associated Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76713713-76714305 Neighboring gene RN7SK pseudogene 172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76741501-76742450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76742451-76743400 Neighboring gene oxysterol binding protein like 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:76884201-76884702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6677 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:76924776-76925504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4671 Neighboring gene uncharacterized LOC105369850 Neighboring gene MPRA-validated peak1843 silencer Neighboring gene MPRA-validated peak1844 silencer Neighboring gene ribosomal protein L7a pseudogene 9

Genomic regions, transcripts, and products


  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018


GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem


Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
Bardet-Biedl syndrome 10 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.


  1. NG_016357.1 RefSeqGene

    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1255

mRNA and Protein(s)

  1. NM_024685.4NP_078961.3  Bardet-Biedl syndrome 10 protein

    See identical proteins and their annotated locations for NP_078961.3

    Status: REVIEWED

    Source sequence(s)
    AI673014, BC013795, BC026355, CA414269, DR155669
    Consensus CDS
    Q8TAM1, Q96CW2, Q9H5D2
    ENSP00000497413.1, ENST00000650064.2
    Conserved Domains (1) summary
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly


  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    76344474..76348415 complement
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0


  1. NC_060936.1 Alternate T2T-CHM13v2.0

    76322395..76326336 complement
    GenBank, FASTA, Sequence Viewer (Graphics)