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

Summary

Official Symbol: BBS10provided by HGNC
Official Full Name: Bardet-Biedl syndrome 10provided by HGNC
Primary source: HGNC:HGNC:26291
See related: Ensembl:ENSG00000179941 MIM:610148; AllianceGenome:HGNC:26291
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C12orf58
Summary: 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]
Expression: Ubiquitous expression in fat (RPKM 8.6), adrenal (RPKM 7.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (76344474..76348415, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (76322395..76326336, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (76738254..76742195, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.
Title: Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Title: Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
Title: Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
Title: Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
Title: BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
A consanguineous patient with Bardet Biedl syndrome was found to be homozygous for the variant of BBS10: NM_024685.3, c.39_46delGGCGTTGC, p.Ala14GlyfsTer79 (A14Gfs*79). Several other members of the pedigree had obesity or other features associated with this syndrome.
Title: A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome.
In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation
Title: Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A
Title: Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
Title: Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bardet-Biedl syndrome 10 MedGen: C1859568 OMIM: 615987 GeneReviews: Bardet-Biedl Syndrome Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G31485 (e-PCR)
- UniSTS:68120

SGC44443 (e-PCR)
- UniSTS:64425

RH103174 (e-PCR)
- UniSTS:97507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chaperone-mediated protein complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cone retinal bipolar cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuronal action potential	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in response to light stimulus	IEA Inferred from Electronic Annotation more info
involved_in retinal cone cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in retinal rod cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BBSome complex assembly protein BBS10

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.

Genomic

NG_016357.1 RefSeqGene

Range

5028..8969

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1255

mRNA and Protein(s)

NM_024685.4 → NP_078961.3 BBSome complex assembly protein BBS10

See identical proteins and their annotated locations for NP_078961.3

Status: REVIEWED

Source sequence(s)

AI673014, BC013795, BC026355, CA414269, DR155669

Consensus CDS

CCDS9014.2

UniProtKB/Swiss-Prot

Q8TAM1, Q96CW2, Q9H5D2

UniProtKB/TrEMBL

B7Z8Z2

Related

ENSP00000497413.1, ENST00000650064.2

Conserved Domains (1) summary

cl02777
Location:11 → 426

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 ...