BBS12 Bardet-Biedl syndrome 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BBS12provided by HGNC
Official Full Name: Bardet-Biedl syndrome 12provided by HGNC
Primary source: HGNC:HGNC:26648
See related: Ensembl:ENSG00000181004 MIM:610683; AllianceGenome:HGNC:26648
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: C4orf24
Summary: 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]
Expression: Broad expression in thyroid (RPKM 5.9), testis (RPKM 4.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q27

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (122700442..122744939)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (126004448..126049039)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (123653859..123666094)

Chromosome 4 - NC_000004.12 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
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?

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Title: Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
novel BBS12 mutations in Bardet-Biedl syndrome patients in Spain
Title: Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
BBS12 inactivation increases glucose absorption by mature human adipocytes, increases insulin sensitivity, enhances glucose absorption and increases triglyceride content.
Title: BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
Mutation in BBS12 accounts for Bardet-Biedl syndrome and termination of pregnancy of a fetus.
Title: Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
Title: Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis
Title: Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
BBS12 accounts for approximately 5% of all BBS cases and defines a novel branch of the type II chaperonin superfamily
Title: Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

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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 12 MedGen: C1859570 OMIM: 615989 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

D4S2648 (e-PCR)
- UniSTS:14382

SHGC-67243 (e-PCR)
- UniSTS:26970

RH102291 (e-PCR)
- UniSTS:96625

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
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 eating behavior	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in intraciliary transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in stem cell differentiation	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: Bardet-Biedl syndrome 12 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_021203.2 RefSeqGene

Range

37264..49499

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001178007.2 → NP_001171478.1 Bardet-Biedl syndrome 12 protein

See identical proteins and their annotated locations for NP_001171478.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.

Source sequence(s)

AC053545, AK123553, BX538148, CD359068

Consensus CDS

CCDS3728.1

UniProtKB/Swiss-Prot

D3DNX5, Q6ZW61, Q7Z342, Q7Z482, Q8NAB8

Related

ENSP00000438273.1, ENST00000542236.5

Conserved Domains (2) summary

pfam00118
Location:284 → 564

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:22 → 130

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 ...
NM_152618.3 → NP_689831.2 Bardet-Biedl syndrome 12 protein

See identical proteins and their annotated locations for NP_689831.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.

Source sequence(s)

AK092949, AK123553, BX538148

Consensus CDS

CCDS3728.1

UniProtKB/Swiss-Prot

D3DNX5, Q6ZW61, Q7Z342, Q7Z482, Q8NAB8

Related

ENSP00000319062.3, ENST00000314218.8

Conserved Domains (2) summary

pfam00118
Location:284 → 564

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:22 → 130

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

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

122700442..122744939

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531680.3 → XP_011529982.1 Bardet-Biedl syndrome 12 protein isoform X1

See identical proteins and their annotated locations for XP_011529982.1

UniProtKB/Swiss-Prot

D3DNX5, Q6ZW61, Q7Z342, Q7Z482, Q8NAB8

Conserved Domains (2) summary

pfam00118
Location:284 → 564

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:22 → 130

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 ...