U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 166379, updated on 10-Dec-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BBS12 in Genome Data Viewer
Location:
4q27
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122700442..122744939)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (126004448..126049039)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123653859..123666094)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21874 Neighboring gene Sharpr-MPRA regulatory region 4201 Neighboring gene interleukin 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:123495468-123496667 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507 Neighboring gene IL21 antisense RNA 1 Neighboring gene interleukin 21 Neighboring gene Sharpr-MPRA regulatory region 12847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21875 Neighboring gene CRISPRi-validated cis-regulatory element chr4.2649 Neighboring gene DNA damage regulated autophagy modulator 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 2230 Neighboring gene centrin 4, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:123705471-123706466 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123707239-123708438 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:123709565-123710492 Neighboring gene Sharpr-MPRA regulatory region 4773 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:123719262-123720461 Neighboring gene FGF2 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21877 Neighboring gene Sharpr-MPRA regulatory region 10032 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:123749417-123749942 Neighboring gene ribosomal protein L34 pseudogene 12 Neighboring gene ribosomal protein S26 pseudogene 23 Neighboring gene fibroblast growth factor 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ35630, FLJ41559

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

Preferred Names
chaperonin-containing T-complex member BBS12; Bardet-Biedl syndrome 12 protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_021203.2 RefSeqGene

    Range
    37264..49499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178007.2NP_001171478.1  chaperonin-containing T-complex member BBS12

    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:284564
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:22130
    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 ...
  2. NM_152618.3NP_689831.2  chaperonin-containing T-complex member BBS12

    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:284564
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:22130
    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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    122700442..122744939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531680.3XP_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:284564
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:22130
    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 ...

RNA

  1. XR_007096378.1 RNA Sequence

  2. XR_007096379.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    126004448..126049039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349085.1XP_054205060.1  Bardet-Biedl syndrome 12 protein isoform X1

    UniProtKB/Swiss-Prot
    D3DNX5, Q6ZW61, Q7Z342, Q7Z482, Q8NAB8