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

Gene ID: 166379, updated on 12-Dec-2014
Official Symbol
BBS12provided by HGNC
Official Full Name
Bardet-Biedl syndrome 12provided by HGNC
Primary source
HGNC:HGNC:26648
See related
Ensembl:ENSG00000181004; HPRD:08759; MIM:610683; Vega:OTTHUMG00000133070
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]
See BBS12 in Epigenomics, MapViewer
Location:
4q27
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (122732702..122744943)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123653857..123666098)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene IL21 antisense RNA 1 Neighboring gene interleukin 21 Neighboring gene DNA-damage regulated autophagy modulator 1 pseudogene Neighboring gene centrin EF-hand protein 4, pseudogene Neighboring gene ribosomal protein L34 pseudogene 12 Neighboring gene ribosomal protein S26 pseudogene 23 Neighboring gene fibroblast growth factor 2 (basic)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Clone Names

  • FLJ35630, FLJ41559

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
chaperone-mediated protein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Bardet-Biedl syndrome 12 protein
Names
Bardet-Biedl syndrome 12 protein

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_021203.1 

    Range
    5001..17242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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
    Q6ZW61
    Related
    ENSP00000438273, ENST00000542236
    Conserved Domains (1) summary
    cl02777
    Location:310564
    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_152618.2NP_689831.2  Bardet-Biedl syndrome 12 protein

    See proteins identical to 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
    Q6ZW61
    Related
    ENSP00000319062, OTTHUMP00000164085, ENST00000314218, OTTHUMT00000256710
    Conserved Domains (1) summary
    cl02777
    Location:310564
    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    122732702..122744943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    123630328..123642572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    119380599..119392841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)