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BBS2 Bardet-Biedl syndrome 2 [ Homo sapiens (human) ]

Gene ID: 583, updated on 15-Jun-2019

Summary

Official Symbol
BBS2provided by HGNC
Official Full Name
Bardet-Biedl syndrome 2provided by HGNC
Primary source
HGNC:HGNC:967
See related
Ensembl:ENSG00000125124 MIM:606151
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
BBS; RP74
Summary
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, 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 forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
Expression
Ubiquitous expression in adrenal (RPKM 37.8), brain (RPKM 22.6) and 24 other tissues See more
Orthologs

Genomic context

See BBS2 in Genome Data Viewer
Location:
16q13
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (56470403..56520096, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56504301..56554008, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene autocrine motility factor receptor Neighboring gene nudix hydrolase 21 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 1 Neighboring gene uncharacterized LOC105371283 Neighboring gene metallothionein 4

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20703

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
adult behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
artery smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
hippocampus development ISS
Inferred from Sequence or Structural Similarity
more info
 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of appetite by leptin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of multicellular organism growth ISS
Inferred from Sequence or Structural Similarity
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to organelle ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cilium beat frequency involved in ciliary motility ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
striatum development ISS
Inferred from Sequence or Structural Similarity
more info
 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BBSome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BBSome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stereocilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 2 protein

NCBI Reference Sequences (RefSeq)

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_009312.1 RefSeqGene

    Range
    5188..40937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_031885.4NP_114091.3  Bardet-Biedl syndrome 2 protein

    See identical proteins and their annotated locations for NP_114091.3

    Status: REVIEWED

    Source sequence(s)
    AC092140, AF342736, DA437930, DB316257
    Consensus CDS
    CCDS32451.1
    UniProtKB/Swiss-Prot
    Q9BXC9
    Related
    ENSP00000245157.5, ENST00000245157.10
    Conserved Domains (3) summary
    pfam14781
    Location:20161
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277715
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:163272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    56470403..56520095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256080.2XP_005256137.1  Bardet-Biedl syndrome 2 protein isoform X1

    Conserved Domains (3) summary
    pfam14781
    Location:20161
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277715
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:163272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RNA

  1. XR_001751961.1 RNA Sequence

  2. XR_001751960.1 RNA Sequence

  3. XR_001751959.2 RNA Sequence

  4. XR_933380.2 RNA Sequence

  5. XR_001751958.1 RNA Sequence

  6. XR_933379.1 RNA Sequence

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