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

Gene ID: 583, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:967
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
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Genomic context

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See BBS2 in Genome Data Viewer
Location:
16q13
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (56470403..56520024, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62265473..62315098, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56504315..56553936, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56396251-56396424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56396447-56396947 Neighboring gene autocrine motility factor receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7507 Neighboring gene nudix hydrolase 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7508 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 6357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10851 Neighboring gene uncharacterized LOC105371283 Neighboring gene metallothionein 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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?
  1. Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.
    Title: Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.
  2. Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
    Title: Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
  3. Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.
    Title: Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.
  4. Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
    Title: Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
  5. Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction.
    Title: Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.
  6. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother
    Title: Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.
  7. 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.
  8. Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.
    Title: Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
  9. Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome.
    Title: Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
  10. Carrier frequency has been determined for two BBS2 mutations present in the Ashkenazi Jewish population.
    Title: Carrier frequency of two BBS2 mutations in the Ashkenazi population.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bardet-Biedl syndrome 2
MedGen: C2936863 OMIM: 615981 GeneReviews: Bardet-Biedl Syndrome Overview
not available
Retinitis pigmentosa 74
MedGen: C4225281 OMIM: 616562 GeneReviews: Not available
not available

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC20703

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
BBSome complex member BBS2; Bardet-Biedl syndrome 2 protein
Names
bardet-Biedl syndrome 2 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

  1. NG_009312.2 RefSeqGene

    Range
    5001..40640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001377456.1 → NP_001364385.1  BBSome complex member BBS2

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encodes the same protein.
    Source sequence(s)
    AC009155, AC026461, AC092140
    Consensus CDS
    CCDS32451.1
    UniProtKB/Swiss-Prot
    Q96CM0, Q96SN9, Q9BXC9
    UniProtKB/TrEMBL
    A0A804HIE1, A8K0N9
    Related
    ENSP00000507027.1, ENST00000682855.1
    Conserved Domains (3) summary
    pfam14781
    Location:20 → 126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277 → 715
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165 → 272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

  2. NM_031885.5 → NP_114091.4  BBSome complex member BBS2

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encodes the same protein.
    Source sequence(s)
    AC009155, AF342736, DA437930, DB316257
    Consensus CDS
    CCDS32451.1
    UniProtKB/Swiss-Prot
    Q96CM0, Q96SN9, Q9BXC9
    UniProtKB/TrEMBL
    A0A804HIE1, A8K0N9
    Related
    ENSP00000245157.5, ENST00000245157.11
    Conserved Domains (3) summary
    pfam14781
    Location:20 → 126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277 → 715
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165 → 272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RNA

  1. NR_165293.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009155, AC026461, AC092140
    Related
    ENST00000684673.1

  2. NR_165294.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009155, AC026461, AC092140
    Related
    ENST00000682493.1

  3. NR_165295.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009155, AC026461, AC092140
    Related
    ENST00000682429.1

  4. NR_165296.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009155, AC026461, AC092140
    Related
    ENST00000683020.1

  5. NR_165297.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009155, AC026461, AC092140
    Related
    ENST00000683212.1

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    56470403..56520024 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434412.1 → XP_047290368.1  Bardet-Biedl syndrome 2 protein isoform X1

    UniProtKB/TrEMBL
    A0A804HKG1
    Related
    ENSP00000506965.1, ENST00000682348.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    62265473..62315098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313570.1 → XP_054169545.1  Bardet-Biedl syndrome 2 protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXC9.2 GenPept UniProtKB/Swiss-Prot:Q9BXC9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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