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

Gene ID: 583, updated on 8-Jul-2021

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
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Genomic context

See BBS2 in Genome Data Viewer
Location:
16q13
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (56470403..56520095, complement)
105.20201022 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 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 Functions

What's a GeneRIF?

Pathways from PubChem

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
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 brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
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 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 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 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
PubMed 
part_of BBSome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

Preferred 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_001377456.1NP_001364385.1  Bardet-Biedl syndrome 2 protein

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encodes the same protein.
    Source sequence(s)
    AC009155, AC026461, AC092140
    Related
    ENSP00000507027.1, ENST00000682855.1
    Conserved Domains (3) summary
    pfam14781
    Location:20126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277715
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  2. NM_031885.5NP_114091.4  Bardet-Biedl syndrome 2 protein

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encodes the same protein.
    Source sequence(s)
    AC009155, AF342736, DA437930, DB316257
    Consensus CDS
    CCDS32451.1
    Related
    ENSP00000245157.5, ENST00000245157.11
    Conserved Domains (3) summary
    pfam14781
    Location:20126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277715
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165272
    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: Homo sapiens Updated Annotation Release 109.20210514

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)

RNA

  1. XR_933379.1 RNA Sequence

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