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BBS7 Bardet-Biedl syndrome 7 [ Homo sapiens (human) ]

Gene ID: 55212, updated on 16-Apr-2018
Official Symbol
BBS7provided by HGNC
Official Full Name
Bardet-Biedl syndrome 7provided by HGNC
Primary source
HGNC:HGNC:18758
See related
Ensembl:ENSG00000138686 MIM:607590; Vega:OTTHUMG00000133076
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
BBS2L1
Summary
This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
Expression
Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 3.7) and 24 other tissues See more
Orthologs
Location:
4q27
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (121824329..121870497, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (122745484..122791652, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 155 Neighboring gene uncharacterized LOC100192379 Neighboring gene exosome component 9 Neighboring gene cyclin A2 Neighboring gene transient receptor potential cation channel subfamily C member 3 Neighboring gene uncharacterized LOC102724158 Neighboring gene uncharacterized LOC112268469

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10715

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
brain development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
digestive tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
eye development IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
 
limb development IEA
Inferred from Electronic Annotation
more info
 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
pigment granule aggregation in cell center ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IPI
Inferred from Physical Interaction
more info
PubMed 
primary palate development IEA
Inferred from Electronic Annotation
more info
 
protein localization IBA
Inferred from Biological aspect of Ancestor
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IPI
Inferred from Physical Interaction
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BBSome IBA
Inferred from Biological aspect of Ancestor
more info
 
BBSome IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Bardet-Biedl syndrome 7 protein
Names
BBS2-like 1

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_009111.1 RefSeqGene

    Range
    4991..51159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018190.3NP_060660.2  Bardet-Biedl syndrome 7 protein isoform b

    See identical proteins and their annotated locations for NP_060660.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, and coding region compared to variant 1. The resulting isoform (b) maintains the reading frame but is shorter at the C-terminus, compared to isoform a.
    Source sequence(s)
    AI220177, BC032691, BX510161
    Consensus CDS
    CCDS54799.1
    UniProtKB/Swiss-Prot
    Q8IWZ6
    Related
    ENSP00000423626.1, OTTHUMP00000219992, ENST00000506636.1, OTTHUMT00000364433
    Conserved Domains (1) summary
    cl24051
    Location:203268
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  2. NM_176824.2NP_789794.1  Bardet-Biedl syndrome 7 protein isoform a

    See identical proteins and their annotated locations for NP_789794.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
    Source sequence(s)
    AC079341, AK308076, BC032691, BX510161, DB139794
    Consensus CDS
    CCDS3724.1
    UniProtKB/Swiss-Prot
    Q8IWZ6
    Related
    ENSP00000264499.4, OTTHUMP00000164091, ENST00000264499.8, OTTHUMT00000256716
    Conserved Domains (1) summary
    cl24051
    Location:203268
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    121824329..121870497 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008357.2XP_016863846.1  Bardet-Biedl syndrome 7 protein isoform X5

  2. XM_017008358.2XP_016863847.1  Bardet-Biedl syndrome 7 protein isoform X6

  3. XM_005263106.4XP_005263163.1  Bardet-Biedl syndrome 7 protein isoform X3

    Conserved Domains (1) summary
    cl24051
    Location:204269
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  4. XM_011532080.3XP_011530382.1  Bardet-Biedl syndrome 7 protein isoform X2

    Conserved Domains (1) summary
    cl24051
    Location:218283
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  5. XM_011532081.3XP_011530383.1  Bardet-Biedl syndrome 7 protein isoform X4

    Conserved Domains (1) summary
    cl24051
    Location:219284
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  6. XM_011532079.3XP_011530381.1  Bardet-Biedl syndrome 7 protein isoform X1

    Conserved Domains (1) summary
    cl24051
    Location:219284
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
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