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

Summary

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; AllianceGenome:HGNC:18758
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: mouse all
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Genomic context

Location:: 4q27

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (121824329..121870474, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (125128381..125174522, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (122745484..122791629, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Title: Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
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.
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Title: A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Sequence variants in BBS7 were identified in families with CRB2-related syndrome.
Title: Expansion of phenotype and genotypic data in CRB2-related syndrome.
BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary.
Title: Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Observational study of gene-disease association. (HuGE Navigator)
Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bardet-Biedl syndrome 7 MedGen: C1859565 OMIM: 615984 GeneReviews: Bardet-Biedl Syndrome Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-3537 (e-PCR)
- UniSTS:33824

STS-N20583 (e-PCR)
- UniSTS:76380

SHGC-50595 (e-PCR)
- UniSTS:77245

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
involved_in brain development	IEA Inferred from Electronic Annotation 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 determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in digestive tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in eye development	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in limb development	IEA Inferred from Electronic Annotation more info
involved_in melanosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in pigment granule aggregation in cell center	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IPI Inferred from Physical Interaction more info	PubMed
involved_in primary palate development	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IPI Inferred from Physical Interaction more info	PubMed
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

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	IPI Inferred from Physical Interaction more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Bardet-Biedl syndrome 7 protein

Names: BBS2-like 1

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

NG_009111.1 RefSeqGene

Range

5014..51159

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018190.4 → NP_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, ENST00000506636.1

Conserved Domains (1) summary

cl24051
Location:203 → 268

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
NM_176824.3 → NP_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

Q4W5P8, Q8IWZ6, Q8N581, Q9NVI4

Related

ENSP00000264499.4, ENST00000264499.9

Conserved Domains (1) summary

cl24051
Location:203 → 268

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

121824329..121870474 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008357.3 → XP_016863846.1 Bardet-Biedl syndrome 7 protein isoform X7
XM_047415890.1 → XP_047271846.1 Bardet-Biedl syndrome 7 protein isoform X6
XM_005263106.5 → XP_005263163.1 Bardet-Biedl syndrome 7 protein isoform X3

Conserved Domains (1) summary

cl24051
Location:204 → 269

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_047415889.1 → XP_047271845.1 Bardet-Biedl syndrome 7 protein isoform X5
XM_011532080.4 → XP_011530382.1 Bardet-Biedl syndrome 7 protein isoform X2

Conserved Domains (1) summary

cl24051
Location:218 → 283

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_011532081.4 → XP_011530383.1 Bardet-Biedl syndrome 7 protein isoform X4

Conserved Domains (1) summary

cl24051
Location:219 → 284

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_011532079.4 → XP_011530381.1 Bardet-Biedl syndrome 7 protein isoform X1

Conserved Domains (1) summary

cl24051
Location:219 → 284

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region