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

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; 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: mouse all
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Genomic context

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_000016.10 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 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?

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.
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.
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.
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.
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 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.
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.
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.
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.
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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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 2 MedGen: C2936863 OMIM: 615981 GeneReviews: Bardet-Biedl Syndrome Overview	Compare labs
Retinitis pigmentosa 74 MedGen: C4225281 OMIM: 616562 GeneReviews: Not available	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

A004I06 (e-PCR)
- UniSTS:10767

D10S275 (e-PCR)
- UniSTS:147992

STS-N93740 (e-PCR)
- UniSTS:539

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

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

NG_009312.2 RefSeqGene

Range

5001..40640

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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