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BBS4 Bardet-Biedl syndrome 4 [ Homo sapiens (human) ]

Gene ID: 585, updated on 7-Apr-2025

Summary

Official Symbol
BBS4provided by HGNC
Official Full Name
Bardet-Biedl syndrome 4provided by HGNC
Primary source
HGNC:HGNC:969
See related
Ensembl:ENSG00000140463 MIM:600374; AllianceGenome:HGNC:969
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
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. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in testis (RPKM 12.7), prostate (RPKM 9.9) and 25 other tissues See more
Orthologs
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Genomic context

See BBS4 in Genome Data Viewer
Location:
15q24.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72686207..72738473)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70503538..70555769)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72978548..73030814)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72963099-72964076 Neighboring gene RNA, 7SL, cytoplasmic 853, pseudogene Neighboring gene HIG1 hypoxia inducible domain family member 2B Neighboring gene MPRA-validated peak2381 silencer Neighboring gene ADP dependent glucokinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9730 Neighboring gene ADPGK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:73099527-73100423 Neighboring gene NANOG hESC enhancer GRCh37_chr15:73113063-73113588 Neighboring gene uncharacterized LOC107984801 Neighboring gene NANOG hESC enhancer GRCh37_chr15:73127371-73127872

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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 alpha-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables dynactin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within adult behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in adult behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within brain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebral cortex 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
 
acts_upstream_of cilium assembly IEA
Inferred from Electronic Annotation
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 
acts_upstream_of_or_within dendrite development IEA
Inferred from Electronic Annotation
more info
 
involved_in dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within erythrocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within face development IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within fat pad development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in hippocampus development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within leptin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within leukocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lymphocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of protein location in nucleus IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in microtubule anchoring at centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myeloid cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of appetite by leptin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of appetite by leptin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within neuron migration IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in non-motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of cilium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to organelle ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within protein localization to photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium beat frequency involved in ciliary motility IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium beat frequency involved in ciliary motility ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to leptin IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within retina homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in retina homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within retinal rod cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in retinal rod cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within sensory perception of smell IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory processing TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within social behavior IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within sperm flagellum assembly IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within spermatid development IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within striatum development IEA
Inferred from Electronic Annotation
more info
 
involved_in striatum development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within ventricular system development 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 IDA
Inferred from Direct Assay
more info
PubMed 
part_of BBSome IEA
Inferred from Electronic Annotation
more info
 
part_of BBSome IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriolar satellite IEA
Inferred from Electronic Annotation
more info
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome 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 ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
 
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in pericentriolar material IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
BBSome complex member BBS4; Bardet-Biedl syndrome 4 protein
Names
bardet-Biedl syndrome 4 protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_009416.3 RefSeqGene

    Range
    5002..57268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001252678.2NP_001239607.1  BBSome complex member BBS4 isoform 2

    See identical proteins and their annotated locations for NP_001239607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC009712
    Consensus CDS
    CCDS58377.1
    UniProtKB/TrEMBL
    A0A0S2Z328
    Related
    ENSP00000456759.2, ENST00000566400.6
    Conserved Domains (2) summary
    sd00006
    Location:98126
    TPR; TPR repeat [structural motif]
    cl26002
    Location:1221
    TPR_11; TPR repeat
  2. NM_001320665.2NP_001307594.1  BBSome complex member BBS4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC009712
    UniProtKB/TrEMBL
    B2RB60
    Related
    ENSP00000456758.2, ENST00000569338.6
    Conserved Domains (3) summary
    smart00028
    Location:170201
    TPR; Tetratricopeptide repeats
    COG0457
    Location:46321
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:101129
    TPR; TPR repeat [structural motif]
  3. NM_033028.5NP_149017.2  BBSome complex member BBS4 isoform 1

    See identical proteins and their annotated locations for NP_149017.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC009712
    Consensus CDS
    CCDS10246.1
    UniProtKB/Swiss-Prot
    B4E178, Q53DZ5, Q8NHU9, Q96H45, Q96RK4
    UniProtKB/TrEMBL
    A0A0S2Z3A9, B2RB60
    Related
    ENSP00000268057.4, ENST00000268057.9
    Conserved Domains (2) summary
    sd00006
    Location:101129
    TPR; TPR repeat [structural motif]
    cl26002
    Location:18400
    TPR_11; TPR repeat

RNA

  1. NR_045565.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009712
    Related
    ENST00000718297.1
  2. NR_045566.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009712
    Related
    ENST00000566829.2

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    72686207..72738473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432911.1XP_047288867.1  Bardet-Biedl syndrome 4 protein isoform X1

    UniProtKB/TrEMBL
    B7Z7L8
  2. XM_017022450.2XP_016877939.1  Bardet-Biedl syndrome 4 protein isoform X2

    UniProtKB/TrEMBL
    B7Z7L8
  3. XM_047432912.1XP_047288868.1  Bardet-Biedl syndrome 4 protein isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z328
    Related
    ENSP00000378631.3, ENST00000395205.7
  4. XM_017022454.2XP_016877943.1  Bardet-Biedl syndrome 4 protein isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z328
    Conserved Domains (2) summary
    sd00006
    Location:98126
    TPR; TPR repeat [structural motif]
    cl26002
    Location:1221
    TPR_11; TPR repeat
  5. XM_047432913.1XP_047288869.1  Bardet-Biedl syndrome 4 protein isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z328
    Related
    ENSP00000520733.1, ENST00000718298.1
  6. XM_047432914.1XP_047288870.1  Bardet-Biedl syndrome 4 protein isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z328

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    70503538..70555769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378548.1XP_054234523.1  Bardet-Biedl syndrome 4 protein isoform X1

    UniProtKB/TrEMBL
    B4DQR5, B7Z7L8
  2. XM_054378549.1XP_054234524.1  Bardet-Biedl syndrome 4 protein isoform X2

    UniProtKB/TrEMBL
    B7Z7L8
  3. XM_054378550.1XP_054234525.1  Bardet-Biedl syndrome 4 protein isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z328
  4. XM_054378552.1XP_054234527.1  Bardet-Biedl syndrome 4 protein isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z328
  5. XM_054378551.1XP_054234526.1  Bardet-Biedl syndrome 4 protein isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z328
  6. XM_054378553.1XP_054234528.1  Bardet-Biedl syndrome 4 protein isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z328