Seroatlas · Human Serome Atlas

BBS2

BBSome complex member BBS2

Also known as: BBS, BBS2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BXC9
Gene: BBS2
Ensembl: ENSG00000125124
Chromosome: 16
Canonical length: 721 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles,Primary cilium transition zone

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

721 residues, UniProt reviewed canonical sequence.

>Q9BXC9|BBS2
     1  MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQTGKV FIHNPHTRNQ HVSASRVFQS
    61  PLESDVSLLS INQAVSCLTA GVLNPELGYD ALLVGTQTNL LAYDVYNNSD LFYREVADGA
   121  NAIVLGTLGD ISSPLAIIGG NCALQGFNHE GSDLFWTVTG DNVNSLALCD FDGDGKKELL
   181  VGSEDFDIRV FKEDEIVAEM TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTSRYWRIKS
   241  KNHAMSIHAF DLNSDGVNEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAIA GVVEGDYRMD
   301  GHIQLICCSV DGEIRGYLPG TAEMRGNLMD TSAEQDLIRE LSQKKQNLLL ELRNYEENAK
   361  AELASPLNEA DGHRGIIPAN TRLHTTLSVS LGNETQTAHT ELRISTSNDT IIRAVLIFAE
   421  GIFTGESHVV HPSIHNLSSS ICIPIVPPKD VPVDLHLKAF VGYRSSTQFH VFESTRQLPR
   481  FSMYALTSLD PASEPISYVN FTIAERAQRV VVWLGQNFLL PEDTHIQNAP FQVCFTSLRN
   541  GGHLHIKIKL SGEITINTDD IDLAGDIIQS MASFFAIEDL QVEADFPVYF EELRKVLVKV
   601  DEYHSVHQKL SADMADHSNL IRSLLVGAED ARLMRDMKTM KSRYMELYDL NRDLLNGYKI
   661  RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVITACRD AIRSNNINTL FKIMRVGTAS
   721  S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 43 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 43 nTPM
tongue: 27 nTPM
basal ganglia: 26 nTPM
cerebral cortex: 24 nTPM
heart muscle: 21 nTPM
skeletal muscle: 20 nTPM

Single-cell type

bergmann glia: 289 nCPM
epicardial cells: 287 nCPM
astrocytes: 222 nCPM
oligodendrocytes: 140 nCPM
oligodendrocyte progenitor cells: 138 nCPM
ependymal cells: 110 nCPM

Immune cell

naive CD4 T-cell: 19 nTPM
non-classical monocyte: 18 nTPM
naive CD8 T-cell: 17 nTPM
memory CD8 T-cell: 16 nTPM
eosinophil: 14 nTPM
memory CD4 T-cell: 14 nTPM

Brain region

white matter: 29 nTPM
basal ganglia: 26 nTPM
cerebellum: 23 nTPM
medulla oblongata: 23 nTPM
pons: 21 nTPM
thalamus: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS2.

Disease | AllUniProt

Conditions BBS2 is implicated in, by any mechanism.

Bardet-Biedl syndrome 2 (BBS2) MIM:615981
Retinitis pigmentosa 74 (RP74) MIM:616562

Disease | GeneticClinVar

269 pathogenic / likely-pathogenic of 1,314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Retinal dystrophy
BBS2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.07
gnomAD pLI: 0
gnomAD missense Z: 0.87
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA polymerase II-specific DNA-binding transcription factor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
Bardet-Biedl syndrome 2 protein
BBS2, GAE domain
Ciliary BBSome complex subunit 2, middle region
Ciliary BBSome complex subunit 2, N-terminal
BBS2, platform domain
BBS2, hairpin domain
BBS2, C-terminal helix bundle domain
Ciliary BBSome complex subunit 2, N-terminal
BBS2 GAE domain
Ciliary BBSome complex subunit 2, middle region
BBS2 platform domain
BBS2 C-terminal helix bundle
BBS2 hairpin

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BBS2 as an antibody target. Whether an autoantibody or antibody against BBS2 could matter depends on whether native BBS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BBS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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