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Guidelines

MIRAGE

Bardet-Biedl syndrome 2

Summary

Gene Symbol

BBS2

Organism

Homo sapiens (human)

External Links

NCBI Gene

583

KEGG Gene ID

[""]

PubChem

583

Alliance of Genome Resources

HGNC:967

Annotation

Keyword

Bardet-Biedl syndrome
Cell membrane
Cilium
Cilium biogenesis/degradation
Coiled coil
Cytoskeleton
Disease variant
Intellectual disability
Obesity
Protein transport
Proteomics identification
Reference proteome
Retinitis pigmentosa
Vision

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A804HIE1
A0A804HKG1
Q9BXC9	Bardet-Biedl syndrome 2 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 30 in total

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GO Term	Evidence Code	PMID
sperm axoneme assembly	ISS
visual perception	IMP
protein localization	ISS
intracellular protein localization	ISS
gene expression

GO Hierarchy

biological process

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization [inference]

microtubule bundle formation [inference]

axoneme assembly [inference]

sperm axoneme assembly

signal transduction [inference]

cell surface receptor signaling pathway [inference]

cytokine-mediated signaling pathway [inference]

leptin-mediated signaling pathway [inference]

negative regulation of appetite by leptin-mediated signaling pathway

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

vesicle-mediated transport [inference]

Golgi vesicle transport [inference]

post-Golgi vesicle-mediated transport [inference]

Golgi to plasma membrane transport [inference]

Golgi to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

Golgi to plasma membrane transport [inference]

Golgi to plasma membrane protein transport

cellular developmental process [inference]

cell differentiation [inference]

fat cell differentiation

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

Golgi to plasma membrane transport [inference]

Golgi to plasma membrane protein transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization [inference]

microtubule bundle formation [inference]

axoneme assembly [inference]

sperm axoneme assembly

cilium organization [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

axoneme assembly [inference]

sperm axoneme assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

reproductive process [inference]

developmental process involved in reproduction [inference]

sperm axoneme assembly

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction [inference]

smooth muscle contraction [inference]

tonic smooth muscle contraction [inference]

artery smooth muscle contraction

vascular associated smooth muscle contraction [inference]

artery smooth muscle contraction

circulatory system process [inference]

vascular process in circulatory system [inference]

blood vessel diameter maintenance [inference]

vasoconstriction [inference]

vascular associated smooth muscle contraction [inference]

artery smooth muscle contraction

vasodilation

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

behavior [inference]

adult behavior

photoreceptor cell maintenance

developmental process [inference]

developmental process involved in reproduction [inference]

sperm axoneme assembly

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

brain morphogenesis

anatomical structure development [inference]

animal organ development [inference]

cartilage development

cellular developmental process [inference]

cell differentiation [inference]

fat cell differentiation

localization [inference]

macromolecule localization [inference]

intracellular protein localization

protein transport [inference]

Golgi to plasma membrane protein transport

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

establishment of localization [inference]

transport [inference]

protein transport [inference]

Golgi to plasma membrane protein transport

vesicle-mediated transport [inference]

Golgi vesicle transport [inference]

post-Golgi vesicle-mediated transport [inference]

Golgi to plasma membrane transport [inference]

Golgi to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

Golgi to plasma membrane transport [inference]

Golgi to plasma membrane protein transport

pigment granule transport [inference]

melanosome transport

establishment of protein localization [inference]

protein transport [inference]

Golgi to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

establishment of localization in cell [inference]

establishment of vesicle localization [inference]

establishment of pigment granule localization [inference]

establishment of melanosome localization [inference]

melanosome transport

pigment granule transport [inference]

melanosome transport

establishment of organelle localization [inference]

establishment of vesicle localization [inference]

establishment of pigment granule localization [inference]

establishment of melanosome localization [inference]

melanosome transport

pigment granule transport [inference]

melanosome transport

organelle localization [inference]

vesicle localization [inference]

establishment of vesicle localization [inference]

establishment of pigment granule localization [inference]

establishment of melanosome localization [inference]

melanosome transport

pigment granule transport [inference]

melanosome transport

pigment granule localization [inference]

melanosome localization [inference]

melanosome transport

pigment granule transport [inference]

melanosome transport

establishment of organelle localization [inference]

establishment of vesicle localization [inference]

establishment of pigment granule localization [inference]

establishment of melanosome localization [inference]

melanosome transport

pigment granule transport [inference]

melanosome transport

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

Golgi to plasma membrane transport [inference]

Golgi to plasma membrane protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of growth [inference]

negative regulation of growth [inference]

negative regulation of developmental growth [inference]

negative regulation of multicellular organism growth

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

regulation of developmental growth [inference]

regulation of multicellular organism growth [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

negative regulation of developmental growth [inference]

negative regulation of multicellular organism growth

regulation of locomotion [inference]

regulation of cell motility [inference]

regulation of cilium-dependent cell motility [inference]

regulation of cilium movement involved in cell motility [inference]

regulation of cilium beat frequency involved in ciliary motility

positive regulation of biological process [inference]

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

positive regulation of multicellular organismal process [inference]

positive regulation of multicellular organism growth

negative regulation of biological process [inference]

negative regulation of growth [inference]

negative regulation of developmental growth [inference]

negative regulation of multicellular organism growth

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of response to stimulus [inference]

negative regulation of response to nutrient levels [inference]

negative regulation of response to food [inference]

negative regulation of appetite [inference]

negative regulation of appetite by leptin-mediated signaling pathway

negative regulation of developmental process [inference]

negative regulation of developmental growth [inference]

negative regulation of multicellular organism growth

negative regulation of multicellular organismal process [inference]

negative regulation of multicellular organism growth

regulation of response to stimulus [inference]

regulation of response to nutrient levels [inference]

regulation of response to food [inference]

negative regulation of response to food [inference]

negative regulation of appetite [inference]

negative regulation of appetite by leptin-mediated signaling pathway

negative regulation of response to nutrient levels [inference]

negative regulation of response to food [inference]

negative regulation of appetite [inference]

negative regulation of appetite by leptin-mediated signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of response to nutrient levels [inference]

negative regulation of response to food [inference]

negative regulation of appetite [inference]

negative regulation of appetite by leptin-mediated signaling pathway

regulation of developmental process [inference]

regulation of developmental growth [inference]

regulation of multicellular organism growth [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

negative regulation of developmental growth [inference]

negative regulation of multicellular organism growth

negative regulation of developmental process [inference]

negative regulation of developmental growth [inference]

negative regulation of multicellular organism growth

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

cytokine-mediated signaling pathway [inference]

leptin-mediated signaling pathway [inference]

negative regulation of appetite by leptin-mediated signaling pathway

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of microtubule-based process [inference]

regulation of microtubule-based movement [inference]

regulation of cilium movement [inference]

regulation of cilium beat frequency [inference]

regulation of cilium beat frequency involved in ciliary motility

regulation of cilium movement involved in cell motility [inference]

regulation of cilium beat frequency involved in ciliary motility

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cell motility [inference]

regulation of cilium-dependent cell motility [inference]

regulation of cilium movement involved in cell motility [inference]

regulation of cilium beat frequency involved in ciliary motility

regulation of multicellular organismal process [inference]

regulation of multicellular organism growth [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of multicellular organism growth

negative regulation of multicellular organismal process [inference]

negative regulation of multicellular organism growth

regulation of biological quality [inference]

regulation of appetite [inference]

negative regulation of appetite [inference]

negative regulation of appetite by leptin-mediated signaling pathway

regulation of cilium beat frequency involved in ciliary motility

regulation of anatomical structure size [inference]

regulation of tube size [inference]

regulation of tube diameter [inference]

blood vessel diameter maintenance [inference]

vasoconstriction [inference]

vascular associated smooth muscle contraction [inference]

artery smooth muscle contraction

vasodilation

Displaying entries **1 - 5** of 21 in total

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GO Term	Evidence Code	PMID
cytoplasm	IEA
cytosol	TAS
microvillus	IEA
membrane	IBA
membrane	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

BBSome

cellular anatomical structure [inference]

cytoplasm

microtubule organizing center [inference]

ciliary basal body

cytosol

organelle membrane [inference]

bounding membrane of organelle [inference]

ciliary membrane

plasma membrane region [inference]

cell projection membrane [inference]

ciliary membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium [inference]

motile cilium

neuron projection

stereocilium

actin-based cell projection [inference]

organelle [inference]

membrane-bounded organelle [inference]

cilium [inference]

motile cilium

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI
RNA polymerase II-specific DNA-binding transcription factor binding	IPI

GO Hierarchy

molecular function

binding [inference]

protein binding

transcription factor binding [inference]

DNA-binding transcription factor binding [inference]

RNA polymerase II-specific DNA-binding transcription factor binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

bardet-Biedl syndrome 2 protein

Functional Category

J: Translation, ribosomal structure and biogenesis
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 5** entries
InterPro
Bardet-Biedl syndrome 2 protein
Ciliary BBSome complex subunit 2, C-terminal domain
Ciliary BBSome complex subunit 2, N-terminal
Ciliary BBSome complex subunit 2, middle region
WD40-repeat-containing domain superfamily

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0110124	Bardet-Biedl syndrome 2	Alliance of Genome Resources
DOID:0110401	retinitis pigmentosa 74	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	Alliance of Genome Resources
DOID:9970	obesity	Alliance of Genome Resources

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Last updated: April 6, 2026