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Bardet-Biedl syndrome 2

Summary

Gene Symbol

BBS2

Organism

Homo sapiens (human)

External Links

NCBI Gene

583

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
Reference proteome
Retinitis pigmentosa
Vision

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9BXC9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 24 in total

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GO Term	Evidence Code	PMID
protein localization to organelle	ISS
positive regulation of multicellular organism growth	IEA
vasodilation	IEA
fat cell differentiation	ISS
Golgi to plasma membrane protein transport	IMP	19150989

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

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

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 process involved in reproduction in multicellular organism [inference]

sperm axoneme assembly

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

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]

establishment of 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 macromolecule localization [inference]

protein localization

protein localization to organelle

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

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of 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

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [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

cellular process involved in reproduction in multicellular organism [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]

cellular macromolecule localization [inference]

protein localization

protein localization to organelle

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

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of 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

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

establishment of localization [inference]

transport [inference]

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

organic substance transport [inference]

protein transport [inference]

Golgi to plasma membrane protein transport

nitrogen compound transport [inference]

protein transport [inference]

Golgi to plasma membrane protein 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]

establishment of 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 macromolecule localization [inference]

protein localization

protein localization to organelle

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

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of 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

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

Golgi to plasma membrane protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic 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 cellular biosynthetic process [inference]

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 cellular 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 cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic 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 cellular biosynthetic 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 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 metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular 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 cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

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 cellular metabolic process [inference]

negative regulation of cellular biosynthetic 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 external stimulus [inference]

negative regulation of response to extracellular 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 external stimulus [inference]

negative regulation of response to external stimulus [inference]

negative regulation of response to extracellular 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 response to extracellular stimulus [inference]

negative regulation of response to extracellular 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 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 external stimulus [inference]

negative regulation of response to extracellular 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 cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic 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 cellular biosynthetic 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 cellular metabolic process [inference]

negative regulation of cellular biosynthetic 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 10 in total

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GO Term	Evidence Code	PMID
centriolar satellite	IEA
stereocilium	IEA
motile cilium	IBA IDA	18299575
neuron projection	IBA
ciliary membrane	IDA	19081074

GO Hierarchy

cellular component

protein-containing complex [inference]

BBSome

cellular anatomical entity [inference]

microtubule organizing center [inference]

ciliary basal body

cytosol

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

ciliary membrane

plasma membrane region [inference]

cell projection membrane [inference]

ciliary membrane

centriolar satellite

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	16189514 16327777 17574030 18000879 18762586 20080638 22139371 22500027 25416956 25552655 27173435 28514442 29039417 32296183 33144677 33961781
RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990

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.

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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UniCarb-DR

LM-GlycoRepo

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Acknowledgements