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FLASH GENE

Symbol

BBS2

contributors: mct/npt/pgu - updated : 02-12-2015

HGNC name	Bardet-Biedl syndrome 2
HGNC id	967

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BBS2 Bardet-Biedl syndrome 2 RP74 retinitis pigmentosa 74
Location	16q13      Physical location : 56.518.258 - 56.554.008
Synonym symbol(s)	BBS, MGC20703

DNA

TYPE	functioning gene
STRUCTURE	49.71 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031885 17 - 2814 NP_114091 79 721 - 2008 18299575

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland           thyroid         Nervous brain diencephalon amygdala       spinal cord         Respiratory respiratory tract         Urinary kidney         Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminal coiled-coil domain

HOMOLOGY

interspecies

ortholog to murine Bbs2

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	olfactory and retinal cilia
	located in the neighborhood of primary cilia, including the basal body, the ciliary axoneme, and the pericentriolar region

basic FUNCTION	involved in planar cell polarity
	required for the localization of G protein-coupled receptors to primary cilia on central neurons
	involved playing a role in retrograde intracellular trafficking of membrane-bound vesicles and organelles
	playing a role in both the structure and function of motile cilia
	mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
	is required for BBSome formation, and BBS7 and BBS2 depend on each other for protein stability
	play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium
	part of a BBS7-BBS2-BBS9 assembly intermediate referred to as the BBSome core complex because it forms the core of the BBSome

INTERACTION

DNA

RNA

small molecule

protein	interacting with VANGL2
	interacting with EPAS1, ALDOB, EXOC7, FLOT1, KRT18, PAX2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BBS2 , RP74

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS