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The Protein Pages

Bardet-Biedl Syndrome 2 Gene (BBS2)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 14.03.03

Description

BBS2 is a protein of unknown function. It shows homology to BBS2L1 and BBS2L2 in a coiled coil domain.(1)

GENE DATA

Exons: 17

Markers / RFLPs:

Transcripts: mRNA: ~3 kb

Regulatory elements:

Primers:

Chromosomes with BBS2 locus
Assignment: 16q13 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

Bardet-Biedl Syndrome

PROTEIN DATA
Subunits: 1 Amino acids: 721
Modifications:


Mr/ Weight:


Cofactors:


Motifs:

Coiled-coil domain

PROTEIN DATA

Click on entry to see database record online
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Locus Species EC-No. Swissprot TrEMBL Prosite
BBS2 Danio rerio
Q98SP7

BBS2 Homo sapiens
Q9BXC9

BBS2 Mus musculus
Q9CWF6 Q8C1M6

GENE DATA

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Locus Species Genbank Unigene OMIM
BBS2 Danio rerio AF342739

BBS2 Homo sapiens AF342736 AF342737 AF342738 AF342739 NM_031885 Hs.332633 606151
BBS2 Mus musculus AF342737 NM_026116 Mm.28005
BBS2 Rattus norvegicus AF342738 NM_053618 Rn.15987

GENE LOCUS DATA

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Locus Species Genome Database Mouse Genome Database Locus Link
BBS2 Homo sapiens bbs2
583
BBS2 Mus musculus
64485

References:
  1. Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
    Link to PubMed
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  2. Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Maldergem,L.V., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E., Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M., Gorman,S.W., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G., Jacobson,S.G., Stone,E.M., and Sheffield,V.C. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 2001; Hum.Mol.Genet. 10: 865-874.
    Link to PubMed
    Goto Top
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Contact the editor 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz