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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BBS2, Bardet-Biedl syndrome 2
Sequence ID:NM_031885
RefSeqGene ID:NG_009312
Entrez Gene ID:583
Ensembl ID:ENSG00000125124

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, colon, ear, embryonic tissue, endocrine, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, peripheral nervous system, pineal gland, pituitary gland, placenta, pooled tissue, prostate, retina, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS1
BBS10
BBS12
BBS4
BBS5
BBS7
BBS9
CCDC28B
CEP290
MKKS
MKS1
TMEM67
TRIM32
TTC8
WDPCP

Cytogenetic Location (from UniGene)

Cytogenetic Location:16q21Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:16: 56518299 - 56553999

 Exon Info From UCSC:
NM_031885

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4653315Full LengthBC014140Bardet-Biedl syndrome 2

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_114091  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_031885 NP_114091 Q9BXC9 FG-GAP

Related Sequences

 
mRNAGenPeptSwissProt
BC014140 AAH14140 Q9BXC9
AF342736 AAK28552 Q9BXC9
DQ892680 ABM83606  
DQ895923 ABM86849  
AK027635 BAB55252 Q9BXC9
AB208905 BAD92142 Q59H54
AK289604 BAF82293 A8K0N9
AL834176 CAD38873 Q8ND60

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BBS2 NP_114091 R.norvegicus Bbs2 113948   NP_446070 90
M.musculus Bbs2 67378 Gene Info NP_080392 90
A.gambiae AgaP_AGAP009637 1279013   XP_318670 37
C.elegans bbs-2 259580   NP_501325 35

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)