H-InvDB x AHG DB
Locus view
H-InvDB_9.0 released on May 27, 2015.
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H-Inv cluster ID: HIX0013053 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Bardet-Biedl syndrome 2 protein;
 
 

Gene structure  G-integra H-DBAS
H-Inv cluster ID HIX0013053
Genomic location  G-integra Help Chromosome 16
Location 16q12.2
Position 56518257- 56554195
Strand -
Antisense cluster ID(s) NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:583
KEGG GENES KEGG GENES(583)
GeneCard GeneCardBBS2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Cluster member H-Inv ID(s) HIT000077994HIT000010907HIT000036542HIT000422401HIT000328840
Additional cluster member candidate(s) NA
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA multiple alignmentcDNA-genome multiple alignment ORF multiple alignmentORF multiple alignment
Mini-G Locus map Locus map

 
TOP 1-5 LAST 
Cluster member (s)  G-integra H-DBAS
Locus member number 1
H-Inv ID Transcript viewHIT000077994
Accession number AF342736.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Bardet-Biedl syndrome 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9BXC9)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol BBS2 
HGNC aliases NA
HGNC name Bardet-Biedl syndrome 2 
Transcript feature Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 16
Location 16q12.2
Position 56518365- 56554195
Strand -
Gene structure 17 exons
 
TOP 1-5 LAST 
Locus member number 2
H-Inv ID Transcript viewHIT000010907
Accession number AK027635.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Bardet-Biedl syndrome 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9BXC9)  [Identity/coverage = 99.307%/100.0%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol BBS2 
HGNC aliases NA
HGNC name Bardet-Biedl syndrome 2 
Transcript feature NA
Genomic location  G-integra Chromosome 16
Location 16q12.2
Position 56518300- 56553936
Strand -
Gene structure 17 exons
 
TOP 1-5 LAST 
Locus member number 3
H-Inv ID Transcript viewHIT000036542
Accession number BC014140.2
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Bardet-Biedl syndrome 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9BXC9)  [Identity/coverage = 99.723%/100.0%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol BBS2 
HGNC aliases NA
HGNC name Bardet-Biedl syndrome 2 
Transcript feature NA
Genomic location  G-integra Chromosome 16
Location 16q12.2
Position 56518518- 56553898
Strand -
Gene structure 17 exons
 
TOP 1-5 LAST 
Locus member number 4
H-Inv ID Transcript viewHIT000422401
Accession number AK289604.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Bardet-Biedl syndrome 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9BXC9)  [Identity/coverage = 99.861%/100.0%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol BBS2 
HGNC aliases NA
HGNC name Bardet-Biedl syndrome 2 
Transcript feature NA
Genomic location  G-integra Chromosome 16
Location 16q12.2
Position 56518530- 56553898
Strand -
Gene structure 17 exons
 
TOP 1-5 LAST 
Locus member number 5
H-Inv ID Transcript viewHIT000328840
Accession number AB208905.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Similar to Bardet-Biedl syndrome 2 protein homolog;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (Q99MH9)  [Identity/coverage = 82.569%/15.12%] to Rattus norvegicus (Rat). protein.
Gene symbol/name HGNC symbol BBS2 
HGNC aliases NA
HGNC name Bardet-Biedl syndrome 2 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 16
Location 16q12.2
Position 56518300- 56553999
Strand -
Gene structure 12 exons

Alternative splicing (AS) information  G-integra H-DBAS
Pattern of alternative splicing isoforms 5' terminal AS;  Internal AS; 
Position of alternative splicing isoforms Internal acceptor site;  Internal donor site; 
Alternative splicing isoform H-Inv ID(s) Splicing isoformHIT000077994Splicing isoformHIT000328840
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA multiple alignmentcDNA-genome multiple alignment ORF multiple alignmentORF multiple alignment

Gene function information  G-integra PPI viewer H-DBAS Gene family Similarity Search Tool TACT
H-Inv cluster ID HIX0013053
Representative H-Inv ID Representative H-Inv IDHIT000077994
Accession number AF342736.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Bardet-Biedl syndrome 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9BXC9)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol BBS2 
HGNC aliases NA
HGNC name Bardet-Biedl syndrome 2 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000073936
No. of interaction 17
Interaction partner(s) HIP000014754HIP000021821HIP000028744HIP000033272HIP000037399HIP000037399HIP000040044HIP000044061HIP000045765HIP000052853HIP000053276HIP000081009HIP000097512HIP000112860HIP000135787HIP000197144HIP000205335
BIND NA
DIP NA
MINT MINT-67253; 
HPRD 00092;  00559;  01020;  01972;  02624;  04200;  05500;  06049;  06105;  06787;  08982; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:583
KEGG GENES KEGG GENES(583)
GeneCard GeneCardBBS2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Related H-InvDB links G-integraG-integra PPI viewerPPI view H-DBASH-DBAS Gene familyGene family;  Similarity Search ToolSimilarity search tool TACTTACT
Gene expression information   H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsB050919; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 223227_at; 
HG-U133A NA
HG-U133A_2 NA
HG-U133B 223227_at; 
HG-U133_Plus_2 223227_at; 
HG-U95 50398_at;  57602_at;  70203_at;  72933_r_at; 
HG-U95A NA
HG-U95B 50398_at; 
HG-U95C 57602_at; 
HG-U95D NA
HG-U95E 70203_at;  72933_r_at; 
HG-U95Av2 NA
HuEx-1_0 3662073;  3662077;  3692935;  3692936;  3692937;  3692939;  3692944;  3692946;  3692947;  3692950;  3692952;  3692954;  3692958;  3692960;  3692961;  3692962;  3692963;  3692965;  3692966;  3692967;  3692970;  3692971;  3692973;  3692974; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P106835; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P106835; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Bardet-Biedl syndrome 2 (209900); 
Related information in OMIM OMIM ID:  606151;  Title: BBS2 GENE
Co-localized orphan diseases NA
Disease related mutation MutationView:  606151
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Co-occurred words and phrases with this gene name in PubMed (LEGENDA) LEGENDA Gene name Entrez Gene ID:(583); 
Disease Entrez Gene ID:(583); 
Gene function Entrez Gene ID:(583); 
Substance Entrez Gene ID:(583); 
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA