H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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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;
Select format
Flat file
XML file
Gene structure
H-Inv cluster ID
HIX0013053
Genomic location
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
BBS2
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Cluster member H-Inv ID(s)
HIT000077994
;
HIT000010907
;
HIT000036542
;
HIT000422401
;
HIT000328840
;
Additional cluster member candidate(s)
NA
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome multiple alignment
;
ORF multiple alignment
;
TOP
1-5
LAST
Cluster member (s)
Locus member number
1
H-Inv ID
HIT000077994
Accession number
AF342736.1
CAGE tag ID
NA
EST ID
NA
Coding potential
Protein coding;
Definition
Bardet-Biedl syndrome 2 protein;
Similarity category
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 transcript;
Splicing isoform
Genomic location
Chromosome
16
Location
16q12.2
Position
56518365- 56554195
Strand
-
Gene structure
17 exons
TOP
1-5
LAST
Locus member number
2
H-Inv ID
HIT000010907
Accession number
AK027635.1
CAGE tag ID
NA
EST ID
NA
Coding potential
Protein coding;
Definition
Bardet-Biedl syndrome 2 protein;
Similarity category
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
Chromosome
16
Location
16q12.2
Position
56518300- 56553936
Strand
-
Gene structure
17 exons
TOP
1-5
LAST
Locus member number
3
H-Inv ID
HIT000036542
Accession number
BC014140.2
CAGE tag ID
NA
EST ID
NA
Coding potential
Protein coding;
Definition
Bardet-Biedl syndrome 2 protein;
Similarity category
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
Chromosome
16
Location
16q12.2
Position
56518518- 56553898
Strand
-
Gene structure
17 exons
TOP
1-5
LAST
Locus member number
4
H-Inv ID
HIT000422401
Accession number
AK289604.1
CAGE tag ID
NA
EST ID
NA
Coding potential
Protein coding;
Definition
Bardet-Biedl syndrome 2 protein;
Similarity category
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
Chromosome
16
Location
16q12.2
Position
56518530- 56553898
Strand
-
Gene structure
17 exons
TOP
1-5
LAST
Locus member number
5
H-Inv ID
HIT000328840
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
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 isoform
Genomic location
Chromosome
16
Location
16q12.2
Position
56518300- 56553999
Strand
-
Gene structure
12 exons
Alternative splicing (AS) information
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)
HIT000077994
;
HIT000328840
;
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome multiple alignment
;
ORF multiple alignment
;
Gene function information
H-Inv cluster ID
HIX0013053
Representative H-Inv ID
HIT000077994
Accession number
AF342736.1
CAGE tag ID
NA
EST ID
NA
Coding potential
Protein coding;
Definition
Bardet-Biedl syndrome 2 protein;
Similarity category
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
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)
H-Inv protein ID
HIP000073936
No. of interaction
17
Interaction partner(s)
HIP000014754
;
HIP000021821
;
HIP000028744
;
HIP000033272
;
HIP000037399
;
HIP000037399
;
HIP000040044
;
HIP000044061
;
HIP000045765
;
HIP000052853
;
HIP000053276
;
HIP000081009
;
HIP000097512
;
HIP000112860
;
HIP000135787
;
HIP000197144
;
HIP000205335
;
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
BBS2
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Related H-InvDB links
G-integra
;
PPI view
;
H-DBAS
;
Gene family;
Similarity search tool
;
TACT
;
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
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-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
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)
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 Viewer
;
LEGENDA
;