B9D2 Gene
protein-coding GIFtS: 52
GCID: GC19M041860
|
|
B9 protein domain 2
| |
Aliases
for B9D2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| B9 Protein Domain 21 2 | | ICIS-12 | | MKSR22 3 | | MKS102 | | MKS1-Related Protein 22 3 | | B9 Domain-Containing Protein 22 | | MGC40931 | | Involved In CIlia Stability-12 |
Export aliases for B9D2 gene to outside databasesPrevious GC identifers: GC19M046553 GC19M038292 |
Summaries
for B9D2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for B9D2:
This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulatedduring mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expressionof this gene results in ciliogenesis defects. (provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia andacting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes
|
Genomic Views
for B9D2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the B9D2 gene promoter:
NF-1 NF-1/L AML1a RelA Nkx2-5 Arnt PPAR-gamma1 PPAR-gamma2 Pax-4a ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for B9D2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B9D2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.2B9D2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M041860: view genomic region
(about GC identifiers)
Start:
|
41,860,322 bp from pter |
End:
|
41,870,078 bp from pter |
Size:
|
9,757 bases |
Orientation:
|
minus strand |
|
Proteins
for B9D2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9 (See
protein sequence)Recommended Name: B9 domain-containing protein 2 Size: 175 amino acids; 19261 Da
Subunit: Part of the tectonic-like complex (also named B9 complex). Interacts with TUBG1 (By similarity)
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Nucleus (Bysimilarity)Explore the universe of human proteins at neXtProt for B9D2: NX_Q9BPU9
B9D2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_085055.2
ENSEMBL proteins: ENSP00000243578 Reactome Protein details: Q9BPU9
Human Recombinant Protein Products for B9D2:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
B9D2 for ontologies About GeneDecksing
B9D2 Antibody Products:
Assay Products for B9D2: |
Protein
Domains /
Families
for B9D2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
B9D2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BPU9ProtoNet protein and cluster: Q9BPU9 UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9Similarity: Belongs to the B9D familySimilarity: Contains 1 B9 domain |
Function
for B9D2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: B9D2_HUMAN, Q9BPU9Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia andacting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- | | GO:0043015 | gamma-tubulin binding |
ISS | -- |
B9D2 for ontologies About GeneDecksing
Phenotypes:
8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for B9d2):
B9D2 for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B9D2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B9D2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: B9D2 (NM_030578) | |  | Sino Biological Human cDNA Clone for B9D2 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for B9D2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B9D2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B9D2 |
|
Pathways & Interactions
for B9D2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | M Phase | | | 2 | Resolution of Sister Chromatid Cohesion | | | 3 | Cell Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/10 
Reactome Pathways for B9D2 (see all 10)
B9D2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B9D2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/81 Interacting proteins for B9D2 (Q9BPU92, 3 ENSP000002435784) via UniProtKB, MINT, STRING, and/or I2D (see all 81)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
B9D2 for ontologies About GeneDecksing
|
Drugs & Compounds
for B9D2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for B9D2
Search CenterWatch for drugs/clinical trials and news about B9D2
|
Transcripts
for B9D2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for B9D2 gene: NM_030578.3 Unigene Cluster for B9D2: B9 protein domain 2 Hs.567596 [show with all ESTs]Unigene Representative Sequence: BQ9005871 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000243578(uc002oqj.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B9D2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B9D2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: B9D2 (NM_030578) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for B9D2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B9D2 |
Additional cDNA sequence: BC004157.2 BC004444.1 5 DOTS entries: DT.308499 DT.446142 DT.101976621 DT.95268300 DT.99999889 24/57 AceView cDNA sequences (see all 57): BQ427546 CB529481 AI972225 BI820173 BQ575046 AW247300 CA945159 BQ052502 BM833644 BM666419 BE794701 BU609059 AA452448 CF126641 BM923726 BQ647466 CB128896 BM020284 BM713204 BC004444 BM971457 BI833871 CB241683 BQ009155
GeneLoc Exon Structure
|
Expression
for B9D2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| B9D2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGGTGCTC
About this image
See B9D2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for B9D2
SOURCE GeneReport for Unigene cluster: Hs.567596
SABiosciences Custom PCR Arrays for B9D2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B9D2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat B9D2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B9D2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B9D2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B9D2 |
Orthologs
for B9D2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for B9D2 gene from 6/21 species (see all 21) About this table
ENSEMBL Gene Tree for B9D2 (if available)
TreeFam Gene Tree for B9D2 (if available) |
Paralogs
for B9D2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for B9D2 gene
- B9D12
1 SIMAP similar gene for B9D2 using alignment to 2 protein entries: B9D2_HUMAN (see all proteins):B9D1
B9D2 for paralogs About GeneDecksing
|
Genomic Variants
for B9D2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for B9D2 (41860322 - 41870078 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for B9D2
1 Indel: 26284
Human Gene Mutation Database (HGMD): B9D2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing B9D2 |
|
Disorders
/ Diseases
for B9D2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
B9D2 for disorders About GeneDecksing
OMIM gene information: 611951
OMIM disorders: --
UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9
Defects in B9D2 are the cause of Meckel syndrome type 10 (MKS10) [MIM:614175]. MKS10 is a disordercharacterized by a combination of renal cysts and variably associated features including developmental anomalies ofthe central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly
7  diseases for B9D2: About MalaCardsencephaloceles encephalocele meckel syndrome cystic kidney
polydactyly hepatitis neuronitis
3 diseases from the University of Copenhagen DISEASES database for B9D2:Nephronophthisis Cystic kidney Polydactyly Human Genome Epidemiology (HuGE) Navigator: B9D2 (5 documents)
Export disorders for B9D2 gene to outside databases
|
Publications
for B9D2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for B9D2 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with B9D2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PubMed id 19208769)1, 2 Bialas N.J.... Leroux M.R. (2009)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Disruption of a ciliary B9 protein complex causes Meckel syndrome. (PubMed id 21763481)2 Dowdle W.E....Reiter J.F. (2011)
- Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1 Guey L.T....Malats N. (2010)
- Inflammation gene variants and susceptibility to albu minuria in the U.S. population: analysis in the Third National Health and Nutri tion Examination Survey (NHANES III), 1991-1994. (PubMed id 21054877)1 Ned R.M....Dowling N.F. (2010)
- Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. (PubMed id 18936436)1 Chang M.H....Khoury M.J. (2009)
- The stumpy gene is required for mammalian ciliogenesi s. (PubMed id 18287022)1 Town T....Flavell R.A. (2008)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Identification of ICIS-1, a new protein involved in cilia stability. (PubMed id 17127412)1 Ponsard C....Tournier F. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for B9D2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing B9D2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing B9D2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing B9D2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for B9D2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for B9D2 gene:
Search GeneIP for patents involving B9D2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for B9D2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for B9D2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B9D2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B9D2 | | | OriGene Protein Over-expression Lysate for B9D2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for B9D2 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B9D2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B9D2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for B9D2 | | OriGene Custom Protein Services for B9D2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat B9D2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing B9D2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B9D2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B9D2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B9D2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B9D2 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for B9D2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | B9D2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B9D2 |
|  |  |  |  | | | | ThermoFisher Antibodies for B9D2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B9D2 |
| |  | |
|
|
|
