Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



B9D2 Gene

protein-coding   GIFtS: 52
GCID: GC19M041860

B9 Protein Domain 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
B9 Protein Domain 21 2     ICIS-12
MKSR22 3     B9 Domain-Containing Protein 22
MKS1-Related Protein 22 3     Involved In CIlia Stability-12
MKS102 5     

External Ids:    HGNC: 286361   Entrez Gene: 807762   Ensembl: ENSG000001238107   OMIM: 6119515   UniProtKB: Q9BPU93   

Export aliases for B9D2 gene to outside databases

Previous GC identifers: GC19M046553 GC19M038292


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for B9D2 Gene:
This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated
during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting
expression of this gene results in ciliogenesis defects. (provided by RefSeq, Oct 2009)

GeneCards Summary for B9D2 Gene:
B9D2 (B9 protein domain 2) is a protein-coding gene. Diseases associated with B9D2 include meckel syndrome 10, and b9d2-related meckel syndrome. GO annotations related to this gene include gamma-tubulin binding. An important paralog of this gene is B9D1.

UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9
Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and
acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidB9D2 promoter sequence
   Search Chromatin IP Primers for B9D2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 19q13.2

B9D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B9D2 gene location

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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)

Explore the universe of human proteins at neXtProt for B9D2: NX_Q9BPU9

Explore proteomics data for B9D2 at MOPED


See B9D2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_085055.2  
ENSEMBL proteins: 
 ENSP00000243578   ENSP00000469666  
Reactome Protein details: Q9BPU9

B9D2 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for B9D2
OriGene Custom MassSpec
OriGene Custom Protein Services for B9D2
GenScript Custom Purified and Recombinant Proteins Services for B9D2
Novus Biologicals B9D2 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for B9D2

B9D2 Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for B9D2
Novus Biologicals B9D2 Antibodies
Abcam antibodies for B9D2
Cloud-Clone Corp. Antibodies for B9D2
ThermoFisher Antibodies for B9D2
Search LSBio for Antibodies for B9D2

B9D2 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for B9D2
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for B9D2
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for B9D2
Cloud-Clone Corp. CLIAs for B9D2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
1 InterPro protein domain:
 IPR010796 B9_dom

Graphical View of Domain Structure for InterPro Entry Q9BPU9

ProtoNet protein and cluster: Q9BPU9

UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9
Similarity: Belongs to the B9D family
Similarity: Contains 1 B9 domain


B9D2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: B9D2_HUMAN, Q9BPU9
Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and
acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
GO:0043015gamma-tubulin binding ISS--
     
B9D2 for ontologies           About GeneDecksing


Phenotypes:
     12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for B9d2):
 cellular  craniofacial  digestive/alimentary  growth/size/body  hematopoietic system 
 homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system  mortality/aging 
 respiratory system  vision/eye 

B9D2 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B9D2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for B9D2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B9D2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for B9D2

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat B9D2 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate B9D2:
hsa-miR-3691-5p
SwitchGear 3'UTR luciferase reporter plasmidB9D2 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for B9D2
Predesigned siRNA for gene silencing in human, mouse, rat B9D2

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for B9D2

Clone
Products:
     
OriGene clones in human, mouse for B9D2 (see all 6)
OriGene ORF clones in 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

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for B9D2
Browse ESI BIO Cell Lines and PureStem Progenitors for B9D2 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B9D2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
B9D2_HUMAN, Q9BPU9: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Nucleus
(By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton5
cytosol4
extracellular3
nucleus2
peroxisome1

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--
GO:0005813centrosome IDA19208769
GO:0005829cytosol TAS--
GO:0016020membrane IEA--
GO:0036038TCTN-B9D complex ISS--

B9D2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for B9D2 About                                                                                                See pathways by source

SuperPathContained pathways About
1Mitotic Metaphase and Anaphase
Mitotic Anaphase0.94
Mitotic Metaphase and Anaphase0.93
Separation of Sister Chromatids0.94
2Cell Cycle, Mitotic
Cell Cycle, Mitotic0.90
M Phase0.62
Cell Cycle0.90
3Mitotic Prometaphase
Mitotic Prometaphase0.92
Resolution of Sister Chromatid Cohesion0.92

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



3 Reactome Pathways for B9D2
    Resolution of Sister Chromatid Cohesion
Mitotic Prometaphase
Separation of Sister Chromatids



B9D2 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B9D2
Interactions:

    Search GeneGlobe Interaction Network for B9D2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for B9D2 (Q9BPU91, 2, 3 ENSP000002435784) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
InteractantInteraction Details
GeneCardExternal ID(s)
INVSQ9Y2831, 2, 3, ENSP000002624574EBI-6958971,EBI-751472 MINT-8201267 MINT-8201190 MINT-8201172 MINT-8201254 I2D: score=1 STRING: ENSP00000262457
TTC30BQ8N4P21, 2, 3, ENSP000003861814EBI-6958971,EBI-6958994 MINT-8201154 MINT-8201211 MINT-8201254 I2D: score=1 STRING: ENSP00000386181
CENPEENSP000002651484STRING: ENSP00000265148
CENPFENSP000003559224STRING: ENSP00000355922
NDE1ENSP000003458924STRING: ENSP00000345892
About this table

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000278mitotic cell cycle TAS--
GO:0042384cilium assembly ISS--

B9D2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for B9D2



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

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: BQ900587
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000243578(uc002oqj.2) ENST00000594416 ENST00000601597
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat B9D2 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate B9D2:
hsa-miR-3691-5p
SwitchGear 3'UTR luciferase reporter plasmidB9D2 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for B9D2
Predesigned siRNA for gene silencing in human, mouse, rat B9D2
Clone
Products:
     
OriGene clones in human, mouse for B9D2 (see all 6)
OriGene ORF clones in 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
Primer
Products:
    
OriGene qPCR primer pairs and template standards for B9D2
OriGene qSTAR qPCR primer pairs in human, mouse for B9D2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat B9D2
  QuantiTect SYBR Green Assays in human, mouse, rat B9D2
  QuantiFast Probe-based Assays in human, mouse, rat B9D2

Additional mRNA sequence: 

BC004157.2 BC004444.1 

5 DOTS entries:

DT.308499  DT.446142  DT.101976621  DT.95268300  DT.99999889 

Selected AceView cDNA sequences (see all 57):

AW247300 CB529481 BM666419 BQ427546 BI820173 BU609059 BM833644 CA945159 
BE794701 AI972225 BQ575046 BQ052502 BI833871 BQ576019 BM797302 CB128896 
BF438399 BM971457 BM713204 AW518214 AI097326 BE045623 NM_030578 BQ647466 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

B9D2 expression in normal human tissues (normalized intensities)      B9D2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGAGGTGCTC
B9D2 Expression
About this image


B9D2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood
B9D2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

B9D2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.567596
    Custom PCR Arrays for B9D2
Primer
Products:
OriGene qPCR primer pairs and template standards for B9D2
OriGene qSTAR qPCR primer pairs in human, mouse for B9D2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat B9D2
QuantiTect SYBR Green Assays in human, mouse, rat B9D2
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 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

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for B9D2 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia B9d21 , 5 B9 protein domain 21, 5 88.19(n)1
96.57(a)1
  7 (13.97 cM)5
2329871  NM_172148.11  NP_742160.11 
 256811585 
lizard
(Anolis carolinensis)
Reptilia B9D26
B9 protein domain 2
76(a)
1 ↔ 1
LGf(3811580-3821850)
African clawed frog
(Xenopus laevis)
Amphibia Xl.181902 Xenopus laevis transcribed sequence with moderate similarity more 72.69(n)    BX847423.1 
zebrafish
(Danio rerio)
Actinopterygii b9d21 B9 protein domain 2 67.82(n)
75.86(a)
  436667  NM_001002394.1  NP_001002394.1 
fruit fly
(Drosophila melanogaster)
Insecta CG427301 CG42730 53.37(n)
45.09(a)
  10178891  NM_001201775.2  NP_001188704.1 
worm
(Caenorhabditis elegans)
Secernentea mksr-21 mksr-2 47.62(n)
43.43(a)
  189676  NM_067785.1  NP_500186.1 


ENSEMBL Gene Tree for B9D2 (if available)
TreeFam Gene Tree for B9D2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
Paralogs for B9D2 gene
B9D12  
3 SIMAP similar genes for B9D2 using alignment to 2 protein entries:     B9D2_HUMAN (see all proteins):
FAM138C    PPT1    SIPA1L3

B9D2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for B9D2 (see all 206)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0366264
Meckel syndrome 10 (MKS10)4--see VAR_0366262 S R mis40--------
rs114663101,2
C,F,H--41861858(-) ttgctG/Attccc 1 -- int19Minor allele frequency- A:0.03NA EU NS 720
rs1889668431,2
--41861871(+) GCCAAG/TGCCCT 1 -- int10--------
rs1813245741,2
--41861968(+) GTGGGA/GAGACG 1 -- int10--------
rs1156145341,2
F--41862232(+) AAAGGG/ATAAGA 1 -- int11Minor allele frequency- A:0.02WA 118
rs116669331,2
C,F,A,H--41862253(+) aggatA/Gtattt 1 -- int123Minor allele frequency- G:0.45NS EA NA WA CSA 2352
rs133459811,2
C--41862463(+) TGAAAC/TCTCag 1 -- int10--------
rs1417839511,2
--41862547(+) AGTTCA/GAGACC 1 -- int10--------
rs1507428901,2
--41862562(+) TGACCA/GCCTTG 1 -- int10--------
rs1391191971,2
--41862636(+) CTGTAA/GTCCCA 1 -- int10--------

HapMap Linkage Disequilibrium report for B9D2 (41860322 - 41870078 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for B9D2:    About this table    
Variant IDTypeSubtypePubMed ID
esv1542493CNV Deletion17803354
esv2659362CNV Deletion23128226
nsv521311CNV Gain19592680

Human Gene Mutation Database (HGMD): B9D2
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing B9D2
DNA2.0 Custom Variant and Variant Library Synthesis for B9D2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 611951   
OMIM disorders: 614175  
UniProtKB/Swiss-Prot: B9D2_HUMAN, Q9BPU9
  • Meckel syndrome 10 (MKS10) [MIM:614175]: A disorder characterized by a combination of renal cysts and
    variably associated features including developmental anomalies of the central nervous system (typically
    encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for B9D2:    About MalaCards
    meckel syndrome 10    b9d2-related meckel syndrome    meckel syndrome 1    encephalocele
    encephaloceles    meckel syndrome    cystic kidney    nephronophthisis
    polydactyly    multiple myeloma    myeloma    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for B9D2:
    Nephronophthisis     Cystic kidney     Polydactyly

    B9D2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B9D2
    Human Genome Epidemiology (HuGE) Navigator: B9D2 (5 documents)

    Export disorders for B9D2 gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for B9D2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with B9D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of a ciliary B9 protein complex causes Meckel syndrome. (PubMed id 21763481)1, 2, 3 Dowdle W.E....Reiter J.F. (Am. J. Hum. Genet. 2011)
    2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    3. Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. (PubMed id 21054877)1, 4 Ned R.M....Dowling N.F. (BMC Med. Genet. 2010)
    4. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. (PubMed id 18936436)1, 4 Chang M.H....Khoury M.J. (Am. J. Epidemiol. 2009)
    5. 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. (J. Cell Sci. 2009)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    8. The stumpy gene is required for mammalian ciliogenesis. (PubMed id 18287022)1 Town T....Flavell R.A. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    10. Identification of ICIS-1, a new protein involved in cilia stability. (PubMed id 17127412)1 Ponsard C....Tournier F. (Front. Biosci. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 80776 HGNC: 28636 AceView: MGC4093 Ensembl:ENSG00000123810 euGenes: HUgn80776
    ECgene: B9D2 H-InvDB: B9D2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for B9D2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for B9D2  
     OriGene qPCR primer pairs and template standards for B9D2   OriGene Protein Over-expression Lysate for B9D2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for B9D2  
     OriGene qSTAR qPCR primer pairs in human, mouse for B9D2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for B9D2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for B9D2   OriGene Custom Protein Services for B9D2  

     
     
     Block miRNA regulation of human, mouse, rat B9D2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing B9D2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B9D2 Predesigned siRNA for gene silencing in human, mouse, rat B9D2
     QuantiFast Probe-based Assays in human, mouse, rat B9D2 QuantiTect SYBR Green Assays in human, mouse, rat B9D2
     Custom PCR Arrays for B9D2 Search Chromatin IP Primers for B9D2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat B9D2  Search GeneGlobe Interaction Network for B9D2
     Regulatory tfbs in B9D2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for B9D2 GenScript cDNA clones with any tag delivered in your preferred vector for B9D2
     GenScript Custom Assay Services for B9D2 GenScript Custom overexpressing Cell Line Services for B9D2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for B9D2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for B9D2
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     B9D2 antibodies
     B9D2 lysates
     Antibodies for B9D2
     See all of Abcam's Antibodies, Kits and Proteins for B9D2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for B9D2
     Antibodies for B9D2
     ELISAs for B9D2
     CLIAs for B9D2



     Browse ESI BIO Cell Lines and PureStem Progenitors for B9D2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B9D2
     SwitchGear 3'UTR luciferase reporter plasmids for B9D2
     SwitchGear Promoter luciferase reporter plasmids for B9D2
     ThermoFisher Antibodies for B9D2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B9D2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B9D2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for B9D2
     Search LSBio for Antibodies for B9D2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      B9D2 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4