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Aliases for B9D2 Gene

Aliases for B9D2 Gene

  • B9 Protein Domain 2 2 3
  • MKS1-Related Protein 2 3 4
  • MKS10 3 6
  • MKSR2 3 4
  • B9 Domain-Containing Protein 2 3
  • Involved In CIlia Stability-1 3
  • ICIS-1 3

External Ids for B9D2 Gene

Previous GeneCards Identifiers for B9D2 Gene

  • GC19M046553
  • GC19M041860
  • GC19M038292

Summaries for B9D2 Gene

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. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include gamma-tubulin binding. An important paralog of this gene is B9D1.

UniProtKB/Swiss-Prot for B9D2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B9D2 Gene

Genomics for B9D2 Gene

Regulatory Elements for B9D2 Gene

Genomic Location for B9D2 Gene

Start:
41,354,417 bp from pter
End:
41,364,540 bp from pter
Size:
10,124 bases
Orientation:
Minus strand

Genomic View for B9D2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B9D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B9D2 Gene

Proteins for B9D2 Gene

  • Protein details for B9D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BPU9-B9D2_HUMAN
    Recommended name:
    B9 domain-containing protein 2
    Protein Accession:
    Q9BPU9
    Secondary Accessions:

    Protein attributes for B9D2 Gene

    Size:
    175 amino acids
    Molecular mass:
    19261 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex). Interacts with TUBG1 (By similarity).

neXtProt entry for B9D2 Gene

Proteomics data for B9D2 Gene at MOPED

Post-translational modifications for B9D2 Gene

No Post-translational modifications

Other Protein References for B9D2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for B9D2 Gene

Domains for B9D2 Gene

Protein Domains for B9D2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B9D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BPU9

UniProtKB/Swiss-Prot:

B9D2_HUMAN :
  • Q9BPU9
Domain:
  • Contains 1 B9 domain.
Family:
  • Belongs to the B9D family.
genes like me logo Genes that share domains with B9D2: view

No data available for Gene Families for B9D2 Gene

Function for B9D2 Gene

Molecular function for B9D2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for B9D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21602787
GO:0043015 gamma-tubulin binding ISS --
genes like me logo Genes that share ontologies with B9D2: view
genes like me logo Genes that share phenotypes with B9D2: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B9D2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for B9D2 Gene

Localization for B9D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B9D2 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B9D2 Gene COMPARTMENTS Subcellular localization image for B9D2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
extracellular 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for B9D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005813 centrosome IDA 19208769
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0035869 ciliary transition zone --
genes like me logo Genes that share ontologies with B9D2: view

Pathways for B9D2 Gene

genes like me logo Genes that share pathways with B9D2: view

Pathways by source for B9D2 Gene

Gene Ontology (GO) - Biological Process for B9D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0042384 cilium assembly ISS --
genes like me logo Genes that share ontologies with B9D2: view

Transcripts for B9D2 Gene

mRNA/cDNA for B9D2 Gene

Unigene Clusters for B9D2 Gene

B9 protein domain 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B9D2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for B9D2 Gene

No ASD Table

Relevant External Links for B9D2 Gene

GeneLoc Exon Structure for
B9D2
ECgene alternative splicing isoforms for
B9D2

Expression for B9D2 Gene

mRNA expression in normal human tissues for B9D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B9D2 Gene

This gene is overexpressed in Whole Blood (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for B9D2 Gene

SOURCE GeneReport for Unigene cluster for B9D2 Gene Hs.567596

genes like me logo Genes that share expressions with B9D2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for B9D2 Gene

Orthologs for B9D2 Gene

This gene was present in the common ancestor of animals.

Orthologs for B9D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B9D2 35
  • 99.53 (n)
  • 98.59 (a)
cow
(Bos Taurus)
Mammalia B9D2 35
  • 90.1 (n)
  • 93.71 (a)
B9D2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B9D2 35
  • 88.38 (n)
  • 92.57 (a)
TGFB1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B9d2 35
  • 88.19 (n)
  • 96.57 (a)
B9d2 16
B9d2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B9D2 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B9d2 35
  • 88 (n)
  • 95.43 (a)
lizard
(Anolis carolinensis)
Reptilia B9D2 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18190 35
tropical clawed frog
(Silurana tropicalis)
Amphibia b9d2 35
  • 63.24 (n)
  • 72 (a)
Str.13751 35
zebrafish
(Danio rerio)
Actinopterygii b9d2 35
  • 67.82 (n)
  • 75.86 (a)
b9d2 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42730 35
  • 53.37 (n)
  • 45.09 (a)
CG42730 36
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mksr-2 35
  • 47.62 (n)
  • 43.43 (a)
mksr-2 36
  • 43 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6034 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToOne
Species with no ortholog for B9D2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for B9D2 Gene

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

Paralogs for B9D2 Gene

Paralogs for B9D2 Gene

Selected SIMAP similar genes for B9D2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with B9D2: view

Variants for B9D2 Gene

Sequence variations from dbSNP and Humsavar for B9D2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1982072 -- 41,358,604(-) GCTTG(A/T)AAATA intron-variant
rs2873369 -- 41,361,818(+) ctcac(A/G)cctgt intron-variant
rs4803458 -- 41,359,388(+) atggt(A/G)aaact intron-variant
rs10550016 -- 41,358,416(+) TCTTC(-/AG)AGAGT intron-variant
rs11083616 -- 41,359,738(+) GCACC(A/G)AGTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B9D2 Gene

Variant ID Type Subtype PubMed ID
nsv521311 CNV Gain 19592680
esv2659362 CNV Deletion 23128226
esv1542493 CNV Deletion 17803354

Relevant External Links for B9D2 Gene

HapMap Linkage Disequilibrium report
B9D2
Human Gene Mutation Database (HGMD)
B9D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B9D2 Gene

Disorders for B9D2 Gene

(1) OMIM Diseases for B9D2 Gene (611951)

UniProtKB/Swiss-Prot

B9D2_HUMAN
  • 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. {ECO:0000269 PubMed:21763481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for B9D2 Gene

Relevant External Links for B9D2

Genetic Association Database (GAD)
B9D2
Human Genome Epidemiology (HuGE) Navigator
B9D2
genes like me logo Genes that share disorders with B9D2: view

Publications for B9D2 Gene

  1. Disruption of a ciliary B9 protein complex causes Meckel syndrome. (PMID: 21763481) Dowdle W.E. … Reiter J.F. (Am. J. Hum. Genet. 2011) 2 3 4
  2. 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. (PMID: 21054877) Ned R.M. … Dowling N.F. (BMC Med. Genet. 2010) 3 48
  3. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. (PMID: 18936436) Chang M.H. … Khoury M.J. (Am. J. Epidemiol. 2009) 3 48
  4. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PMID: 19208769) Bialas N.J. … Leroux M.R. (J. Cell Sci. 2009) 3 4
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 48

Products for B9D2 Gene

Sources for B9D2 Gene

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