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Aliases for B9D2 Gene

Aliases for B9D2 Gene

  • B9 Protein Domain 2 2 3 5
  • MKS1-Related Protein 2 3 4
  • MKSR2 3 4
  • B9 Domain-Containing Protein 2 3
  • Involved In CIlia Stability-1 3
  • ICIS-1 3
  • MKS10 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 Joubert Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Mitotic Metaphase and Anaphase. 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

Enhancers for B9D2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F041430 1.1 VISTA ENCODE 12.3 -67.3 -67262 2.4 HDGF ATF1 ZNF133 GLI4 RAD21 YY1 ZEB1 ZNF335 GLIS2 ZNF366 EXOSC5 SNRPA ENSG00000269843 ZNF526 B9D2 TGFB1 TMEM91 BCKDHA CCDC97 ITPKC
GH19F041294 1.6 FANTOM5 Ensembl ENCODE 12.3 +61.2 61244 16.8 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF526 SNRPA ENSG00000269843 ZNF574 CCDC97 ITPKC TGFB1 SERTAD3 TMEM91 ENSG00000268366
GH19F041366 0.5 ENCODE 11.7 -3.1 -3145 3.0 HDGF PKNOX1 ATF1 ARNT SIN3A ZNF2 ZNF48 ZNF121 GLIS2 ELK1 B9D2 EXOSC5 ENSG00000277744
GH19F041405 1.2 FANTOM5 Ensembl ENCODE 11.5 -43.8 -43800 5.1 HDGF GLI4 ZNF48 GLIS2 ZNF366 FOS EGR2 ZNF202 ZNF362 YY2 TMEM91 CCDC97 ATP5SL EXOSC5 ZNF526 ZNF574 TGFB1 SNRPA ENSG00000255730 B9D2
GH19F041411 0.2 ENCODE 11.5 -47.5 -47491 0.2 ZNF362 ZFHX2 POLR2A PATZ1 SCRT2 EGR2 EXOSC5 B9D2 TGFB1 TMEM91 ERICH4 ATP5SL CCDC97 ENSG00000268475 ENSG00000268987
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around B9D2 on UCSC Golden Path with GeneCards custom track

Promoters for B9D2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216719 340 1201 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF263 SP3
ENSR00001817644 -560 201 BCOR HDGF GTF2E2 ZMYM3 BACH1 ZNF384 ZNF664 ADNP ZNF600 SMARCA5

Genomic Location for B9D2 Gene

Chromosome:
19
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

Genes around B9D2 on UCSC Golden Path with GeneCards custom track

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

    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

Post-translational modifications for B9D2 Gene

No Post-translational modifications

Other Protein References for B9D2 Gene

No data available for DME Specific Peptides for B9D2 Gene

Domains & Families 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 :
  • Contains 1 B9 domain.
  • Belongs to the B9D family.
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 IEA,ISS --
genes like me logo Genes that share ontologies with B9D2: view
genes like me logo Genes that share phenotypes with B9D2: view

Human Phenotype Ontology for B9D2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B9D2 Gene

MGI Knock Outs for B9D2:
  • B9d2 tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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 5
extracellular 3
nucleus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for B9D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 19208769
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with B9D2: view

Pathways & Interactions for B9D2 Gene

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

Gene Ontology (GO) - Biological Process for B9D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007062 sister chromatid cohesion TAS --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS --
genes like me logo Genes that share ontologies with B9D2: view

No data available for SIGNOR curated interactions for B9D2 Gene

Transcripts for B9D2 Gene

mRNA/cDNA for B9D2 Gene

Unigene Clusters for B9D2 Gene

B9 protein domain 2:
Representative Sequences:

Inhibitory RNA Products

Clone 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 (x7.3).

Protein differential expression in normal tissues from HIPED for B9D2 Gene

This gene is overexpressed in Testis (39.8) and Retina (29.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for B9D2 Gene



Protein tissue co-expression partners for B9D2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of B9D2 Gene:

B9D2

SOURCE GeneReport for Unigene cluster for B9D2 Gene:

Hs.567596
genes like me logo Genes that share expression patterns with B9D2: view

Primer 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 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia TGFB1 35
  • 93 (a)
OneToOne
B9D2 34
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia B9D2 34 35
  • 90.1 (n)
mouse
(Mus musculus)
Mammalia B9d2 34 16 35
  • 88.19 (n)
rat
(Rattus norvegicus)
Mammalia B9d2 34
  • 88 (n)
oppossum
(Monodelphis domestica)
Mammalia B9D2 35
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B9D2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b9d2 34
  • 63.24 (n)
Str.13751 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18190 34
zebrafish
(Danio rerio)
Actinopterygii b9d2 34 35
  • 67.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42730 34 35
  • 53.37 (n)
worm
(Caenorhabditis elegans)
Secernentea mksr-2 34 35
  • 47.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6034 34
Species where no ortholog for B9D2 was found in the sources mined by GeneCards:
  • 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

(3) 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
VAR_036626 Meckel syndrome 10 (MKS10) [MIM:614175]
rs750436680 Pathogenic 41,354,765(+) GGTGC(C/T)ACCAG upstream-variant-2KB, reference, missense
rs757863670 Pathogenic 41,358,004(+) CTGAC(A/G)GGAGC reference, missense, utr-variant-5-prime
rs863225150 Pathogenic 41,355,008(-) GCTGG(C/T)CCCGG upstream-variant-2KB, reference, missense
rs786204189 Likely pathogenic 41,357,948(-) ATAGG(-/GGACATGG)CTTAC reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv1542493 CNV deletion 17803354
esv2659362 CNV deletion 23128226
nsv521311 CNV gain 19592680

Variation tolerance for B9D2 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B9D2 Gene

Human Gene Mutation Database (HGMD)
B9D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B9D2

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

Disorders for B9D2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for B9D2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meckel syndrome 10
  • mks10
joubert syndrome 1
  • joubert syndrome
meckel syndrome 1
  • meckel syndrome
joubert syndrome with oculorenal anomalies
  • joubert syndrome 5
spinocerebellar ataxia 29, congenital nonprogressive
  • spinocerebellar ataxia 29
- elite association - COSMIC cancer census association via MalaCards
Search B9D2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for B9D2

Genetic Association Database (GAD)
B9D2
Human Genome Epidemiology (HuGE) Navigator
B9D2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B9D2
genes like me logo Genes that share disorders with B9D2: view

No data available for Genatlas for B9D2 Gene

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 64
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64
  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. (PMID: 21054877) Ned R.M. … Dowling N.F. (BMC Med. Genet. 2010) 3 46 64
  4. 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 46 64
  5. 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 64

Products for B9D2 Gene

Sources for B9D2 Gene

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