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] See more...

Aliases for B9D2 Gene

Aliases for B9D2 Gene

  • B9 Domain Containing 2 2 3 5
  • B9 Domain-Containing Protein 2 3 4
  • MKS1-Related Protein 2 3 4
  • B9 Protein Domain 2 2 3
  • MKSR2 3 4
  • Involved In CIlia Stability-1 3
  • ICIS-1 3
  • JBTS34 3
  • MKSR-2 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 Domain Containing 2) is a Protein Coding gene. Diseases associated with B9D2 include Meckel Syndrome, Type 10 and Meckel Syndrome, Type 1. Among its related pathways are Mitotic Metaphase and Anaphase and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include gamma-tubulin binding. An important paralog of this gene is MKS1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for B9D2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B9D2 Gene

Genomics for B9D2 Gene

GeneHancer (GH) Regulatory Elements for B9D2 Gene

Promoters and enhancers for B9D2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B9D2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B9D2

Top Transcription factor binding sites by QIAGEN in the B9D2 gene promoter:
  • AML1a
  • Arnt
  • ATF6
  • NF-1
  • NF-1/L
  • Nkx2-5
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA

Genomic Locations for B9D2 Gene

Genomic Locations for B9D2 Gene
chr19:41,354,417-41,364,540
(GRCh38/hg38)
Size:
10,124 bases
Orientation:
Minus strand
chr19:41,860,322-41,870,078
(GRCh37/hg19)
Size:
9,757 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

Gene Families for B9D2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for B9D2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B9D2 Gene

GenScript: Design optimal peptide antigens:
  • B9 domain-containing protein 2 (B9D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BPU9

UniProtKB/Swiss-Prot:

B9D2_HUMAN :
  • Belongs to the B9D family.
Family:
  • Belongs to the B9D family.
genes like me logo Genes that share domains with B9D2: view

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.

Phenotypes From GWAS Catalog for B9D2 Gene

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 B9d2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B9D2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
extracellular 3
nucleus 3
plasma membrane 1
peroxisome 1
endosome 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B9D2 Gene

Pathways & Interactions 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:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS,IEA --
GO:0097711 ciliary basal body-plasma membrane docking TAS --
genes like me logo Genes that share ontologies with B9D2: view

No data available for SIGNOR curated interactions for B9D2 Gene

Drugs & Compounds for B9D2 Gene

No Compound Related Data Available

Transcripts for B9D2 Gene

mRNA/cDNA for B9D2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for B9D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for B9D2 Gene



Protein tissue co-expression partners for B9D2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B9D2

SOURCE GeneReport for Unigene cluster for B9D2 Gene:

Hs.567596

Evidence on tissue expression from TISSUES for B9D2 Gene

  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B9D2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with B9D2: view

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 30
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia TGFB1 31
  • 93 (a)
OneToOne
B9D2 30
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia B9D2 31 30
  • 90.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia B9d2 17 31 30
  • 88.19 (n)
rat
(Rattus norvegicus)
Mammalia B9d2 30
  • 88 (n)
oppossum
(Monodelphis domestica)
Mammalia B9D2 31
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B9D2 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b9d2 30
  • 63.24 (n)
Str.13751 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.18190 30
zebrafish
(Danio rerio)
Actinopterygii b9d2 31 30
  • 67.82 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42730 31 30
  • 53.37 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mksr-2 31 30
  • 47.62 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 65 (a)
OneToOne
Cin.6034 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6034 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for B9D2: view image

Paralogs for B9D2 Gene

Paralogs for B9D2 Gene

(3) SIMAP similar genes for B9D2 Gene using alignment to 2 proteins:

  • B9D2_HUMAN
  • M0QY88_HUMAN
genes like me logo Genes that share paralogs with B9D2: view

Variants for B9D2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B9D2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
684427 Likely Pathogenic: Meckel syndrome, type 10 41,363,505(-) G/T MISSENSE_VARIANT
695821 Benign: not provided 41,357,928(-) G/A SYNONYMOUS_VARIANT
697626 Likely Benign: not provided 41,354,919(-) C/T SYNONYMOUS_VARIANT
699099 Likely Benign: not provided 41,354,892(-) C/T SYNONYMOUS_VARIANT
699806 Likely Benign: not provided 41,354,733(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for B9D2 Gene

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)

Additional Variant Information for B9D2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for B9D2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for B9D2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.
  • Joubert syndrome 34 (JBTS34) [MIM:614175]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal recessive. {ECO:0000269 PubMed:26092869}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for B9D2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 WE … Reiter JF (American journal of human genetics 2011) 2 3 4 54
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 41 54
  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 RM … Dowling NF (BMC medical genetics 2010) 3 41 54
  4. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. (PMID: 18936436) Chang MH … CDC/NCI NHANES III Genomics Working Group (American journal of epidemiology 2009) 3 41 54
  5. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PMID: 19208769) Bialas NJ … Leroux MR (Journal of cell science 2009) 3 4 54

Products for B9D2 Gene

Sources for B9D2 Gene