B9D2 (B9 domain containing 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 80776
Gene name B9 domain containing 2
Gene symbol B9D2
Synonyms (NCBI Gene)
ICIS-1JBTS34MKS10MKSR-2MKSR2
Chromosome 19
Chromosome location 19q13.2
Summary 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 i
SNPs SNP information provided by dbSNP.
3
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SNP ID Visualize variation Clinical significance Consequence
rs757863670 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs786204189 ATGTCCCC>- Likely-pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant, initiator codon variant
rs1568484575 G>C Likely-pathogenic Coding sequence variant, stop gained
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19 Show/Hide all (19)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21602787, 26638075, 27173435, 32296183, 32726168, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 19208769
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
611951 28636 ENSG00000123810
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BPU9
Protein name B9 domain-containing protein 2 (MKS1-related protein 2)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07162 B9-C2 4 → 164 Ciliary basal body-associated, B9 protein Domain
Sequence 
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHP
IDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWR
EQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC
Sequence length 175
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Joubert syndrome Likely pathogenic; Pathogenic rs786204189, rs750436680, rs863225150, rs757863670 RCV000168253
RCV000201776
RCV000201694
RCV000201607
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 34 Likely pathogenic; Pathogenic rs750436680, rs863225150, rs757863670 RCV002265681
RCV002265683
RCV002265682
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome and related disorders Likely pathogenic; Pathogenic rs750436680, rs863225150, rs2513398193, rs2513408240, rs1487082103 RCV001844085
RCV001844086
RCV003226859
RCV003226860
RCV003330400
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome, type 10 Pathogenic; Likely pathogenic rs1487082103, rs1388769907, rs1568484575 RCV000023919
RCV000993853
RCV001002781
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome Likely pathogenic; Pathogenic rs786204189 RCV001850379
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
B9D2-related disorder Likely benign; Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHIES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliopathy Uncertain significance; Conflicting classifications of pathogenicity ClinVar
CTD, ClinGen 		17127412, 18287022, 19208769, 21422230, 21763481, 26092869, 31411728
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ABSENCE OF PART OF BRAIN — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (51)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anencephaly Anencephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies GENOMICS_ENGLAND_DG 21763481, 26092869
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma Colorectal Cancer GWASDB_DG 24836286
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of spleen Asplenia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital cerebral hernia Congenital Cerebral Hernia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
TMEM218 10 shared diseasesCiliopathy, Lissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Meckel-gruber syndrome, Microgyria 11 shared evidence sourcesDisgenet (Ciliopathy), Disgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Meckel-gruber syndrome), Disgenet (Microgyria) Related via 10 shared diseases including Ciliopathy, Lissencephaly — evidence mostly Disgenet. TOGARAM1 9 shared diseasesCiliopathy, Lissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 11 shared evidence sourcesDisgenet (Ciliopathy), CTD (Ciliopathy), Disgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 9 shared diseases including Ciliopathy, Lissencephaly — evidence mostly Disgenet. TMEM216 10 shared diseasesCiliopathy, Lissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Meckel-gruber syndrome, Microgyria 1 shared pathwayAnchoring of the basal body to the plasma membrane 17 shared evidence sourcesDisgenet (Ciliopathy), ClinGen (Ciliopathy), Disgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), Disgenet (Macrogyria), GWAS catalog (Meckel-gruber syndrome), Orphanet (Meckel-gruber syndrome) +5 more Related via 10 shared diseases including Ciliopathy, Lissencephaly — evidence mostly Disgenet. TMEM237 9 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Meckel-gruber syndrome, Microgyria 11 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Orphanet (Meckel-gruber syndrome), Disgenet (Meckel-gruber syndrome), Disgenet (Microgyria) Related via 9 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. FAM149B1 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 8 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet.
Lung cancer Linked via 2 of 5 related genesTMEM218, TMEM237 Arima syndrome Linked via 2 of 5 related genesTMEM216, TMEM237 Orofaciodigital syndrome Linked via 2 of 5 related genesTMEM216, FAM149B1 Retinitis pigmentosa Linked via 2 of 5 related genesTMEM216, TMEM237 Brown tendon sheath syndrome Linked via 1 of 5 related genesTOGARAM1