B9D1 (B9 domain containing 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27077
Gene name Gene Name - the full gene name approved by the HGNC.
B9 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B9D1
Synonyms (NCBI Gene) Gene synonyms aliases
B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JBTS27, MKS9
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different ge
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs143149764 A>G Likely-pathogenic, pathogenic Splice donor variant
rs201299216 A>T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, missense variant
rs369488112 G>A Pathogenic Intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs373478202 G>A,C,T Pathogenic, uncertain-significance Synonymous variant, stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs771170000 T>C Pathogenic, uncertain-significance 5 prime UTR variant, missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26638075, 27173435, 32726168
GO:0005813 Component Centrosome IDA 19208769
GO:0005829 Component Cytosol TAS
GO:0007224 Process Smoothened signaling pathway ISS
GO:0008158 Function Hedgehog receptor activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614144 24123 ENSG00000108641
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UPM9
Protein name B9 domain-containing protein 1 (MKS1-related protein 1)
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. Required for ciliogenesis and s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07162 B9-C2 11 → 174 Ciliary basal body-associated, B9 protein Domain
Sequence
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (26)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anencephaly Anencephaly rs773607884
Aplasia cutis congenita Aplasia Cutis Congenita rs587777706
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Meckel Syndrome Meckel syndrome GenCC
Joubert Syndrome Joubert syndrome 27 GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 24886560
Ciliopathies Associate 24886560
Glycosuria Renal Associate 34338422
Meckel syndrome type 1 Associate 21493627, 24886560, 25920555