Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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
rs886038205	C>G,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs886038206	CAC>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, downstream transcript variant
rs886039811	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs1057522520	C>A,G	Likely-pathogenic	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, downstream transcript variant
rs1598057395	ATACAGGCTACAACCCCCCTGGCCACCAGGCTGAGCTGCCCAGGCCCCTGGAGACCCCAGAGCATTCCCAGCCTGAACCTAAGACAGAAAACGAGGTGAAGTCTGTCCTAGGACAAGTCCTGCCCAGGGCCCAGGTCAGAATGAGGACCTACCGGCCAGGTGAGAAGGGCACGTGCACGGCCCCATAGCCTCGAACCACATCGTTCCCGAA>-	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, splice donor variant

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0005515	Function	Protein binding	IPI	26638075, 27173435, 32726168, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19208769
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0008158	Function	Hedgehog receptor activity	IEA
GO:0008158	Function	Hedgehog receptor activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0035869	Component	Ciliary transition zone	ISS
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IDA	19208769
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060563	Process	Neuroepithelial cell differentiation	IEA

MIM	HGNC	e!Ensembl
614144	24123	ENSG00000108641

Protein

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

MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDV
RQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIP
MFVPESTSKLQKFTSWFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRK
LGYDTGPSDTQGVLGPSPPQSFPQ

Sequence length

204

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar vermis agenesis	familial aplasia of the vermis	rs369488112	N/A
Joubert Syndrome	joubert syndrome 27	rs143149764, rs369488112, rs886038206	N/A
Meckel Syndrome	meckel syndrome, type 9	rs143149764	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs1598057395	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	N/A	N/A	ClinVar
Liver Cancer	Liver cancer	Using a CRISPR-based strategy, we identified Nf1, Plxnb1, Flrt2, and B9d1 as suppressors of liver tumor formation.	27956228	CBGDA
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	24886560
Ciliopathies	Associate	24886560
Glycosuria Renal	Associate	34338422
Meckel syndrome type 1	Associate	21493627, 24886560, 25920555

B9D1 (B9 domain containing 1)