Entity Details

Primary name B9D2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BPU9
EntryNameB9D2_HUMAN
FullNameB9 domain-containing protein 2
TaxID9606
Evidenceevidence at protein level
Length175
SequenceStatuscomplete
DateCreated2007-10-23
DateModified2021-06-02

Ontological Relatives

GenesB9D2

GO terms

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GOName
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0007052 mitotic spindle organization
GO:0016020 membrane
GO:0036038 MKS complex
GO:0036064 ciliary basal body
GO:0043015 gamma-tubulin binding
GO:0060271 cilium assembly
GO:0097711 ciliary basal body-plasma membrane docking

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR010796 B9-type C2 domainFamilyFamily

Diseases

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Disease IDSourceNameDescription
614175 OMIMMeckel syndrome 10 (MKS10)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. The disease is caused by variants affecting the gene represented in this entry.
614175 OMIMMeckel syndrome 10 (MKS10)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. The disease is caused by variants affecting the gene represented in this entry.