Gene table of B9D2 : B9 protein domain 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with B9D2OMIM linkNumber of associated genesgenes
PS249000MECKEL SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 12NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231

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Annotation of the gene B9D2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
RHO GTPase EffectorsR-HSA-1952584.94
RHO GTPases Activate ForminsR-HSA-56632206.01
Resolution of Sister Chromatid CohesionR-HSA-25002576.18
Mitotic Metaphase and AnaphaseR-HSA-25553965.45
Separation of Sister ChromatidsR-HSA-24678135.55
Organelle biogenesis and maintenanceR-HSA-18522414.63
Signaling by Rho GTPasesR-HSA-1943154.43
M PhaseR-HSA-688864.87
Anchoring of the basal body to the plasma membraneR-HSA-56209126.51
Cell Cycle, MitoticR-HSA-692784.16
Mitotic AnaphaseR-HSA-688825.46
Cell CycleR-HSA-16401703.89
Assembly of the primary ciliumR-HSA-56178335.44
Mitotic PrometaphaseR-HSA-688776.08
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
gamma-tubulin bindingGO:00430156.56
tubulin bindingGO:00156314.1
bindingGO:00054880.18
protein bindingGO:00055150.46
cytoskeletal protein bindingGO:00080923.02