B9d2 Gene Summary [Mouse]

Enables gamma-tubulin binding activity. Involved in cilium assembly. Located in membrane. Part of MKS complex. Human ortholog(s) of this gene implicated in Joubert syndrome. Orthologous to human B9D2 (B9 domain containing 2). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
B9d2
Official Name
B9 protein domain 2 [Source:MGI Symbol;Acc:MGI:2387643]
Ensembl ID
ENSMUSG00000063439
Bio databases IDs NCBI: 232987 Ensembl: ENSMUSG00000063439
Aliases B9 protein domain 2
Synonyms B9 domain containing 2, B9 protein domain 2, ICIS-1, JBTS34, MGC4093, MKS10, MKSR-2, RGD1566122, stumpy
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse B9d2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • gamma-tubulin binding
  • Ciliary basal body-associated, B9 protein
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Joubert syndrome
  • coronary artery disease
  • Joubert syndrome related disorder
  • meckel syndrome type 10
  • Joubert syndrome type 1
  • ciliopathy
regulated by
regulates
role in cell
  • assembly
  • ciliogenesis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • ciliary transition zone
  • cellular membrane
  • basal bodies
  • centrosome
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse B9d2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cilium morphogenesis

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • centrosome
  • cilium basal body
  • membrane
  • cytosol
  • TCTN-B9D complex

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • gamma-tubulin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.