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 | |
| 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 |
| Orthologies |
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.
regulated by
disease
- Joubert syndrome
- coronary artery disease
- Joubert syndrome related disorder
- meckel syndrome type 10
- Joubert syndrome type 1
- ciliopathy
phenotypes
- preweaning lethality complete penetrance
- abdominal situs ambiguus
- abnormal Mullerian duct morphology
- abnormal Wolffian duct connection
- abnormal adenohypophysis morphology
- abnormal adrenal gland morphology
- abnormal atrioventricular cushion morphology
- abnormal brain internal capsule morphology
- abnormal brain morphology
- abnormal brain vasculature morphology
- abnormal choroid plexus morphology
- abnormal diaphragm morphology
- abnormal ductus venosus topology
- abnormal ductus venosus valve topology
- abnormal eye muscle morphology
- abnormal forebrain morphology
- abnormal heart position or orientation
- abnormal hepatic vein morphology
- abnormal hindbrain morphology
- abnormal hypoglossal nerve topology
- abnormal incisor morphology
- abnormal infrahyoid muscle connection
- abnormal interatrial septum morphology
- abnormal intestine placement
- abnormal intrathoracic topology of vagus nerve
- abnormal liver morphology
- abnormal maxilla morphology
- abnormal mitral valve cusp morphology
- abnormal nasal septum morphology
- abnormal neurohypophysis morphology
- abnormal olfactory bulb morphology
- abnormal optic chiasm morphology
- abnormal optic cup morphology
- abnormal optic stalk morphology
- abnormal ovary morphology
- abnormal pancreas morphology
- abnormal pectinate muscle morphology
- abnormal rib morphology
- abnormal spinal cord morphology
- abnormal subclavian artery origin
- abnormal thymus topology
- abnormal tongue epithelium morphology
- abnormal umbilical vein topology
- abnormal vertebral arch morphology
- abnormal vertebral artery morphology
- abnormal vertebral artery topology
- abnormal vertebral body morphology
- abnormal vitelline vein topology
- absent adenohypophysis
- absent ductus venosus valve
- absent intrahepatic inferior vena cava segment
- absent oculomotor nerve
- absent segment of anterior cerebral artery
- absent segment of posterior cerebral artery
- absent upper incisors
- accessory spleen
- additional anastomosis between intracranial vertebral arteries
- anastomosis between internal carotid artery and basilar artery
- anomalous pulmonary venous connection
- aortic arch coarctation
- aphakia
- bicuspid pulmonary valve
- bifid ureter
- blood in lymph vessels
- common atrium
- double inlet heart left ventricle
- double outlet left ventricle
- double outlet right ventricle
- double ureter
- dual inferior vena cava
- ductus venosus stenosis
- ectopic ovary
- embryo cyst
- embryo tumor
- enlarged brain ventricles
- enlarged lymphatic vessel
- fusion of vertebral arches
- hemangioma
- heterotaxia
- intestinal/bowel diverticulum
- inverse situs of great intrathoracic arteries
- left pulmonary isomerism
- left sided inferior vena cava
- muscular ventricular septal defect
- perimembraneous ventricular septal defect
- persistent right 6th pharyngeal arch artery
- persistent right dorsal aorta
- polydactyly
- reduced sympathetic cervical ganglion size
- short tongue
- small pancreas
- small spleen
- small superior cervical ganglion
- small superior vagus ganglion
- subcutaneous edema
- symmetric azygos veins
- thin motoric part of trigeminal nerve
- thin oculomotor nerve
- thoracoschisis
- transposition of great arteries
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