Ank Gene Summary [Mouse]
Enables inorganic diphosphate transmembrane transporter activity. Involved in several processes, including cementum mineralization; diphosphate metabolic process; and inhibition of non-skeletal tissue mineralization. Located in plasma membrane. Is active in extracellular region. Is expressed in several structures, including bone; connective tissue; olfactory epithelium; telencephalon; and vibrissa follicle. Used to study craniometaphyseal dysplasia. Human ortholog(s) of this gene implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis. Orthologous to human ANKH (ANKH inorganic pyrophosphate transport regulator). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ank |
| Official Name | progressive ankylosis [Source:MGI Symbol;Acc:MGI:3045421] |
| Ensembl ID | ENSMUSG00000022265 |
| Bio databases IDs | |
| Aliases | progressive ankylosis |
| Synonyms | ANK, ANKH inorganic pyrophosphate transport regulator, CCAL2, CMDJ, CPPDD, D15Ertd221e, HANK, KIAA1581, MANK, mKIAA1581, progressive ankylosis, SLC61A1, SLC62A1 |
| 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 Ank often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Progressive ankylosis protein (ANKH)
- ATP transporter
- inorganic phosphate transporter
- inorganic diphosphate transporter
- transporter
Pathways
Biological processes and signaling networks where the Ank gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- diabetes mellitus
- Alzheimer disease
- glaucoma
- chondrocalcinosis type 2
- autosomal dominant craniometaphyseal dysplasia
- prostatic carcinoma
- prostate cancer
- diabetic neuropathy
phenotypes
- abnormal auditory bulla morphology
- abnormal basioccipital bone morphology
- abnormal bone mineralization
- abnormal bone structure
- abnormal cartilage morphology
- abnormal cementum morphology
- abnormal chondrocyte morphology
- abnormal circulating enzyme level
- abnormal cranial foramen morphology
- abnormal craniofacial bone morphology
- abnormal cranium morphology
- abnormal digit morphology
- abnormal femur morphology
- abnormal foramen magnum morphology
- abnormal gait
- abnormal intervertebral disk morphology
- abnormal ion homeostasis
- abnormal joint morphology
- abnormal ligament morphology
- abnormal limb morphology
- abnormal middle ear ossicle morphology
- abnormal osteoblast physiology
- abnormal osteoclast differentiation
- abnormal posture
- abnormal sesamoid bone of gastrocnemius morphology
- abnormal skeleton morphology
- abnormal synovial joint cavity morphology
- abnormal temporal bone petrous part morphology
- abnormal tendon morphology
- abnormal tooth hard tissue morphology
- abnormal transverse acetabular ligament morphology
- absent paranasal sinus
- arthritis
- calcified aorta
- calcified intervertebral disk
- calcified joint
- calcified tendon
- club-shaped femur
- craniofacial hyperostosis
- decreased body length
- decreased body weight
- decreased compact bone thickness
- decreased grip strength
- decreased joint mobility
- decreased trabecular bone connectivity density
- decreased trabecular bone volume
- foramen magnum stenosis
- fused joints
- fusion of middle ear ossicles
- hyperostosis
- increased bone mineral content
- increased bone mineral density
- increased circulating alkaline phosphatase level
- increased diameter of femur
- incudomalleolar fusion
- kyphosis
- mandibular hyperostosis
- premature death
- reduced female fertility
- reduced male fertility
- short femur
- thick neurocranium
role in cell
- expression in
- homeostasis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- Cytoplasm
- Extracellular Space
- outer membranes
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ank gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cementum mineralization
- phosphate ion homeostasis
- muscle cell homeostasis
- calcium ion homeostasis
- transmembrane transport
- bone mineralization
- inorganic diphosphate transport
- skeletal system development
- locomotory behavior
- diphosphate metabolic process
- gene expression
- phosphate ion transmembrane transport
- regulation of bone mineralization
Cellular Component
Where in the cell the gene product is active
- membrane
- extracellular region
- outer membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- inorganic phosphate transmembrane transporter activity
- inorganic diphosphate transmembrane transporter activity
- ATP transmembrane transporter activity