Shh Gene Summary [Mouse]
Enables several functions, including cholesterol-protein transferase activity; laminin-1 binding activity; and patched binding activity. Involved in several processes, including hemopoiesis; positive regulation of T cell activation; and regulation of smooth muscle cell differentiation. Acts upstream of or within several processes, including nervous system development; respiratory system development; and tube morphogenesis. Located in several cellular components, including cell surface; extracellular space; and membrane raft. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study brachydactyly type A1; holoprosencephaly 3; and nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in several diseases, including Hirschsprung's disease; holoprosencephaly (multiple); hypoplastic or aplastic tibia with polydactyly; middle cerebral artery infarction; and polydactyly (multiple). Orthologous to human SHH (sonic hedgehog signaling molecule). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Shh |
| Official Name | sonic hedgehog [Source:MGI Symbol;Acc:MGI:98297] |
| Ensembl ID | ENSMUSG00000002633 |
| Bio databases IDs | |
| Aliases | sonic hedgehog |
| Synonyms | 9530036O11Rik, Dsh, HHG-1, HLP3, HPE3, HX, Hxl3, LOC105375595, M100081, MCOPCB5, ShhNC, SMMCI, sonic hedgehog, sonic hedgehog signaling molecule, TPT, TPTPS |
| 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 Shh often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Hint (Hedgehog/Intein) domain C-terminal region
- morphogen
- Hint module
- peptidase
- calcium ion binding
- enzyme
- protein binding
- zinc binding domain
- glycosaminoglycan binding
- Hedgehog amino-terminal signalling domain
- Hint (Hedgehog/Intein) domain N-terminal region
- endopeptidase
- laminin binding
- transferase
- zinc ion binding
- Hint
- Cardin-Weintraub motif
- signaling domain
- patched binding
Pathways
Biological processes and signaling networks where the Shh 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
- neoplasia
- chronic obstructive pulmonary disease
- obesity
- non-small cell lung cancer
- endometrial hyperplasia
- alopecia
- cancer
- kidney injury
- epithelial neoplasia
- epithelial cancer
phenotypes
- decreased bone mineral content
- decreased lean body mass
- impaired glucose tolerance
- increased circulating HDL cholesterol level
- increased circulating cholesterol level
- increased total body fat amount
- limb grasping
- preweaning lethality complete penetrance
- abnormal atrium myocardium morphology
- abnormal autopod morphology
- abnormal axial skeleton morphology
- abnormal branching involved in lung morphogenesis
- abnormal bronchus morphology
- abnormal cardiovascular system morphology
- abnormal cartilage development
- abnormal cartilage morphology
- abnormal cell physiology
- abnormal cerebellum external granule cell layer morphology
- abnormal chondrocyte differentiation
- abnormal circulating HDL cholesterol level
- abnormal circulating cholesterol level
- abnormal colon morphology
- abnormal craniofacial bone morphology
- abnormal craniofacial morphology
- abnormal cranium morphology
- abnormal cystic duct morphology
- abnormal dermal layer morphology
- abnormal dermis papillary layer morphology
- abnormal digestive organ placement
- abnormal digestive system morphology
- abnormal dorsal-ventral axis patterning
- abnormal duodenum morphology
- abnormal ear morphology
- abnormal embryo development
- abnormal embryo size
- abnormal embryonic/fetal subventricular zone morphology
- abnormal enteric neuron morphology
- abnormal esophagus morphology
- abnormal eye morphology
- abnormal forebrain morphology
- abnormal foregut morphology
- abnormal forelimb zeugopod morphology
- abnormal frontal bone morphology
- abnormal gallbladder smooth muscle morphology
- abnormal hair follicle development
- abnormal hair follicle morphology
- abnormal hair follicle orientation
- abnormal hair shaft morphology
- abnormal heart left atrium morphology
- abnormal heart morphology
- abnormal hindlimb morphology
- abnormal hindlimb zeugopod morphology
- abnormal humerus morphology
- abnormal joint morphology
- abnormal kidney morphology
- abnormal limb bone morphology
- abnormal limb development
- abnormal limb morphology
- abnormal liver development
- abnormal long bone morphology
- abnormal lung development
- abnormal lung morphology
- abnormal lung saccule morphology
- abnormal lung vasculature morphology
- abnormal maxilla morphology
- abnormal motor neuron morphology
- abnormal nasal pit morphology
- abnormal nervous system morphology
- abnormal neural tube morphology
- abnormal neurocranium morphology
- abnormal optic cup morphology
- abnormal optic stalk morphology
- abnormal optic vesicle formation
- abnormal otic vesicle development
- abnormal phalanx morphology
- abnormal pharynx morphology
- abnormal posterior semicircular canal morphology
- abnormal postnatal subventricular zone morphology
- abnormal prenatal growth/weight/body size
- abnormal pulmonary artery morphology
- abnormal respiratory conducting tube morphology
- abnormal respiratory system morphology
- abnormal rib morphology
- abnormal skeleton morphology
- abnormal small intestine morphology
- abnormal smooth muscle morphology
- abnormal somite shape
- abnormal spinal cord interneuron morphology
- abnormal stomach glandular epithelium morphology
- abnormal submandibular gland morphology
- abnormal superior semicircular canal morphology
- abnormal telencephalon morphology
- abnormal tracheal cartilage morphology
- abnormal tracheal smooth muscle morphology
- abnormal vascular smooth muscle morphology
- abnormal vasculogenesis
- abnormal vertebrae morphology
- absent cartilage
- absent diencephalon
- absent endolymphatic duct
- absent external female genitalia
- absent external male genitalia
- absent fibula
- absent floor plate
- absent forelimb
- absent hair follicle inner root sheath
- absent hair follicles
- absent hindlimb
- absent lateral semicircular canal
- absent mouth
- absent notochord
- absent pulmonary vein
- absent scala media
- absent tibia
- absent tracheal cartilage rings
- absent utricle
- absent vertebrae
- absent vestibular saccule
- absent vestibulocochlear ganglion
- acephaly
- adactyly
- alopecia
- anal atresia
- annular pancreas
- anophthalmia
- bowed fibula
- bowed tibia
- brachydactyly
- brachyphalangia
- cerebellum hypoplasia
- cervical vertebral fusion
- cyclopia
- decreased body weight
- decreased brain size
- decreased brain weight
- decreased chondrocyte proliferation
- decreased embryo size
- decreased fetal size
- decreased keratinocyte proliferation
- decreased midbrain size
- decreased motor neuron number
- decreased rib number
- decreased somite size
- decreased spinal cord size
- embryonic growth retardation
- embryonic lethality during organogenesis incomplete penetrance
- epidermal hyperplasia
- fetal growth retardation
- fused joints
- fusion of atlas and odontoid process
- gastric metaplasia
- hemimelia
- holoprosencephaly
- impaired branching involved in bronchus morphogenesis
- impaired lung lobe morphogenesis
- increased apoptosis
- lethality throughout fetal growth and development incomplete penetrance
- microcephaly
- microphthalmia
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- notochord degeneration
- occipital bone foramen
- oligodactyly
- perinatal lethality
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- polydactyly
- postnatal lethality incomplete penetrance
- prenatal lethality incomplete penetrance
- pulmonary hypoplasia
- short fibula
- short limbs
- short metacarpal bones
- short tibia
- slow postnatal weight gain
- small gallbladder
- small olfactory bulb
- small stomach
- stomach epithelial hyperplasia
- syndactyly
- thick epidermis
- thin interparietal bone
- tracheoesophageal fistula
role in cell
- activation in
- phosphorylation in
- proliferation
- cell death
- expression in
- migration
- apoptosis
- production in
- formation
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- glutaminergic synapse
- Cytoplasm
- presynaptic regions
- cell surface
- postsynaptic region
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- cytoplasmic aggregates
- cytosol
- endoplasmic reticulum lumen
- nucleoplasm
- synaptic vesicles
- synapse
- extracellular matrix
- membrane rafts
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Shh gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lung-associated mesenchyme development
- negative regulation of mesenchymal cell apoptotic process
- somite development
- epithelial cell proliferation involved in prostate gland development
- axon guidance
- positive regulation of epithelial cell proliferation involved in prostate gland development
- branching morphogenesis of a tube
- thalamus development
- prostate epithelial cord elongation
- dorsal/ventral pattern formation
- polarity specification of anterior/posterior axis
- neuroblast proliferation
- positive regulation of skeletal muscle tissue development
- positive regulation of transcription, DNA-dependent
- positive regulation of skeletal muscle cell proliferation
- heart looping
- skeletal muscle cell proliferation
- cell fate specification
- positive regulation of kidney smooth muscle cell differentiation
- negative regulation of kidney smooth muscle cell differentiation
- positive regulation of protein import into nucleus
- cell-cell signaling
- positive regulation of cerebellar granule cell precursor proliferation
- pattern specification process
- primary prostatic bud elongation
- organ formation
- positive regulation of immature T cell proliferation in thymus
- ventral midline development
- central nervous system development
- male genitalia development
- mesenchymal cell proliferation involved in lung development
- protein import into nucleus
- hair follicle morphogenesis
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- negative regulation of T cell differentiation in thymus
- regulation of mesenchymal cell proliferation involved in prostate gland development
- negative regulation of alpha-beta T cell differentiation
- salivary gland cavitation
- mesenchymal smoothened signaling pathway involved in prostate gland development
- positive regulation of T cell differentiation in thymus
- Bergmann glial cell differentiation
- positive regulation of cell proliferation
- palate development
- regulation of stem cell proliferation
- apoptotic signaling pathway
- cerebellar granule cell precursor proliferation
- lung epithelium development
- alpha-beta T cell differentiation
- blood coagulation
- positive regulation of transcription from RNA polymerase II promoter
- CD4-positive or CD8-positive, alpha-beta T cell lineage commitment
- epithelial cell proliferation involved in salivary gland morphogenesis
- positive regulation of alpha-beta T cell differentiation
- thymus development
- heart development
- positive regulation of cell division
- neuron fate commitment
- stem cell proliferation
- camera-type eye development
- positive regulation of sclerotome development
- oligodendrocyte differentiation
- T cell differentiation in thymus
- regulation of glial cell proliferation
- spinal cord motor neuron differentiation
- establishment of epithelial cell polarity
- osteoblast development
- embryonic skeletal system development
- androgen metabolic process
- thyroid gland development
- metanephros development
- positive regulation of striated muscle cell differentiation
- dopaminergic neuron differentiation
- branching involved in ureteric bud morphogenesis
- epithelial-mesenchymal cell signaling
- inner ear development
- regulation of prostatic bud formation
- myoblast differentiation
- embryonic digestive tract morphogenesis
- spinal cord dorsal/ventral patterning
- positive regulation of astrocyte differentiation
- artery development
- lymphoid progenitor cell differentiation
- negative regulation of cholesterol efflux
- branching involved in salivary gland morphogenesis
- embryonic digit morphogenesis
- bud outgrowth involved in lung branching
- positive regulation of oligodendrocyte differentiation
- midbrain development
- forebrain development
- hindbrain development
- embryonic forelimb morphogenesis
- embryonic hindlimb morphogenesis
- dorsal/ventral neural tube patterning
- embryonic pattern specification
- determination of left/right asymmetry in lateral mesoderm
- positive regulation of neuroblast proliferation
- smoothened signaling pathway
- trachea morphogenesis
- positive thymic T cell selection
- endocytosis
- cellular response to lithium ion
- negative regulation of gene expression
- positive regulation of mesenchymal cell proliferation involved in ureter development
- neural crest cell migration
- metanephric mesenchymal cell proliferation involved in metanephros development
- positive regulation of gene expression
- striated muscle tissue development
- regulation of gene expression
- positive regulation of Wnt receptor signaling pathway
- prostate gland development
- negative thymic T cell selection
- regulation of protein localization to nucleus
- negative regulation of cell migration
- lung lobe morphogenesis
- oligodendrocyte development
- telencephalon regionalization
- positive regulation of ureter smooth muscle cell differentiation
- negative regulation of ureter smooth muscle cell differentiation
- odontogenesis of dentin-containing tooth
- ectoderm development
- vasculogenesis
- embryonic foregut morphogenesis
- formation of anatomical boundary
- intermediate filament organization
- mesenchymal cell apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- embryonic limb morphogenesis
- self proteolysis
- negative regulation of cell differentiation
- patterning of blood vessels
- regulation of odontogenesis
- metanephric collecting duct development
- canonical Wnt receptor signaling pathway
- pancreas development
- lung development
- negative regulation of transcription elongation from RNA polymerase II promoter
- intein-mediated protein splicing
- limb bud formation
- regulation of proteolysis
- left lung development
- smooth muscle tissue development
- stem cell development
- cell development
- hindgut morphogenesis
- regulation of cell proliferation
- right lung development
- negative regulation of canonical Wnt receptor signaling pathway
- negative regulation of T cell proliferation
- negative regulation of apoptotic process
- T cell proliferation
- positive regulation of smoothened signaling pathway
- protein autoprocessing
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- extracellular space
- membrane raft
- cytosol
- Golgi membrane
- endoplasmic reticulum
- Golgi apparatus
- extracellular region
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- glycosaminoglycan binding
- calcium ion binding
- endopeptidase activity
- peptidase activity
- laminin-1 binding
- patched binding
- morphogen activity