Gene
shhb
- ID
- ZDB-GENE-980526-41
- Name
- sonic hedgehog signaling molecule b
- Symbol
- shhb Nomenclature History
- Previous Names
-
- tiggy winkle hedgehog
- twh
- twhh
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and patched binding activity. Involved in several processes, including embryonic cranial skeleton morphogenesis; endocardial cell differentiation; and nervous system development. Predicted to localize to extracellular space. 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. Is expressed in several structures, including axis; forebrain; head; neural keel; and neural plate. Orthologous to human SHH (sonic hedgehog signaling molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 61 figures from 49 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu390 (30 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| holoprosencephaly 3 | Alliance | Holoprosencephaly 3 | 142945 |
| solitary median maxillary central incisor | Alliance | Single median maxillary central incisor | 147250 |
| Microphthalmia with coloboma 5 | 611638 | ||
| Schizencephaly | 269160 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000320 | Hedgehog, N-terminal signalling domain |
| Domain | IPR001767 | Hedgehog protein, Hint domain |
| Domain | IPR003586 | Hint domain C-terminal |
| Domain | IPR003587 | Hint domain N-terminal |
| Family | IPR001657 | Hedgehog protein |
| Homologous_superfamily | IPR009045 | Hedgehog signalling/DD-peptidase zinc-binding domain superfamily |
| Homologous_superfamily | IPR036844 | Hint domain superfamily |
Domain Details Per Protein
| Protein | Length | Hedgehog, N-terminal signalling domain | Hedgehog protein | Hedgehog protein, Hint domain | Hedgehog signalling/DD-peptidase zinc-binding domain superfamily | Hint domain C-terminal | Hint domain N-terminal | Hint domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q90419
|
416 | |||||||
|
UniProtKB:Q6DBX7
|
416 |
Interactions and Pathways
No data available
Plasmids