Gene
shha
- ID
- ZDB-GENE-980526-166
- Name
- sonic hedgehog signaling molecule a
- Symbol
- shha Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity and patched binding activity. Involved in regulation of gene expression. Acts upstream of or within several processes, including animal organ development; chordate embryonic development; and neurogenesis. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. Is expressed in several structures, including central nervous system; digestive system; fin; head; and mesoderm. 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. Orthologous to human SHH (sonic hedgehog signaling molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 458 figures from 346 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 32 figures from 21 publications
- Cross-Species Comparison
- Alliance
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 |
| PTM | IPR006141 | Intein N-terminal splicing region |
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 | Intein N-terminal splicing region |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0B5JF88
|
418 | ||||||||
|
UniProtKB:Q1MTB5
|
418 | ||||||||
|
UniProtKB:Q92008
|
418 |
Interactions and Pathways
Plasmids