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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 enable calcium ion binding activity and patched binding activity. Acts upstream of or within several processes, including embryonic cranial skeleton morphogenesis; endocardial cell differentiation; and nervous system development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. Is expressed in several structures, including axis; central nervous system; head; neural keel; and neural plate. 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
Expression
All Expression Data
55 figures from 43 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With shhb Human Ortholog
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
Associated With shhb Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:A0A0B5JJZ7 416
UniProtKB:Q6DBX7 416
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations