Gene

shha

ID
ZDB-GENE-980526-166
Name
sonic hedgehog signaling molecule a
Symbol
shha Nomenclature History
Previous Names
  • shh
  • fc83d08
  • sonic you
  • sonic-you (1)
  • syu
  • vertebrate hedgehog homolog (1)
  • vhh1 (1)
  • wu:fc83d08 (1)
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Is 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. 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
Expression
All Expression Data
465 figures from 353 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
32 figures from 21 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With shha 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 shha 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
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
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations