Gene

ano5b

ID
ZDB-GENE-061215-108
Name
anoctamin 5b
Symbol
ano5b Nomenclature History
Previous Names
  • si:packt73.3
  • si:packt90.1
  • si:xx-packt90.1 (1)
  • tmem16eb (1)
  • wu:fb74d12 (1)
  • zgc:158430
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 3; autosomal recessive limb-girdle muscular dystrophy type 2L; gnathodiaphyseal dysplasia; and isolated elevated serum creatine phosphokinase levels. Orthologous to human ANO5 (anoctamin 5).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ano5b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2L Alliance Muscular dystrophy, limb-girdle, autosomal recessive 12 611307
gnathodiaphyseal dysplasia Alliance Gnathodiaphyseal dysplasia 166260
Miyoshi muscular dystrophy 3 Alliance Miyoshi muscular dystrophy 3 613319
Associated With ano5b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR032394 Anoctamin, dimerisation domain
Family IPR007632 Anoctamin
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations