Gene

plecb

ID
ZDB-GENE-100917-2
Name
plectin b
Symbol
plecb Nomenclature History
Previous Names
  • si:ch211-24c14.1 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Predicted to have ankyrin binding activity and structural molecule activity. Involved in locomotory behavior; myofibril assembly; and skeletal muscle tissue development. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin).
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
3 figures from B├╝hrdel et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With plecb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2Q Alliance Muscular dystrophy, limb-girdle, autosomal recessive 17 613723
epidermolysis bullosa simplex Ogna type Alliance Epidermolysis bullosa simplex, Ogna type 131950
epidermolysis bullosa simplex with muscular dystrophy Alliance Epidermolysis bullosa simplex with muscular dystrophy 226670
Epidermolysis bullosa simplex with pyloric atresia 612138
?Epidermolysis bullosa simplex with nail dystrophy 616487
Associated With plecb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
Domain IPR001452 SH3 domain
Domain IPR001715 Calponin homology domain
Domain IPR041573 Desmoplakin, spectrin-like domain
Domain IPR041615 Desmoplakin, SH3 domain
Family IPR043197 Plakin
Homologous_superfamily IPR035915 Plakin repeat superfamily
Homologous_superfamily IPR036872 CH domain superfamily
Repeat IPR001101 Plectin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Domain Details Per Protein
Protein Length Actinin-type actin-binding domain, conserved site Calponin homology domain CH domain superfamily Desmoplakin, SH3 domain Desmoplakin, spectrin-like domain Plakin Plakin repeat superfamily Plectin repeat SH3 domain Spectrin/alpha-actinin
UniProtKB:A0A0R4IJ71 4506
UniProtKB:E9QCV2 4530
UniProtKB:E7F4T0 4511
UniProtKB:A0A2R8QR17 4535
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