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
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Bührdel et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ct110bGtTransgenic insertionUnknownUnknownDNA
la027789TgTransgenic insertionUnknownUnknownDNA
sa12243Allele with one point mutationUnknownSplice SiteENU
sa14270Allele with one point mutationUnknownPremature StopENU
sa14343Allele with one point mutationUnknownPremature StopENU
sa15190Allele with one point mutationUnknownPremature StopENU
sa16747Allele with one point mutationUnknownPremature StopENU
sa28576Allele with one point mutationUnknownPremature StopENU
sa36029Allele with one point mutationUnknownPremature StopENU
sa36030Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-plecbGiera et al., 2018
MO1-plecbN/A (2)
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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 5A, Ogna type 131950
epidermolysis bullosa simplex with muscular dystrophy Alliance Epidermolysis bullosa simplex 5B, with muscular dystrophy 226670
Epidermolysis bullosa simplex 5C, with pyloric atresia 612138
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive 616487
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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 IPR005326 Plectin/eS10, N-terminal
Domain IPR041573 Desmoplakin, spectrin-like domain
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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/eS10, N-terminal Plectin-like, spectrin-like repeat Plectin repeat SH3 domain Spectrin/alpha-actinin Spectrin repeat Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A8M9PDF4 4519
UniProtKB:A0A8M9PDE5 4483
UniProtKB:A0A8M9NZI8 4499
UniProtKB:A0A8M9PDD2 5897
UniProtKB:A0A8M9P867 4507
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 16
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA plecb-201 (1) Ensembl 13,536 nt
mRNA plecb-205 (1) Ensembl 15,557 nt
mRNA plecb-207 (1) Ensembl 13,521 nt
mRNA plecb-208 (1) Ensembl 13,677 nt
ncRNA plecb-002 (1) Ensembl 698 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-24C14ZFIN Curated Data
Contained inBACCH211-151O1ZFIN Curated Data
Contained inBACDKEY-283B15ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPLEC8
Amino acid sequence comparison (2)
MousePlec15
Amino acid sequence comparison (1)
Citations
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