ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within locomotory behavior; myofibril assembly; and skeletal muscle tissue development. Predicted to be located in several cellular components, including cytoskeleton; desmosome; and myofibril. Predicted to be active in several cellular components, including focal adhesion; hemidesmosome; and sarcolemma. 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
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| 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 |
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 |
| Domain | IPR041615 | Desmoplakin, SH3 domain |
| Family | IPR043197 | Plakin |
| Homologous_superfamily | IPR035915 | Plakin repeat superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR001101 | Plectin repeat |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
| Repeat | IPR049538 | Plectin-like, spectrin-like repeat |
Domain Details Per Protein
- Genome Browsers
| 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 | ||
| ncRNA |
plecb-003
(1)
|
Ensembl | 536 nt | ||
| ncRNA |
plecb-004
(1)
|
Ensembl | 546 nt | ||
| ncRNA |
plecb-005
(1)
|
Ensembl | 429 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers