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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

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 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

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
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

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 InterPro	4519
UniProtKB:A0A8M9PDE5 InterPro	4483
UniProtKB:A0A8M9NZI8 InterPro	4499
UniProtKB:A0A8M9PDD2 InterPro	5897
UniProtKB:A0A8M9P867 InterPro	4507
UniProtKB:A0A8M3AQA0 InterPro	5880
UniProtKB:A0A8M9NZK0 InterPro	4508
UniProtKB:A0A8M9P862 InterPro	4524
UniProtKB:A0A8M9PMU3 InterPro	4534
UniProtKB:A0A8M9PDE9 InterPro	4537
UniProtKB:A0A8M9PMS6 InterPro	5896
UniProtKB:A0A8M9PJV9 InterPro	4513
UniProtKB:A0A8M9NZJ2 InterPro	4547
UniProtKB:A0A8M9PMU8 InterPro	4517
UniProtKB:E9QCV2 InterPro	4530
UniProtKB:A0A8M9P859 InterPro	4541
UniProtKB:A0A8M9PJT1 InterPro	5904
UniProtKB:A0A8M9PJU1 InterPro	4783
UniProtKB:A0A8M9NZI6 InterPro	5891
UniProtKB:A0A8M9PDD8 InterPro	5885
UniProtKB:A0A8M9P854 InterPro	4494
UniProtKB:A0A8M9PDF9 InterPro	4503
UniProtKB:A0A0R4IJ71 InterPro	4506
UniProtKB:A0A8M9NZI2 InterPro	5903
UniProtKB:A0A8M9PJT6 InterPro	5892
UniProtKB:A0A8M9P848 InterPro	5901
UniProtKB:A0A8M9PDC8 InterPro	5908
UniProtKB:A0A8M9PMT8 InterPro	4558
UniProtKB:A0A8M9NZJ5 InterPro	4529
UniProtKB:A0A8M9PMT2 InterPro	4790
UniProtKB:A0A8M9PJU6 InterPro	4553
UniProtKB:A0A8M9P852 InterPro	5887

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	plecb-201 (1) Ensembl	Ensembl	13,536 nt	Select Tool ZFIN BLAST
mRNA	plecb-205 (1) Ensembl	Ensembl	15,557 nt	Select Tool
mRNA	plecb-207 (1) Ensembl	Ensembl	13,521 nt	Select Tool ZFIN BLAST
mRNA	plecb-208 (1) Ensembl	Ensembl	13,677 nt	Select Tool ZFIN BLAST
ncRNA	plecb-002 (1) Ensembl	Ensembl	698 nt	Select Tool
ncRNA	plecb-003 (1) Ensembl	Ensembl	536 nt	Select Tool
ncRNA	plecb-004 (1) Ensembl	Ensembl	546 nt	Select Tool
ncRNA	plecb-005 (1) Ensembl	Ensembl	429 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations