PLEC (plectin)

2010-02-01  

Identity

HGNC
PLEC
LOCATION
8q24.3
LOCUSID
5339
ALIAS
EBS1,EBSMD,EBSND,EBSO,EBSOG,EBSPA,HD1,LGMD2Q,LGMDR17,PCN,PLEC1,PLEC1b,PLTN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5339
MIM: 601282
HGNC: 9069
Ensembl: ENSG00000178209

Variants:

dbSNP: 5339
ClinVar: 5339
TCGA: ENSG00000178209
COSMIC: PLEC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178209ENST00000322810Q15149
ENSG00000178209ENST00000345136Q15149
ENSG00000178209ENST00000354589Q15149
ENSG00000178209ENST00000354958Q15149
ENSG00000178209ENST00000356346Q15149
ENSG00000178209ENST00000357649Q15149
ENSG00000178209ENST00000398774Q15149
ENSG00000178209ENST00000436759Q15149
ENSG00000178209ENST00000526416E9PKG0
ENSG00000178209ENST00000527096Q15149
ENSG00000178209ENST00000527303H0YDN1
ENSG00000178209ENST00000527816E9PQ28
ENSG00000178209ENST00000528025E9PMV1
ENSG00000178209ENST00000528131E9PIA2

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Type I hemidesmosome assemblyREACTOMER-HSA-446107
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Caspase-mediated cleavage of cytoskeletal proteinsREACTOMER-HSA-264870

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
377166462024Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.0
382478532024Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.0
383225342024[Plectin Promotes the Migration of Hepatocellular Carcinoma Cells Through Inducing F-actin Polymerization].0
377166462024Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.0
382478532024Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.0
383225342024[Plectin Promotes the Migration of Hepatocellular Carcinoma Cells Through Inducing F-actin Polymerization].0
371746582023Z-Disk-Associated Plectin (Isoform 1d): Spatial Arrangement, Interaction Partners, and Role in Filamin C Homeostasis.2
372621822023The Versatility of Plectin in Cancer: A Pan-Cancer Analysis on Potential Diagnostic and Prognostic Impacts of Plectin Isoforms.0
373486512023Anterior blepharitis is associated with elevated plectin levels consistent with a pronounced intracellular response.2
373937352023Novel biallelic variants in the PLEC gene are associated with severe hearing loss.1
376326502023Role of plectin and its interacting molecules in cancer.0
371746582023Z-Disk-Associated Plectin (Isoform 1d): Spatial Arrangement, Interaction Partners, and Role in Filamin C Homeostasis.2
372621822023The Versatility of Plectin in Cancer: A Pan-Cancer Analysis on Potential Diagnostic and Prognostic Impacts of Plectin Isoforms.0
373486512023Anterior blepharitis is associated with elevated plectin levels consistent with a pronounced intracellular response.2
373937352023Novel biallelic variants in the PLEC gene are associated with severe hearing loss.1

Citation

Dessen P

PLEC (plectin)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51349/plec-(plectin)