(Q14877658)

English

PLEC

protein-coding gene in the species Homo sapiens

EBS1
EBSMD
EBSND
EBSO
EBSOG
EBSPA
HD1
LGMD2Q
PCN
PLEC1
PLEC1b
PLTN
plectin
LGMDR17
EBS5D
EBS5C
EBS5B
EBS5A

In more languages

Statements

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

2 October 2016

Protein PLEC1 PDB 1mb8.png
952 × 752; 349 KB

Structure de la protéine PLEC1. Basé sur l'identifiant PDB 1mb8. (French)

0 references

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

21 March 2016

language of work or name

genetic association

epidermolysis bullosa simplex of Ogna

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000178209/Orphanet_79401

based on heuristic

inferred from an Open Targets association score over 0.7

autosomal recessive limb-girdle muscular dystrophy type 2Q

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000178209/MONDO_0013390

based on heuristic

inferred from an Open Targets association score over 0.7

epidermolysis bullosa simplex with pyloric atresia

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000178209/MONDO_0012807

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000178209/Orphanet_158684

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 8

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

144989321

human chromosome 8

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

143915153

human chromosome 8

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

143976734

human chromosome 8

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

145050902

human chromosome 8

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

cytogenetic location

8q24.3

1 reference

9 January 2022

384

1 reference

9 January 2022

1 reference

HomoloGene build68

384

1 reference

HomoloGene build68

384

1 reference

HomoloGene build68

384

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

gastrocnemius muscle

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

stromal cell of endometrium

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

right coronary artery

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

triceps brachii muscle

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

ascending aorta

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

popliteal artery

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000178209

http://identifiers.org/ncbigene/5339

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

Ensembl gene ID

ENSG00000178209

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

Ensembl transcript ID

ENST00000532346

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000322810

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000345136

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000354589

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000354958

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000356346

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000357649

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000398774

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000436759

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000527096

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000527303

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000528025

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000685198

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000687971

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

ENST00000693060

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000178209

HGNC gene symbol

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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