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(Q14865830)

English

KCNH2

protein-coding gene in the species Homo sapiens

ERG-1
ERG1
H-ERG
HERG
HERG1
Kv11.1
LQT2
SQT1
potassium voltage-gated channel subfamily H member 2

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000055118

PBB Protein KCNH2 image.jpg
500 × 500; 30 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

Potassium voltage-gated channel subfamily H member 2

1 reference

6 July 2017

UniProt protein ID

genetic association

short QT syndrome

3 references

UniProt protein ID

13 August 2019

19 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b033c3f-04de-4806-a9f3-0b318082b32e-2020-08-03T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000055118/Orphanet_51083

based on heuristic

inferred from an Open Targets association score over 0.7

long QT syndrome

3 references

28 December 2020

https://search.clinicalgenome.org/kb/gene-validity/--2020-12-15T00:33:32

11 January 2021

https://search.clinicalgenome.org/kb/gene-validity/462eeb4e-357d-4c3d-89f0-e386ac0d011b--2018-09-25T04:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_462eeb4e-357d-4c3d-89f0-e386ac0d011b-2018-09-25T040000.000Z

atrial fibrillation

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000055118/EFO_0000275

based on heuristic

inferred from an Open Targets association score over 0.7

heart arrhythmia

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000055118/EFO_0004269

based on heuristic

inferred from an Open Targets association score over 0.7

Romano–Ward syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000055118/Orphanet_101016

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 7

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

150944961

human chromosome 7

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

150642049

human chromosome 7

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

150675403

human chromosome 7

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

150978321

human chromosome 7

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

cytogenetic location

7q36.1

1 reference

15 May 2022

201

1 reference

15 May 2022

Gene Atlas image

PBB GE KCNH2 205262 at fs.png
732 × 530; 11 KB

0 references

PBB GE KCNH2 gnf1h06648 at fs.png
732 × 530; 12 KB

0 references

PBB GE KCNH2 210036 s at fs.png
732 × 530; 11 KB

0 references

2 references

HomoloGene build68

201

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q12809/

2 references

HomoloGene build68

201

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q12809/

1 reference

HomoloGene build68

201

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

muscle layer of sigmoid colon

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

right hemisphere of cerebellum

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

pituitary gland

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

myocardium of left ventricle

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

anterior pituitary

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000055118

http://identifiers.org/ncbigene/3757

1 reference

Identifiers.org

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

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000055118

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

Ensembl transcript ID

ENST00000532957

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000262186

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000330883

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000461280

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000473610

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000684116

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000683359

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

ENST00000684241

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000055118

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 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

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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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