KCNH2 (Q14865830)

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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

Language	Label	Description	Also known as
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

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

1 reference

HomoloGene build68

201

1 reference

HomoloGene build68

201

1 reference

HomoloGene build68

201

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

pituitary gland

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

anterior pituitary

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

endothelial cell

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

left uterine tube

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

nucleus accumbens

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000055118

caudate nucleus

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/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

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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