KCNQ1 (Q14865150)

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protein-coding gene in the species Homo sapiens

ATFB1
ATFB3
JLNS1
KCNA8
KCNA9
KVLQT1
Kv1.9
Kv7.1
LQT
LQT1
RWS
SQT2
WRS
potassium voltage-gated channel subfamily Q member 1

Language	Label	Description	Also known as
English	KCNQ1	protein-coding gene in the species Homo sapiens	ATFB1 ATFB3 JLNS1 KCNA8 KCNA9 KVLQT1 Kv1.9 Kv7.1 LQT LQT1 RWS SQT2 WRS potassium voltage-gated channel subfamily Q member 1

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

3 October 2016

Protein CD44 PDB 1poz.png
535 × 431; 106 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

Potassium voltage-gated channel subfamily Q member 1

1 reference

16 March 2017

UniProt protein ID

genetic association

type 2 diabetes

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9352&ncbiId=3784

http://www.genome.gov/gwastudies/index.cfm?gene=KCNQ1

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

25 May 2020

familial atrial fibrillation

1 reference

UniProt protein ID

13 August 2019

long QT syndrome

3 references

28 December 2020

https://search.clinicalgenome.org/kb/gene-validity/--2020-12-15T00:32:48

11 January 2021

https://search.clinicalgenome.org/kb/gene-validity/dff8874e-98a1-472b-9cc2-3f441b1c1064--2018-09-25T04:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dff8874e-98a1-472b-9cc2-3f441b1c1064-2018-09-25T040000.000Z

Jervell-Lange Nielsen syndrome

2 references

18 April 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cb5cd32-6663-48bc-b8b0-3b9ca34e2cb7-2017-12-19T050000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000053918/MONDO_0002441

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/ENSG00000053918/Orphanet_101016

based on heuristic

inferred from an Open Targets association score over 0.7

short QT syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000053918/Orphanet_51083

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 11

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

2444684

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

2465914

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

2870339

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

2849105

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

cytogenetic location

11p15.5-p15.4

1 reference

15 May 2022

85014

1 reference

15 May 2022

Gene Atlas image

PBB GE CD44 204489 s at fs.png
732 × 530; 11 KB

0 references

PBB GE CD44 212063 at fs.png
732 × 530; 11 KB

0 references

PBB GE CD44 204490 s at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

85014

1 reference

HomoloGene build68

85014

Caenorhabditis elegans

1 reference

HomoloGene build68

85014

1 reference

HomoloGene build68

85014

body of pancreas

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

left lobe of thyroid gland

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

right lobe of thyroid gland

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

body of stomach

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000053918

http://identifiers.org/ncbigene/3784

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

Ensembl gene ID

ENSG00000282076

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENSG00000053918

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

Ensembl transcript ID

ENST00000155840

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000335475

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000345015

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000380776

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000496887

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000526095

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000632981

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000632153

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000633370

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

ENST00000646564

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000053918

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

9 July 2020

Microsoft Academic ID

0 references

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(4 entries)

bswiki KCNQ1
cywiki KCNQ1
enwiki KvLQT1
ukwiki KCNQ1

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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