(Q14914307)

English

KCNQ2

protein-coding gene in the species Homo sapiens

BFNC
BFNS1
EBN
EBN1
EIEE7
ENB1
HNSPC
KCNA11
KV7.2
KVEBN1
potassium voltage-gated channel subfamily Q member 2
DEE7

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Statements

1 reference

1 reference

NCBI homo sapiens annotation release 107

3 October 2016

Kcnq2.png
2,100 × 2,100; 1.08 MB

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Potassium voltage-gated channel subfamily Q member 2

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16 March 2017

Potassium voltage-gated channel subfamily KQT member 2

1 reference

1 August 2016

language of work or name

English

genetic association

undetermined early-onset epileptic encephalopathy

2 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/0063ff66-c988-4635-a309-2af473917898--2018-06-14T14:54:01

26 July 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0063ff66-c988-4635-a309-2af473917898-2018-06-14T145401.804Z

benign neonatal seizures

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000075043/Orphanet_1949

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 20

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

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genome assembly GRCh38

Genome assembly GRCh37

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62037542

Genome assembly GRCh37

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63400208

genome assembly GRCh38

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63472677

genome assembly GRCh38

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62103993

Genome assembly GRCh37

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20q13.33

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15 May 2022

26174

1 reference

15 May 2022

PBB GE KCNQ2 211486 s at fs.png
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PBB GE KCNQ2 210508 s at fs.png
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PBB GE KCNQ2 205737 at fs.png
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26174

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26174

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26174

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

amygdala

series ordinal

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

nucleus accumbens

series ordinal

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

dorsolateral prefrontal cortex

series ordinal

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

superior frontal gyrus

series ordinal

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

caudate nucleus

series ordinal

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

Brodmann area 9

series ordinal

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

cingulate gyrus

series ordinal

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

hippocampus proper

series ordinal

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

middle temporal gyrus

series ordinal

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000075043

exact match

http://identifiers.org/ncbigene/3785

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

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15 May 2022

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15 May 2022

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Ensembl transcript ID

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15 May 2022

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9 July 2020

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Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(3 entries)

bswiki KCNQ2
enwiki KvLQT2
ukwiki KCNQ2

(Q14914307)

KCNQ2

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Wikipedia(3 entries)

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