Gene: KCNH2 ENSG00000055118

Description

potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:HGNC Symbol;Acc:6251]

Gene Synonyms

ERG, ERG1, HERG, HERG1, Kv11.1, LQT2, SQT1, erg1

Location

Chromosome 7: 150,642,049-150,675,403 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 7 transcripts (splice variants), 17 paralogues and is associated with 6 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000262186.5	KCNH2-001	4286	1159aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5910	Q12809 Q45QN5 Q6U279 Q6U283 Q6U287 Q75MK8 Q75MK9	NM_000238.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000392968.2	KCNH2-201	4717	1063aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q12809 Q6U279 Q6U283 Q6U287	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000330883.4	KCNH2-004	3267	819aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5911	Q12809 Q45QN4 Q6U279 Q6U283 Q6U287	NM_172057.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000430723.3	KCNH2-202	3145	888aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47747	Q12809 Q45QN5 Q6U279 Q6U283 Q6U287 Q75MK8 Q75MK9	NM_172056.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000532957.1	KCNH2-002	3374	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000473610.1	KCNH2-005	2782	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000461280.1	KCNH2-008	2430	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

KCNH2 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q12809

CCDS

This gene is a member of the Human CCDS set: CCDS47747.1, CCDS5910.1, CCDS5911.1

LRG

LRG_288 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000055118.10

Other assemblies

This gene maps to 150,944,961-150,978,315 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000158341 (version 3)

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Gene: KCNH2 ENSG00000055118

Summary