KCNH6 (potassium voltage-gated channel subfamily H member 6)

Gene

• Entrez ID: 81033
• Gene name: Potassium voltage-gated channel subfamily H member 6
• Gene symbol: KCNH6
• Synonyms (NCBI Gene): ERG-2, ERG2, HERG2, Kv11.2, hERG-2
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT657050	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT657051	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT657049	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT657048	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT657047	hsa-miR-1976	HITS-CLIP	23824327
MIRT657046	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT657045	hsa-miR-1206	HITS-CLIP	23824327
MIRT657044	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT657043	hsa-miR-4279	HITS-CLIP	23824327
MIRT657050	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT657051	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT657049	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT657048	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT657047	hsa-miR-1976	HITS-CLIP	23824327
MIRT657046	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT657045	hsa-miR-1206	HITS-CLIP	23824327
MIRT657044	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT657043	hsa-miR-4279	HITS-CLIP	23824327
MIRT1081084	hsa-miR-1200	CLIP-seq
MIRT1081085	hsa-miR-1273f	CLIP-seq
MIRT1081086	hsa-miR-1289	CLIP-seq
MIRT1081087	hsa-miR-1297	CLIP-seq
MIRT1081088	hsa-miR-1307	CLIP-seq
MIRT1081089	hsa-miR-143	CLIP-seq
MIRT1081090	hsa-miR-26a	CLIP-seq
MIRT1081091	hsa-miR-26b	CLIP-seq
MIRT1081092	hsa-miR-2909	CLIP-seq
MIRT1081093	hsa-miR-296-3p	CLIP-seq
MIRT1081094	hsa-miR-3157-5p	CLIP-seq
MIRT1081095	hsa-miR-3198	CLIP-seq
MIRT1081096	hsa-miR-3664-5p	CLIP-seq
MIRT1081097	hsa-miR-3977	CLIP-seq
MIRT1081098	hsa-miR-4258	CLIP-seq
MIRT1081099	hsa-miR-4284	CLIP-seq
MIRT1081100	hsa-miR-4294	CLIP-seq
MIRT1081101	hsa-miR-4309	CLIP-seq
MIRT1081102	hsa-miR-4324	CLIP-seq
MIRT1081103	hsa-miR-4438	CLIP-seq
MIRT1081104	hsa-miR-4465	CLIP-seq
MIRT1081105	hsa-miR-4509	CLIP-seq
MIRT1081106	hsa-miR-4534	CLIP-seq
MIRT1081107	hsa-miR-4638-5p	CLIP-seq
MIRT1081108	hsa-miR-4639-3p	CLIP-seq
MIRT1081109	hsa-miR-4707-3p	CLIP-seq
MIRT1081110	hsa-miR-4708-5p	CLIP-seq
MIRT1081111	hsa-miR-4770	CLIP-seq
MIRT1081112	hsa-miR-4772-3p	CLIP-seq
MIRT1081113	hsa-miR-5095	CLIP-seq
MIRT1081114	hsa-miR-544b	CLIP-seq
MIRT1081098	hsa-miR-4258	CLIP-seq
MIRT1081103	hsa-miR-4438	CLIP-seq
MIRT1081109	hsa-miR-4707-3p	CLIP-seq
MIRT1081113	hsa-miR-5095	CLIP-seq
MIRT2251908	hsa-miR-130a	CLIP-seq
MIRT2251909	hsa-miR-130b	CLIP-seq
MIRT2251910	hsa-miR-301a	CLIP-seq
MIRT2251911	hsa-miR-301b	CLIP-seq
MIRT2251912	hsa-miR-3666	CLIP-seq
MIRT1081098	hsa-miR-4258	CLIP-seq
MIRT2251913	hsa-miR-4295	CLIP-seq
MIRT1081103	hsa-miR-4438	CLIP-seq
MIRT2251914	hsa-miR-454	CLIP-seq
MIRT2251915	hsa-miR-4671-3p	CLIP-seq
MIRT1081109	hsa-miR-4707-3p	CLIP-seq
MIRT1081113	hsa-miR-5095	CLIP-seq
MIRT1081096	hsa-miR-3664-5p	CLIP-seq
MIRT1081098	hsa-miR-4258	CLIP-seq
MIRT1081100	hsa-miR-4294	CLIP-seq
MIRT1081105	hsa-miR-4509	CLIP-seq
MIRT1081108	hsa-miR-4639-3p	CLIP-seq
MIRT2452182	hsa-miR-4675	CLIP-seq
MIRT1081109	hsa-miR-4707-3p	CLIP-seq
MIRT2452183	hsa-miR-4741	CLIP-seq
MIRT1081098	hsa-miR-4258	CLIP-seq
MIRT1081103	hsa-miR-4438	CLIP-seq
MIRT1081105	hsa-miR-4509	CLIP-seq
MIRT1081109	hsa-miR-4707-3p	CLIP-seq
MIRT1081113	hsa-miR-5095	CLIP-seq
MIRT1081098	hsa-miR-4258	CLIP-seq
MIRT1081103	hsa-miR-4438	CLIP-seq
MIRT1081105	hsa-miR-4509	CLIP-seq
MIRT1081109	hsa-miR-4707-3p	CLIP-seq
MIRT1081113	hsa-miR-5095	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA

Other IDs

• MIM: 608168
• HGNC: 18862
• e!Ensembl: ENSG00000173826

Protein

• UniProt ID: Q9H252
• Protein name: Voltage-gated inwardly rectifying potassium channel KCNH6 (Ether-a-go-go-related gene potassium channel 2) (ERG-2) (Eag-related protein 2) (Ether-a-go-go-related protein 2) (hERG-2) (hERG2) (Potassium voltage-gated channel subfamily H member 6) (Voltage-g
• Protein function: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Characterized by unusual gating kinetics by producing relatively small outward currents during membrane depolarization and large inward currents during subseque
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13426	PAS_9	29 → 134	PAS domain	Domain
  PF00520	Ion_trans	256 → 523	Ion transport protein	Family
  PF00027	cNMP_binding	612 → 697	Cyclic nucleotide-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in prolactin-secreting adenomas. {ECO:0000269|PubMed:12634931}.
• Sequence:

  MPVRRGHVAPQNTYLDTIIRKFEGQSRKFLIANAQMENCAIIYCNDGFCELFGYSRVEVM
  QQPCTCDFLTGPNTPSSAVSRLAQALLGAEECKVDILYYRKDASSFRCLVDVVPVKNEDG
  AVIMFILNFEDLAQLLAKCSSRSLSQRLLSQSFLGSEGSHGRPGGPGPGTGRGKYRTISQ
  IPQFTLNFVEFNLEKHRSSSTTEIEIIAPHKVVERTQNVTEKVTQVLSLGADVLPEYKLQ
  APRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLSDQDESRRGACSYTCSPL
  TVVDLIVDIMFVVDIVINFRTTYVNTNDEVVSHPRRIAVHYFKGWFLIDMVAAIPFDLLI
  FRTGSDETTTLIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWY
  AIGNVERPYLEHKIGWLDSLGVQLGKRYNGSDPASGPSVQDKYVTALYFTFSSLTSVGFG
  NVSPNTNSEKVFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVKEFIRFHQ
  IPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLHRALLQHCPAFSGAGK
  GCLRALAVKFKTTHAPPGDTLVHLGDVLSTLYFISRGSIEILRDDVVVAILGKNDIFGEP
  VSLHAQPGKSSADVRALTYCDLHKIQRADLLEVLDMYPAFAESFWSKLEVTFNLRDAAGG
  LHSSPRQAPGSQDHQGFFLSDNQSGSPHELGPQFPSKGYSLLGPGSQNSMGAGPCAPGHP
  DAAPPLSISDASGLWPELLQEMPPRHSPQSPQEDPDCWPLKLGSRLEQLQAQMNRLESRV
  SSDLSRILQLLQKPMPQGHASYILEAPASNDLALVPIASETTSPGPRLPQGFLPPAQTPS
  YGDLDDCSPKHRNSSPRMPHLAVATDKTLAPSSEQEQPEGLWPPLASPLHPLEVQGLICG
  PCFSSLPEHLGSVPKQLDFQRHGSDPGFAGSWGH

• Sequence length: 994

Pathways

Reactome:

Voltage gated Potassium channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	LHGDN	12634931		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	23869231	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30590050		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30590050		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	15202000		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30590050		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30590050		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	30590050		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	30590050		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	25783051		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	20507645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	20507645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	23329517		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23329517	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	20507645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	20507645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	20507645	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20507645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations