KCNH7 (potassium voltage-gated channel subfamily H member 7)

Gene

• Entrez ID: 90134
• Gene name: Potassium voltage-gated channel subfamily H member 7
• Gene symbol: KCNH7
• Synonyms (NCBI Gene): ERG3, HERG3, Kv11.3
• Chromosome: 2
• Chromosome location: 2q24.2
• 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
MIRT1081115	hsa-miR-18a	CLIP-seq
MIRT1081116	hsa-miR-18b	CLIP-seq
MIRT1081117	hsa-miR-4735-3p	CLIP-seq
MIRT1081118	hsa-miR-548c-3p	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:0005242	Function	Inward rectifier potassium channel activity	IDA	32723862
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	IDA	32723862
GO:0006813	Process	Potassium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0020037	Function	Heme binding	IDA	32723862
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 608169
• HGNC: 18863
• e!Ensembl: ENSG00000184611

Protein

• UniProt ID: Q9NS40
• Protein name: Voltage-gated inwardly rectifying potassium channel KCNH7 (Ether-a-go-go-related gene potassium channel 3) (ERG-3) (Eag-related protein 3) (Ether-a-go-go-related protein 3) (hERG-3) (Potassium voltage-gated channel subfamily H member 7) (Voltage-gated pot
• Protein function: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel (PubMed:32723862). Exhibits faster activation and deactivation kinetics and slow inactivation at membrane potentials positive to 240 mV, resulting in the weakest
• PDB: 6Y7Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13426	PAS_9	29 → 134	PAS domain	Domain
  PF00520	Ion_trans	407 → 674	Ion transport protein	Family
  PF00027	cNMP_binding	763 → 848	Cyclic nucleotide-binding domain	Domain

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

  MPVRRGHVAPQNTFLGTIIRKFEGQNKKFIIANARVQNCAIIYCNDGFCEMTGFSRPDVM
  QKPCTCDFLHGPETKRHDIAQIAQALLGSEERKVEVTYYHKNGSTFICNTHIIPVKNQEG
  VAMMFIINFEYVTDNENAATPERVNPILPIKTVNRKFFGFKFPGLRVLTYRKQSLPQEDP
  DVVVIDSSKHSDDSVAMKHFKSPTKESCSPSEADDTKALIQPSKCSPLVNISGPLDHSSP
  KRQWDRLYPDMLQSSSQLSHSRSRESLCSIRRASSVHDIEGFGVHPKNIFRDRHASEDNG
  RNVKGPFNHIKSSLLGSTSDSNLNKYSTINKIPQLTLNFSEVKTEKKNSSPPSSDKTIIA
  PKVKDRTHNVTEKVTQVLSLGADVLPEYKLQTPRINKFTILHYSPFKAVWDWLILLLVIY
  TAIFTPYSAAFLLNDREEQKRRECGYSCSPLNVVDLIVDIMFIIDILINFRTTYVNQNEE
  VVSDPAKIAIHYFKGWFLIDMVAAIPFDLLIFGSGSDETTTLIGLLKTARLLRLVRVARK
  LDRYSEYGAAVLMLLMCIFALIAHWLACIWYAIGNVERPYLTDKIGWLDSLGQQIGKRYN
  DSDSSSGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFG
  NVSAIIQRLYSGTARYHMQMLRVKEFIRFHQIPNPLRQRLEEYFQHAWTYTNGIDMNMVL
  KGFPECLQADICLHLNQTLLQNCKAFRGASKGCLRALAMKFKTTHAPPGDTLVHCGDVLT
  ALYFLSRGSIEILKDDIVVAILGKNDIFGEMVHLYAKPGKSNADVRALTYCDLHKIQRED
  LLEVLDMYPEFSDHFLTNLELTFNLRHESAKADLLRSQSMNDSEGDNCKLRRRKLSFESE
  GEKENSTNDPEDSADTIRHYQSSKRHFEEKKSRSSSFISSIDDEQKPLFSGIVDSSPGIG
  KASGLDFEETVPTSGRMHIDKRSHSCKDITDMRSWERENAHPQPEDSSPSALQRAAWGIS
  ETESDLTYGEVEQRLDLLQEQLNRLESQMTTDIQTILQLLQKQTTVVPPAYSMVTAGSEY
  QRPIIQLMRTSQPEASIKTDRSFSPSSQCPEFLDLEKSKLKSKESLSSGVHLNTASEDNL
  TSLLKQDSDLSLELHLRQRKTYVHPIRHPSLPDSSLSTVGIVGLHRHVSDPGLPGK

• Sequence length: 1196

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
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNH7-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ 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
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18285833		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24986916	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31659098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	27998387	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GWASCAT_DG	26305897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	30016551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30016551		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28694483	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	31659098		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18285833, 19156166		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18285833		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19156166	Associate	★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	20507645		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27998387	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	27998387	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32574161	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	20953190, 23143594, 25574825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	20953190, 23143594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	20507645		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	20507645	Associate	★☆☆☆☆ Found in Text Mining only