KCNH2 (GeneID: 3757) | Homo sapiens
Description: potassium voltage-gated channel subfamily H member 2 [Source:HGNC Symbol;Acc:HGNC:6251]
Synonyms: QT2, HERG, ERG-1, Kv11.1, H-ERG, SQT1, HERG1, ERG1
Other ID(s): ENSG00000055118, HGNC:6251
Protein Accession Numbers: ENST00000430723, ENST00000262186.5, NP_001191727, ENST00000392968, ENST00000262186, NP_742054, NP_000229, ENST00000330883, NP_742053
Statistics: ClinVar(627) PTM(22)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000262186 ENST00000330883 ENST00000392968 ENST00000430723 NP_000229 NP_001191727 You are here now! NP_742053 NP_742054


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00027 cNMP_binding Cyclic nucleotide-binding domain 760-845 CL0029 Cupin Homo sapiens
PF00520 Ion_trans Ion transport protein 407-671 CL0030 Ion_channel Homo sapiens
PF13426 PAS_9 PAS domain 29-132 CL0183 PAS_Fold Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cardiac Arrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Malignant Neoplasms Neoplasms ; 0.543 0.586
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.543 0.586
Neoplastic Cell Transformation Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.543 0.586
Long QT Syndrome Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Muscular Atrophy Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Neoplasms Neoplasms ; 0.543 0.586
Psychotic Disorders Mental Disorders ; 0.543 0.586
Romano-Ward Syndrome Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Schizophrenia Mental Disorders ; 0.543 0.586
Torsades de Pointes Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Benign Neoplasm Neoplasms ; 0.543 0.586
Neurogenic Muscular Atrophy Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Nonorganic psychosis N/A 0.543 0.586
Brugada Syndrome (disorder) Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.586
Short QT Syndrome 1 Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
Long Qt Syndrome 2 Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.543 0.586
LONG QT SYNDROME 2/3, DIGENIC N/A 0.543 0.586
LONG QT SYNDROME 1/2, DIGENIC (disorder) N/A 0.543 0.586
LONG QT SYNDROME 2/5, DIGENIC (disorder) N/A 0.543 0.586
LONG QT SYNDROME 2/9, DIGENIC N/A 0.543 0.586
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO N/A 0.543 0.586
NO RESULT FOUND
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