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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 90134
Gene name Potassium voltage-gated channel subfamily H member 7
Gene symbol KCNH7
Synonyms (NCBI Gene)
ERG3HERG3Kv11.3
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 miRNA information provided by mirtarbase database.
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608169 18863 ENSG00000184611
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Voltage gated Potassium channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs6757850 RCV005935533
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs765007494 RCV004557747
KCNH7-related disorder Uncertain significance; Benign; Likely benign rs2468310322, rs1573892185, rs41268653, rs143881602, rs138092215, rs6757850, rs780739285, rs375210957, rs141527251, rs142697442, rs148927325 RCV003419042
RCV003402123
RCV003919662
RCV003914716
RCV003981358
RCV003973961
RCV003911470
RCV003961744
RCV003927046
RCV003954412
RCV003916112
Uterine corpus endometrial carcinoma Benign rs6757850 RCV005935532
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 24986916
Diabetes Mellitus Associate 27998387
Esophageal Squamous Cell Carcinoma Associate 28694483
Major Affective Disorder 1 Associate 24986916
Multiple Sclerosis Associate 19156166
Obesity Associate 27998387
Obesity Abdominal Associate 27998387
Polycystic Ovary Syndrome Associate 32574161
Psychotic Disorders Associate 20507645