KCNH5 (potassium voltage-gated channel subfamily H member 5)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27133
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily H member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNH5
Synonyms (NCBI Gene) Gene synonyms aliases
DEE112, EAG2, H-EAG2, Kv10.2, hEAG2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactiva
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs587777164 C>T Uncertain-significance, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(49)
miRTarBase ID miRNA Experiments Reference
MIRT442127 hsa-miR-5582-3p PAR-CLIP 22100165
MIRT442126 hsa-miR-4717-5p PAR-CLIP 22100165
MIRT442125 hsa-miR-15a-3p PAR-CLIP 22100165
MIRT442123 hsa-miR-1295b-3p PAR-CLIP 22100165
MIRT442124 hsa-miR-1323 PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IBA
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IMP 24133262
GO:0005251 Function Delayed rectifier potassium channel activity IDA 11943152, 12135768, 24133262, 36928654
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605716 6254 ENSG00000140015
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NCM2
Protein name Voltage-gated delayed rectifier potassium channel KCNH5 (Ether-a-go-go potassium channel 2) (hEAG2) (Potassium voltage-gated channel subfamily H member 5) (Voltage-gated potassium channel subunit Kv10.2)
Protein function Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate (PubMed:11943152, PubMed:1213576
PDB 7YID , 7YIE , 7YIF , 7YIG , 7YIH , 7YIJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13426 PAS_9 26 → 133 PAS domain Domain
PF00520 Ion_trans 214 → 479 Ion transport protein Family
PF00027 cNMP_binding 568 → 653 Cyclic nucleotide-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney.
Sequence 
MPGGKRGLVAPQNTFLENIVRRSSESSFLLGNAQIVDWPVVYSNDGFCKLSGYHRADVMQ
KSSTCSFMYGELTDKKTIEKVRQTFDNYESNCFEVLLYKKNRTPVWFYMQIAPIRNEHEK
VVLFLCTFKDITLFKQPIEDDSTKGWTKFARLTRALTNSRSVLQQLTPMNKTEVVHKHSR
LAEVLQLGSDILPQYKQEAPKTPPHIILHYCAFKTTWDWVILILTFYTAIMVPYNVSFKT
KQNNIAWLVLDSVVDVIFLVDIVLNFHTTFVGPGGEVISDPKLIRMNYLKTWFVIDLLSC
LPYDIINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYLEYGAAVLVLLVCVFGLVA
HWLACIWYSIGDYEVIDEVTNTIQIDSWLYQLALSIGTPYRYNTSAGIWEGGPSKDSLYV
SSLYFTMTSLTTIGFGNIAPTTDVEKMFSVAMMMVGSLLYATIFGNVTTIFQQMYANTNR
YHEMLNNVRDFLKLYQVPKGLSERVMDYIVSTWSMSKGIDTEKVLSICPKDMRADICVHL
NRKVFNEHPAFRLASDGCLRALAVEFQTIHCAPGDLIYHAGESVDALCFVVSGSLEVIQD
DEVVAILGKGDVFGDIFWKETTLAHACANVRALTYCDLHIIKREALLKVLDFYTAFANSF
SRNLTLTCNLRKRIIFRKISDVKKEEEERLRQKNEVTLSIPVDHPVRKLFQKFKQQKELR
NQGSTQGDPERNQLQVESRSLQNGASITGTSVVTVSQITPIQTSLAYVKTSESLKQNNRD
AMELKPNGGADQKCLKVNSPIRMKNGNGKGWLRLKNNMGAHEEKKEDWNNVTKAESMGLL
SEDPKSSDSENSVTKNPLRKTDSCDSGITKSDLRLDKAGEARSPLEHSPIQADAKHPFYP
IPEQALQTTLQEVKHELKEDIQLLSCRMTALEKQVAEILKILSEKSVPQASSPKSQMPLQ
VPPQIPCQDIFSVSRPESPESDKDEIHF
Sequence length 988
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Voltage gated Potassium channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy 112, Developmental and epileptic encephalopathy, 12 rs587777164 N/A
Epileptic Encephalopathy early infantile epileptic encephalopathy with suppression bursts rs587777164 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy infantile-onset epilepsy N/A N/A GenCC
Mental Depression Major depressive disorder N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19945765
Autism Spectrum Disorder Associate 36068614
Autistic Disorder Associate 24133262, 36068614
Brain Diseases Associate 24133262
Carcinoma Non Small Cell Lung Associate 18349282, 19945765
Death Associate 36307226
Epilepsies Partial Associate 36307226
Epilepsy Associate 24133262, 36068614, 36307226
Epileptic Encephalopathy Early Infantile 3 Associate 36307226
Heredodegenerative Disorders Nervous System Associate 24133262