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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 27133
Gene name Potassium voltage-gated channel subfamily H member 5
Gene symbol KCNH5
Synonyms (NCBI Gene)
DEE112EAG2H-EAG2Kv10.2hEAG2
Chromosome 14
Chromosome location 14q23.2
Summary 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.
1
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.
49
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605716 6254 ENSG00000140015
Protein Protein information from UniProt database.
Gene SNPs 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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
674
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy Pathogenic; Likely pathogenic rs1383017734, rs587777164, rs1164997707 RCV001346092
RCV000701370
RCV001977026
RCV003754501
Developmental and epileptic encephalopathy 112 Pathogenic; Likely pathogenic rs1383017734, rs587777164, rs2502867311 RCV004762112
RCV003448263
RCV003334451
Developmental and epileptic encephalopathy, 12 Pathogenic rs1383017734, rs587777164, rs2502654819, rs1294653855, rs2502867213 RCV003339604
RCV003334350
RCV003334361
RCV003334363
RCV003334364
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
KCNH5-related disorder Benign; Likely benign; Uncertain significance rs752865520, rs1884491164, rs146883958, rs114074278, rs36004050, rs79489451, rs376391048, rs372290413 RCV003900773
RCV004757615
RCV003960099
RCV003972794
RCV003972795
RCV003915311
RCV004757243
RCV004757295
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease 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