KCNH8 (potassium voltage-gated channel subfamily H member 8)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 131096
Gene name Potassium voltage-gated channel subfamily H member 8
Gene symbol KCNH8
Synonyms (NCBI Gene)
ELKELK1Kv12.1elk3hElk-1
Chromosome 3
Chromosome location 3p24.3
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.
35
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
miRTarBase ID miRNA Experiments Reference
MIRT019154 hsa-miR-335-5p Microarray 18185580
MIRT1081119 hsa-miR-4760-5p CLIP-seq
MIRT2020101 hsa-miR-221 CLIP-seq
MIRT2020102 hsa-miR-222 CLIP-seq
MIRT2020103 hsa-miR-3120-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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:0005249 Function Voltage-gated potassium channel activity IBA
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005251 Function Delayed rectifier potassium channel activity IDA 11897058
GO:0005251 Function Delayed rectifier 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
608260 18864 ENSG00000183960
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.
Q96L42
Protein name Voltage-gated delayed rectifier potassium channel KCNH8 (ELK1) (hElk-1) (Ether-a-go-go-like potassium channel 3) (ELK channel 3) (ELK3) (Potassium voltage-gated channel subfamily H member 8) (Voltage-gated potassium channel subunit Kv12.1)
Protein function Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents (PubMed:11897058). Elicits a slowly activating, non-inactivating and slowly deactivation outwards potassium c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13426 PAS_9 29 → 135 PAS domain Domain
PF00520 Ion_trans 221 → 481 Ion transport protein Family
PF00027 cNMP_binding 570 → 654 Cyclic nucleotide-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Primarily expressed in the nervous system. {ECO:0000269|PubMed:12890647}.
Sequence 
MPVMKGLLAPQNTFLDTIATRFDGTHSNFILANAQVAKGFPIVYCSDGFCELAGFARTEV
MQKSCSCKFLFGVETNEQLMLQIEKSLEEKTEFKGEIMFYKKNGSPFWCLLDIVPIKNEK
GDVVLFLASFKDITDTKVKITPEDKKEDKVKGRSRAGTHFDSARRRSRAVLYHISGHLQR
REKNKLKINNNVFVDKPAFPEYKVSDAKKSKFILLHFSTFKAGWDWLILLATFYVAVTVP
YNVCFIGNDDLSTTRSTTVSDIAVEILFIIDIILNFRTTYVSKSGQVIFEARSICIHYVT
TWFIIDLIAALPFDLLYAFNVTVVSLVHLLKTVRLLRLLRLLQKLDRYSQHSTIVLTLLM
SMFALLAHWMACIWYVIGKMEREDNSLLKWEVGWLHELGKRLESPYYGNNTLGGPSIRSA
YIAALYFTLSSLTSVGFGNVSANTDAEKIFSICTMLIGALMHALVFGNVTAIIQRMYSRW
SLYHTRTKDLKDFIRVHHLPQQLKQRMLEYFQTTWSVNNGIDSNELLKDFPDELRSDITM
HLNKEILQLSLFECASRGCLRSLSLHIKTSFCAPGEYLLRQGDALQAIYFVCSGSMEVLK
DSMVLAILGKGDLIGANLSIKDQVIKTNADVKALTYCDLQCIILKGLFEVLDLYPEYAHK
FVEDIQHDLTYNLREGHESDVISRLSNKSMVSQSEPKGNGNINKRLPSIVEDEEEEEEGE
EEEAVSLSPICTRGSSSRNKKVGSNKAYLGLSLKQLASGTVPFHSPIRVSRSNSPKTKQE
IDPPNHNKRKEKNLKLQLSTLNNAGPPDLSPRIVDGIEDGNSSEESQTFDFGSERIRSEP
RISPPLGDPEIGAAVLFIKAEETKQQINKLNSEVTTLTQEVSQLGKDMRNVIQLLENVLS
PQQPSRFCSLHSTSVCPSRESLQTRTSWSAHQPCLHLQTGGAAYTQAQLCSSNITSDIWS
VDPSSVGSSPQRTGAHEQNPADSELYHSPSLDYSPSHYQVVQEGHLQFLRCISPHSDSTL
TPLQSISATLSSSVCSSSETSLHLVLPSRSEEGSFSQGTVSSFSLENLPGSWNQEGMASA
STKPLENLPLEVVTSTAEVKDNKAINV
Sequence length 1107
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Gene miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Action myoclonus-renal failure syndrome Likely pathogenic rs565744148 RCV003126210
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC VENOUS INSUFFICIENCY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (250)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 20193845, 28905228
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31593553
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29729275
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 29237910
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28024920
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 21335363
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 20193845, 28905228
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 12784104
★★★★★
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial Personality Disorder BEFREE 31526826
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28884815, 29846299, 29867417
★★★★★
★☆☆☆☆
Found in Text Mining only