KCNH4 (potassium voltage-gated channel subfamily H member 4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 23415
Gene name Potassium voltage-gated channel subfamily H member 4
Gene symbol KCNH4
Synonyms (NCBI Gene)
BEC2ELK1Kv12.3
Chromosome 17
Chromosome location 17q21.2
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.
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miRTarBase ID miRNA Experiments Reference
MIRT018899 hsa-miR-335-5p Microarray 18185580
MIRT030236 hsa-miR-26b-5p Microarray 19088304
MIRT1081068 hsa-miR-1207-3p CLIP-seq
MIRT1081069 hsa-miR-138 CLIP-seq
MIRT1081070 hsa-miR-1972 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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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 TAS 10455180
GO:0005267 Function Potassium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
604528 6253 ENSG00000089558
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQ05
Protein name Voltage-gated delayed rectifier potassium channel KCNH4 (Brain-specific eag-like channel 2) (BEC2) (Ether-a-go-go-like potassium channel 1) (ELK channel 1) (ELK1) (Potassium voltage-gated channel subfamily H member 4) (Voltage-gated potassium channel subu
Protein function Pore-forming (alpha) subunit of a voltage-gated delayed rectifier (PubMed:10455180). Activates at more negative voltages, exhibits fast prepulse-independent activation kinetics and deactivates much more slowly, but shows no inactivation (By simi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 226 → 486 Ion transport protein Family
PF13426 PAS_9 27 → 135 PAS domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected only in brain, in particular in the telencephalon (PubMed:10455180). Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus (PubMed:10455180). {ECO:0000269|PubMed:10455180}.
Sequence 
MPVMKGLLAPQNTFLDTIATRFDGTHSNFLLANAQGTRGFPIVYCSDGFCELTGYGRTEV
MQKTCSCRFLYGPETSEPALQRLHKALEGHQEHRAEICFYRKDGSAFWCLLDMMPIKNEM
GEVVLFLFSFKDITQSGSPGLGPQGGRGDSNHENSLGRRGATWKFRSARRRSRTVLHRLT
GHFGRRGQGGMKANNNVFEPKPSVPEYKVASVGGSRCLLLHYSVSKAIWDGLILLATFYV
AVTVPYNVCFSGDDDTPITSRHTLVSDIAVEMLFILDIILNFRTTYVSQSGQVISAPRSI
GLHYLATWFFIDLIAALPFDLLYIFNITVTSLVHLLKTVRLLRLLRLLQKLERYSQCSAV
VLTLLMSVFALLAHWMACIWYVIGRREMEANDPLLWDIGWLHELGKRLEVPYVNGSVGGP
SRRSAYIAALYFTLSSLTSVGFGNVCANTDAEKIFSICTMLIGALMHAVVFGNVTAIIQR
MYSRRSLYHSRMKDLKDFIRVHRLPRPLKQRMLEYFQTTWAVNSGIDANELLRDFPDELR
ADIAMHLNREILQLPLFGAASRGCLRALSLHIKTSFCAPGEYLLRRGDALQAHYYVCSGS
LEVLRDNMVLAILGKGDLIGADIPEPGQEPGLGADPNFVLKTSADVKALTYCGLQQLSSR
GLAEVLRLYPEYGAAFRAGLPRDLTFNLRQGSDTSGLSRFSRSPRLSQPRSESLGSSSDK
TLPSITEAESGAEPGGGPRPRRPLLLPNLSPARPRGSLVSLLGEELPPFSALVSSPSLSP
SLSPALAGQGHSASPHGPPRCSAAWKPPQLLIPPLGTFGPPDLSPRIVDGIEDSGSTAEA
PSFRFSRRPELPRPRSQAPPTGTRPSPELASEAEEVKEKVCRLNQEISRLNQEVSQLSRE
LRHIMGLLQARLGPPGHPAGSAWTPDPPCPQLRPPCLSPCASRPPPSLQDTTLAEVHCPA
SVGTMETGTALLDLRPSILPPYPSEPDPLGPSPVPEASPPTPSLLRHSFQSRSDTFH
Sequence length 1017
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Voltage gated Potassium channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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 Reference Evidence Score
Cervical cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (45)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 12525696
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 12525696
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 20727996
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21258408, 21499305, 25773924
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 29736027
★★★★★
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia BEFREE 12954984
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 17203534
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 17203534
★★★★★
★☆☆☆☆
Found in Text Mining only
Familial medullary thyroid carcinoma Medullary thyroid carcinoma BEFREE 17209045
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for KCNH4.

No additional diseases found yet through genes similar to KCNH4.