Gene Gene information from NCBI Gene database.
Entrez ID 27345
Gene name Potassium calcium-activated channel subfamily M regulatory beta subunit 4
Gene symbol KCNMB4
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q15
Summary MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the
miRNA miRNA information provided by mirtarbase database.
52
miRTarBase ID miRNA Experiments Reference
MIRT024739 hsa-miR-215-5p Microarray 19074876
MIRT026374 hsa-miR-192-5p Microarray 19074876
MIRT657011 hsa-miR-4307 HITS-CLIP 23824327
MIRT657010 hsa-miR-1185-5p HITS-CLIP 23824327
MIRT657009 hsa-miR-3679-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001508 Process Action potential IDA 10692449
GO:0005513 Process Detection of calcium ion IBA
GO:0005513 Process Detection of calcium ion IDA 10692449
GO:0005515 Function Protein binding IPI 10692449, 32296183
GO:0005886 Component Plasma membrane IDA 10692449
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605223 6289 ENSG00000135643
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86W47
Protein name Calcium-activated potassium channel subunit beta-4 (BK channel subunit beta-4) (BKbeta4) (Hbeta4) (Calcium-activated potassium channel, subfamily M subunit beta-4) (Charybdotoxin receptor subunit beta-4) (K(VCA)beta-4) (Maxi K channel subunit beta-4) (Slo
Protein function Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivit
PDB 5Y7L , 6V22 , 6V35 , 9CZH , 9CZJ , 9CZK , 9CZM , 9CZO , 9CZQ , 9D18 , 9D19
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03185 CaKB 8 203 Calcium-activated potassium channel, beta subunit Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain. In brain, it is expressed in the cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe, putamen, amygdala, caudate nucleus, corpus callosum, hippocampus, substa
Sequence
Sequence length 210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway
Vascular smooth muscle contraction
Insulin secretion
  Ca2+ activated K+ channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Evidence Score
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 22965006 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 34562210 Associate
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood coagulation disorder Pubtator 35039944 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy, Temporal Lobe Epilepsy BEFREE 23623847
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25300797
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma BEFREE 25300797
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 25300797, 25418192 Associate
★☆☆☆☆
Found in Text Mining only