Gene Gene information from NCBI Gene database.
Entrez ID 8514
Gene name Potassium voltage-gated channel subfamily A regulatory beta subunit 2
Gene symbol KCNAB2
Synonyms (NCBI Gene)
AKR6A5HKvbeta2HKvbeta2.1HKvbeta2.2KCNA2BKV-BETA-2
Chromosome 1
Chromosome location 1p36.31
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.
110
miRTarBase ID miRNA Experiments Reference
MIRT1080364 hsa-miR-125a-5p CLIP-seq
MIRT1080365 hsa-miR-125b CLIP-seq
MIRT1080366 hsa-miR-3124-3p CLIP-seq
MIRT1080367 hsa-miR-3180-5p CLIP-seq
MIRT1080368 hsa-miR-324-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005515 Function Protein binding IPI 21357749, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol ISS
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601142 6229 ENSG00000069424
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13303
Protein name Voltage-gated potassium channel subunit beta-2 (EC 1.1.1.-) (K(+) channel subunit beta-2) (Kv-beta-2) (hKvbeta2)
Protein function Regulatory subunit of the voltage-gated potassium (Kv) Shaker channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:11825900, PubMed:7649300). The beta-2/KCNAB2 cytoplasmic subunit prom
PDB 1ZSX , 7EJ1 , 7EJ2 , 7WF3 , 7WF4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red 51 356 Aldo/keto reductase family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in myelinated nerve fibers in the spinal cord, in the juxtaparanodal region of the nodes of Ranvier, but also in the paranodal region (PubMed:11086297). Detected in hippocampus (at protein level) (PubMed:21357749). Detected in
Sequence
Sequence length 367
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Voltage gated Potassium channels
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
1P36 DELETION SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
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
1p36 deletion syndrome 1p36 deletion syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism HPO_DG
★☆☆☆☆
Found in Text Mining only
Aneurysm of aortic arch Aneurysm Of Aortic Arch HPO_DG
★☆☆☆☆
Found in Text Mining only
Annular pancreas Annular pancreas HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 23264583
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Awakening Epilepsy Epilepsy CTD_human_DG 11580756
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only