Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3751
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily D member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCND2
Synonyms (NCBI Gene) Gene synonyms aliases
KV4.2, RK5
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT1080701 hsa-miR-1 CLIP-seq
MIRT1080702 hsa-miR-1248 CLIP-seq
MIRT1080703 hsa-miR-1273f CLIP-seq
MIRT1080704 hsa-miR-1297 CLIP-seq
MIRT1080705 hsa-miR-143 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001508 Process Action potential IBA
GO:0001508 Process Action potential IDA 14980201
GO:0001508 Process Action potential TAS 11102480
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IDA 24811166
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605410 6238 ENSG00000184408
Protein
UniProt ID Q9NZV8
Protein name A-type voltage-gated potassium channel KCND2 (Potassium voltage-gated channel subfamily D member 2) (Voltage-gated potassium channel subunit Kv4.2)
Protein function Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activ
PDB 7E7Z , 7E83 , 7E84 , 7E87 , 7E8B , 7E8E , 7E8H , 7F0J , 7F3F , 7UK5 , 7UKC , 7UKD , 7UKE , 7UKF , 7UKG , 7UKH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11601 Shal-type 3 31 Shal-type voltage-gated potassium channels, N-terminal Domain
PF02214 BTB_2 43 132 BTB/POZ domain Domain
PF00520 Ion_trans 184 417 Ion transport protein Family
PF11879 DUF3399 445 546 Domain of unknown function (DUF3399) Family
Tissue specificity TISSUE SPECIFICITY: Detected in ovary, in corpus luteum and in granulosa and theca cells in the follicle (at protein level) (PubMed:15991246). Highly expressed throughout the brain (PubMed:10551270, PubMed:10729221). Detected in amygdala, caudate nucleus,
Sequence
Sequence length 630
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Serotonergic synapse   Voltage gated Potassium channels
Phase 1 - inactivation of fast Na+ channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myoclonic Encephalopathy early myoclonic encephalopathy rs587777631 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Androgenetic Alopecia Androgenetic alopecia N/A N/A GWAS
Dermatitis Atopic dermatitis (moderate to severe) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 37122220
Autism Spectrum Disorder Associate 21996756
Autistic Disorder Associate 24501278
Depressive Disorder Major Associate 35468096
Drug Resistant Epilepsy Associate 28388656
Epilepsy Associate 24501278
Epilepsy Inhibit 30622142
Glioblastoma Associate 38150033
Glioma Associate 38150033
Lymphoma Follicular Associate 38150033