Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3751
Gene name	Potassium voltage-gated channel subfamily D member 2
Gene symbol	KCND2
Synonyms (NCBI Gene)	KV4.2RK5
Chromosome	7
Chromosome location	7q31.31
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

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments
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
MIRT1080706	hsa-miR-183	CLIP-seq
MIRT1080707	hsa-miR-188-5p	CLIP-seq
MIRT1080708	hsa-miR-204	CLIP-seq
MIRT1080709	hsa-miR-206	CLIP-seq
MIRT1080710	hsa-miR-211	CLIP-seq
MIRT1080711	hsa-miR-26a	CLIP-seq
MIRT1080712	hsa-miR-26b	CLIP-seq
MIRT1080713	hsa-miR-3200-5p	CLIP-seq
MIRT1080714	hsa-miR-346	CLIP-seq
MIRT1080715	hsa-miR-3673	CLIP-seq
MIRT1080716	hsa-miR-4251	CLIP-seq
MIRT1080717	hsa-miR-4288	CLIP-seq
MIRT1080718	hsa-miR-4303	CLIP-seq
MIRT1080719	hsa-miR-4307	CLIP-seq
MIRT1080720	hsa-miR-4329	CLIP-seq
MIRT1080721	hsa-miR-4465	CLIP-seq
MIRT1080722	hsa-miR-4477b	CLIP-seq
MIRT1080723	hsa-miR-4539	CLIP-seq
MIRT1080724	hsa-miR-4659a-3p	CLIP-seq
MIRT1080725	hsa-miR-4659b-3p	CLIP-seq
MIRT1080726	hsa-miR-4672	CLIP-seq
MIRT1080727	hsa-miR-4698	CLIP-seq
MIRT1080728	hsa-miR-4708-5p	CLIP-seq
MIRT1080729	hsa-miR-4729	CLIP-seq
MIRT1080730	hsa-miR-4760-5p	CLIP-seq
MIRT1080731	hsa-miR-4770	CLIP-seq
MIRT1080732	hsa-miR-4778-3p	CLIP-seq
MIRT1080733	hsa-miR-4781-3p	CLIP-seq
MIRT1080734	hsa-miR-548ac	CLIP-seq
MIRT1080735	hsa-miR-548ae	CLIP-seq
MIRT1080736	hsa-miR-548aj	CLIP-seq
MIRT1080737	hsa-miR-548am	CLIP-seq
MIRT1080738	hsa-miR-548d-3p	CLIP-seq
MIRT1080739	hsa-miR-548x	CLIP-seq
MIRT1080740	hsa-miR-548z	CLIP-seq
MIRT1080741	hsa-miR-587	CLIP-seq
MIRT1080742	hsa-miR-599	CLIP-seq
MIRT1080743	hsa-miR-613	CLIP-seq
MIRT1080744	hsa-miR-632	CLIP-seq
MIRT1080745	hsa-miR-640	CLIP-seq
MIRT1080746	hsa-miR-654-3p	CLIP-seq
MIRT1080724	hsa-miR-4659a-3p	CLIP-seq
MIRT1080725	hsa-miR-4659b-3p	CLIP-seq
MIRT2020009	hsa-miR-1976	CLIP-seq
MIRT2020010	hsa-miR-2117	CLIP-seq
MIRT2020011	hsa-miR-324-5p	CLIP-seq
MIRT2020012	hsa-miR-3653	CLIP-seq
MIRT2020013	hsa-miR-4273	CLIP-seq
MIRT2020014	hsa-miR-4279	CLIP-seq
MIRT2020015	hsa-miR-4699-3p	CLIP-seq
MIRT1080730	hsa-miR-4760-5p	CLIP-seq
MIRT2251870	hsa-miR-3647-3p	CLIP-seq
MIRT2251871	hsa-miR-889	CLIP-seq
MIRT2389626	hsa-miR-4496	CLIP-seq
MIRT2389627	hsa-miR-4738-3p	CLIP-seq
MIRT2389628	hsa-miR-4803	CLIP-seq

Show/Hide all (66)

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
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	ISS
GO:0005249	Function	Voltage-gated potassium channel activity	NAS	11102480
GO:0005250	Function	A-type (transient outward) potassium channel activity	IBA
GO:0005250	Function	A-type (transient outward) potassium channel activity	IDA	10551270, 11507158, 14623880, 14695263, 14980201, 15454437, 16934482, 19171772, 24501278, 24811166, 34552243, 35597238
GO:0005250	Function	A-type (transient outward) potassium channel activity	IEA
GO:0005250	Function	A-type (transient outward) potassium channel activity	IMP	15454437
GO:0005250	Function	A-type (transient outward) potassium channel activity	ISS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	10551270, 11287421, 14623880, 14980201, 15358149
GO:0005886	Component	Plasma membrane	IDA	10551270, 14623880, 14695263, 14980201, 15454437, 16934482, 19171772, 24501278, 24811166
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	15454437
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006936	Process	Muscle contraction	IDA	11287421
GO:0007268	Process	Chemical synaptic transmission	TAS	11102480
GO:0008016	Process	Regulation of heart contraction	NAS	11747815
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	15454437, 24811166
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043197	Component	Dendritic spine	NAS	11102480
GO:0043204	Component	Perikaryon	IEA
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045475	Process	Locomotor rhythm	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071193	Component	Kv4.2-KChIP2 channel complex	IPI	14980201
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10551270, 11507158, 14623880, 14695263, 14980201, 15454437, 16934482, 19171772, 24501278, 24811166, 34552243, 35597238
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086009	Process	Membrane repolarization	IDA	14980201
GO:0086009	Process	Membrane repolarization	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1905030	Function	Voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1905030	Function	Voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
605410	6238	ENSG00000184408

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

MAAGVAAWLPFARAAAIGWMPVASGPMPAPPRQERKRTQDALIVLNVSGTRFQTWQDTLE
RYPDTLLGSSERDFFYHPETQQYFFDRDPDIFRHILNFYRTGKLHYPRHECISAYDEELA
FFGLIPEIIGDCCYEEYKDRRRENAERLQDDADTDTAGESALPTMTARQRVWRAFENPHT
STMALVFYYVTGFFIAVSVIANVVETVPCGSSPGHIKELPCGERYAVAFFCLDTACVMIF
TVEYLLRLAAAPSRYRFVRSVMSIIDVVAILPYYIGLVMTDNEDVSGAFVTLRVFRVFRI
FKFSRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPAA
FWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQRAD
KRRAQKKARLARIRAAKSGSANAYMQSKRNGLLSNQLQSSEDEQAFVSKSGSSFETQHHH
LLHCLEKTTNHEFVDEQVFEESCMEVATVNRPSSHSPSLSSQQGVTSTCCSRRHKKTFRI
PNANVSGSHQGSIQELSTIQIRCVERTPLSNSRSSLNAKMEECVKLNCEQPYVTTAIISI
PTPPVTTPEGDDRPESPEYSGGNIVRVSAL

Sequence length

630

Interactions

View interactions

	KEGG		Reactome
	Serotonergic synapse		Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Early myoclonic encephalopathy	Pathogenic; Likely pathogenic	rs1236737877, rs1273708047, rs587777631, rs1472234526, rs1792826036, rs750457269	RCV001949358 RCV002005184 RCV001224876 RCV002816426 RCV001302928 RCV001307073 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCND2-related neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs587777631, rs1792826036	RCV005867922 RCV005253790	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1792826036	RCV004017817	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCND2-associated neurodevelopmental syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCND2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial fibrillation	Pubtator	37122220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21996756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24501278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24501278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	29581270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	10942109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29119925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	35468096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24501278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24501278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	29581270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30622142	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16934482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38150033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38150033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30556603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10942109, 15563876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	38150033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30051729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	30571183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24501278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30622142	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30051729		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCND2 (potassium voltage-gated channel subfamily D member 2)