KCND1 (potassium voltage-gated channel subfamily D member 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3750
• Gene name: Potassium voltage-gated channel subfamily D member 1
• Gene symbol: KCND1
• Synonyms (NCBI Gene): KV4.1
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs376253982	C>A	Likely-pathogenic	Intron variant, genic downstream transcript variant

miRNA Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023663	hsa-miR-1-3p	Microarray	18668037
MIRT029175	hsa-miR-26b-5p	Microarray	19088304
MIRT487930	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT487929	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT487928	hsa-miR-4784	PAR-CLIP	23592263
MIRT487927	hsa-miR-4434	PAR-CLIP	23592263
MIRT487926	hsa-miR-4516	PAR-CLIP	23592263
MIRT487924	hsa-miR-5703	PAR-CLIP	23592263
MIRT487925	hsa-miR-765	PAR-CLIP	23592263
MIRT487923	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT487922	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT487921	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT487920	hsa-miR-135b-3p	PAR-CLIP	23592263
MIRT487930	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT487929	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT487928	hsa-miR-4784	PAR-CLIP	23592263
MIRT487927	hsa-miR-4434	PAR-CLIP	23592263
MIRT487926	hsa-miR-4516	PAR-CLIP	23592263
MIRT487924	hsa-miR-5703	PAR-CLIP	23592263
MIRT487925	hsa-miR-765	PAR-CLIP	23592263
MIRT487923	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT487922	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT487921	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT487920	hsa-miR-135b-3p	PAR-CLIP	23592263
MIRT1080677	hsa-miR-1224-5p	CLIP-seq
MIRT1080678	hsa-miR-1270	CLIP-seq
MIRT1080679	hsa-miR-143	CLIP-seq
MIRT1080680	hsa-miR-1825	CLIP-seq
MIRT1080681	hsa-miR-1827	CLIP-seq
MIRT1080682	hsa-miR-2861	CLIP-seq
MIRT1080683	hsa-miR-3147	CLIP-seq
MIRT1080684	hsa-miR-3190	CLIP-seq
MIRT1080685	hsa-miR-3689a-3p	CLIP-seq
MIRT1080686	hsa-miR-3689c	CLIP-seq
MIRT1080687	hsa-miR-3977	CLIP-seq
MIRT1080688	hsa-miR-4293	CLIP-seq
MIRT1080689	hsa-miR-4425	CLIP-seq
MIRT1080690	hsa-miR-4476	CLIP-seq
MIRT1080691	hsa-miR-4533	CLIP-seq
MIRT1080692	hsa-miR-4683	CLIP-seq
MIRT1080693	hsa-miR-4690-3p	CLIP-seq
MIRT1080694	hsa-miR-4751	CLIP-seq
MIRT1080695	hsa-miR-4770	CLIP-seq
MIRT1080696	hsa-miR-508-5p	CLIP-seq
MIRT1080697	hsa-miR-520f	CLIP-seq
MIRT1080698	hsa-miR-620	CLIP-seq
MIRT1080699	hsa-miR-671-5p	CLIP-seq
MIRT1080700	hsa-miR-766	CLIP-seq
MIRT2020008	hsa-miR-4802-3p	CLIP-seq
MIRT2555141	hsa-miR-2278	CLIP-seq
MIRT2555142	hsa-miR-3157-5p	CLIP-seq
MIRT1080688	hsa-miR-4293	CLIP-seq
MIRT2555143	hsa-miR-4324	CLIP-seq
MIRT2555144	hsa-miR-4468	CLIP-seq

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005250	Function	A-type (transient outward) potassium channel activity	IBA
GO:0005250	Function	A-type (transient outward) potassium channel activity	IDA	15454437
GO:0005250	Function	A-type (transient outward) potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 300281
• HGNC: 6237
• e!Ensembl: ENSG00000102057

Protein

• UniProt ID: Q9NSA2
• Protein name: A-type voltage-gated potassium channel KCND1 (Potassium voltage-gated channel subfamily D member 1) (Shal-type potassium channel KCND1) (Voltage-gated potassium channel subunit Kv4.1)
• Protein function: A-type voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes in the brain (PubMed:15454437). Mediates A-type current I(SA) in suprachiasmatic nucleus (SCN) neurons. Exhibits a low-threshold A-type
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	185 → 419	Ion transport protein	Family
  PF02214	BTB_2	42 → 131	BTB/POZ domain	Domain
  PF11601	Shal-type	3 → 31	Shal-type voltage-gated potassium channels, N-terminal	Domain
  PF11879	DUF3399	447 → 550	Domain of unknown function (DUF3399)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain. {ECO:0000269|PubMed:10729221}.
• Sequence:

  MAAGLATWLPFARAAAVGWLPLAQQPLPPAPGVKASRGDEVLVVNVSGRRFETWKNTLDR
  YPDTLLGSSEKEFFYDADSGEYFFDRDPDMFRHVLNFYRTGRLHCPRQECIQAFDEELAF
  YGLVPELVGDCCLEEYRDRKKENAERLAEDEEAEQAGDGPALPAGSSLRQRLWRAFENPH
  TSTAALVFYYVTGFFIAVSVIANVVETIPCRGSARRSSREQPCGERFPQAFFCMDTACVL
  IFTGEYLLRLFAAPSRCRFLRSVMSLIDVVAILPYYIGLLVPKNDDVSGAFVTLRVFRVF
  RIFKFSRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGTNKTNFTSIP
  AAFWYTIVTMTTLGYGDMVPSTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQR
  ADKRRAQQKVRLARIRLAKSGTTNAFLQYKQNGGLEDSGSGEEQALCVRNRSAFEQQHHH
  LLHCLEKTTCHEFTDELTFSEALGAVSPGGRTSRSTSVSSQPVGPGSLLSSCCPRRAKRR
  AIRLANSTASVSRGSMQELDMLAGLRRSHAPQSRSSLNAKPHDSLDLNCDSRDFVAAIIS
  IPTPPANTPDESQPSSPGGGGRAGSTLRNSSLGTPCLFPETVKISSL

• Sequence length: 647

Pathways

Reactome Pathway

Voltage gated Potassium channels

Phase 1 - inactivation of fast Na+ channels

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
KCND1-associated seizure disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30809043	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20930388	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCND2 2 shared pathwaysVoltage gated Potassium channels, Phase 1 - inactivation of fast Na+ channels Related via 2 shared pathways including Voltage gated Potassium channels, Phase 1 - inactivation of fast Na+ channels. KCND3 2 shared pathwaysVoltage gated Potassium channels, Phase 1 - inactivation of fast Na+ channels Related via 2 shared pathways including Voltage gated Potassium channels, Phase 1 - inactivation of fast Na+ channels.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCND2	0	[]	2	["Voltage gated Potassium channels","Phase 1 - inactivation of fast Na+ channels"]	0	[]
KCND3	0	[]	2	["Voltage gated Potassium channels","Phase 1 - inactivation of fast Na+ channels"]	0	[]

Diseases Linked via Similar Genes

Neurodevelopmental disorder Linked via 2 of 2 related genesKCND2, KCND3 Prostate cancer Linked via 2 of 2 related genesKCND2, KCND3 Androgenetic alopecia Linked via 1 of 2 related genesKCND2 Eczema Linked via 1 of 2 related genesKCND2 Attention deficit hyperactivity disorder Linked via 1 of 2 related genesKCND2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Neurodevelopmental disorder	2	["KCND2","KCND3"]
Prostate cancer	2	["KCND2","KCND3"]
Androgenetic alopecia	1	["KCND2"]
Eczema	1	["KCND2"]
Attention deficit hyperactivity disorder	1	["KCND2"]