• Gene id: 3752

Gene Summary

• Gene Symbol: KCND3   Gene   UCSC   Ensembl
• Aliases: BRGDA9, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22
• Gene name: potassium voltage-gated channel subfamily D member 3
• Alternate names: potassium voltage-gated channel subfamily D member 3, potassium channel, voltage gated Shal related subfamily D, member 3, potassium ionic channel Kv4.3, potassium voltage-gated channel long, potassium voltage-gated channel, Shal-related subfamily, member 3, s,
• Gene location: 1p13.2 (69915040: 69942944)     Exons: 6     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 605411

Protein Summary

• Protein general information: Q9UK17  
  • Name: Potassium voltage gated channel subfamily D member 3 (Voltage gated potassium channel subunit Kv4.3)
  • Length: 655  
  • Mass: 73451
  • Tissue specificity: Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most tissues. Isoform 1 and isof
• Sequence:

  MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFF
  NEDTKEYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDD
  NDSENNQESMPSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVA
  FFCLDTACVMIFTVEYLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKF
  SRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVP
  KTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLL
  NEALELTGTPEEEHMGKTTSLIESQHHHLLHCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSM
  QNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNSNLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDG
  LRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNTNIPSIASNVVKVSAL

• Structural information:
  • Interpro: IPR000210  IPR005821  IPR003968  IPR003975  IPR004056   IPR024587  IPR021645  IPR011333  IPR003131  IPR028325  IPR027359  
  • PDB: 1S1G 2NZ0
  • PDBsum: 1S1G 2NZ0
  • STRING: ENSP00000319591
• Other Databases: GeneCards:  KCND3  Malacards:  KCND3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097623	potassium ion export across plasma membrane	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0005250	A-type (transient outward) potassium channel activity	IBA	contributes to
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005250	A-type (transient outward) potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0005250	A-type (transient outward) potassium channel activity	IDA	contributes to
GO:0044325	ion channel binding	IPI	molecular function
GO:0005250	A-type (transient outward) potassium channel activity	IDA	contributes to
GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	TAS	contributes to
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	contributes to
GO:0097623	potassium ion export across plasma membrane	IDA	biological process
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0086009	membrane repolarization	IDA	biological process
GO:0097623	potassium ion export across plasma membrane	IDA	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	TAS	biological process
GO:0097623	potassium ion export across plasma membrane	ISS	biological process
GO:0099625	ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0098915	membrane repolarization during ventricular cardiac muscle cell action potential	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Brugada syndrome	KEGG:H00728
Spinocerebellar ataxia	KEGG:H00063
Brugada syndrome	KEGG:H00728
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R