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KCND2 potassium voltage-gated channel subfamily D member 2 [ Homo sapiens (human) ]

Gene ID: 3751, updated on 2-Oct-2018

Summary

Official Symbol
KCND2provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily D member 2provided by HGNC
Primary source
HGNC:HGNC:6238
See related
Ensembl:ENSG00000184408 MIM:605410; Vega:OTTHUMG00000156989
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RK5; KV4.2
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, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 4.5), endometrium (RPKM 1.1) and 5 other tissues See more
Orthologs

Genomic context

See KCND2 in Genome Data Viewer
Location:
7q31.31
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (120273638..120750333)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (119913689..120390387)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 29, pseudogene Neighboring gene uncharacterized LOC105375477 Neighboring gene RNA, U6 small nuclear 581, pseudogene Neighboring gene tetraspanin 12 Neighboring gene inhibitor of growth family member 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Phase 1 - inactivation of fast Na+ channels, organism-specific biosystem (from REACTOME)
    Phase 1 - inactivation of fast Na+ channels, organism-specific biosystemPhase 1 of the cardiac action potential is the inactivation of the fast Na+ channels. The transient net outward current causing the small downward deflection (the "notch" of the action potetial) is d...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Serotonergic synapse, organism-specific biosystem (from KEGG)
    Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1044, MGC119702, MGC119703

Gene Ontology Provided by GOA

Function Evidence Code Pubs
A-type (transient outward) potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
A-type (transient outward) potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
A-type (transient outward) potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
voltage-gated potassium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
action potential TAS
Traceable Author Statement
more info
PubMed 
cellular response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
locomotor rhythm IEA
Inferred from Electronic Annotation
more info
 
neuronal action potential IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine NAS
Non-traceable Author Statement
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
plasma membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily D member 2
Names
potassium channel, voltage gated Shal related subfamily D, member 2
voltage-gated potassium channel subunit Kv4.2
voltage-sensitive potassium channel

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034230.1 RefSeqGene

    Range
    5001..481666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012281.2NP_036413.1  potassium voltage-gated channel subfamily D member 2 precursor

    See identical proteins and their annotated locations for NP_036413.1

    Status: REVIEWED

    Source sequence(s)
    AC004888, AC092020, BC110449
    Consensus CDS
    CCDS5776.1
    UniProtKB/Swiss-Prot
    Q9NZV8
    UniProtKB/TrEMBL
    A4D0V9
    Related
    ENSP00000333496.4, OTTHUMP00000211253, ENST00000331113.8, OTTHUMT00000346996
    Conserved Domains (4) summary
    pfam11601
    Location:328
    Shal-type; Shal-type voltage-gated potassium channels, N-terminal
    pfam00520
    Location:184415
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
    pfam11879
    Location:445546
    DUF3399; Domain of unknown function (DUF3399)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    120273638..120750333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516165.3XP_011514467.1  potassium voltage-gated channel subfamily D member 2 isoform X1

    Conserved Domains (4) summary
    smart00225
    Location:43140
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:216372
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
    pfam11601
    Location:328
    Shal-type; Shal-type voltage-gated potassium channels
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