K+ voltage-gated channel subfamily H member 2; voltage-gated K+ channel subunit Kv11.1; ether-a-go-go-related gene K+ channel 1; ether-a-go-go-related protein 1; Eag-related protein 1; ERG-1; hERG-1; hERG1; H-ERG; Eag homolog (KCNH2, ERG, ERG1, HERG)
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Function
- pore-forming (alpha) subunit of the voltage-gated inwardly rectifying K+ channel
- channel properties are modulated by cAMP & subunit assembly
- mediates the rapidly activating component of the delayed rectifying K+ current in heart (IKr)
- isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1
- phosphorylated on Ser & Thr
- phosphorylation by PKA inhibits ion conduction
- the K+ channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits
- heteromultimer with KCNH6/ERG2 & KCNH7/ERG3
- interacts with ALG10B (putative)
- heteromultimer with KCNE1 & KCNE2
Structure
- the segment S4 is probably the voltage-sensor
- contains series of positively charged amino acids at every 3rd position
- belongs to the K+ channel family, H (Eag) subfamily
- contains 1 cyclic nucleotide-binding domain
- contains 1 PAC (PAS-associated C-terminal) domain
- contains 1 PAS (PER-ARNT-SIM) domain
Compartment
- membrane
Alternative splicing
- named isoforms=4
Expression
- highly expressed in heart & brain
Pathology
- defects in KCNH2 are the cause of:
Notes
- how is this different from the Cardiac Inward Rectifier (CIR)?
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q12809.html
- ↑ LQTSdb; Note: KCNH2 mutations page http://www.ssi.dk/graphics/html/lqtsdb/herg.htm
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/KCNH2
- ↑ Wikipedia; Note: ether-a-go-go K+ channels entry http://en.wikipedia.org/wiki/ether-a-go-go_K+_channels
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998