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FLASH GENE

Symbol

KCNH3

contributors: mct/npt/shn - updated : 09-12-2010

HGNC name	potassium voltage-gated channel, subfamily H (eag-related), member 3
HGNC id	6252

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012284 15 - 3853 NP_036416 117 1083 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon amygdala   specific Homo sapiens   brain forebrain cerebral cortex   specific Homo sapiens   brain limbic system hippocampus   highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum     specific Homo sapiens Nervous central     specific Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	PAS family, cytosolic N terminus domain, highly conserved, controlling desactivation by association with K+ channel
	six membrane spanning domains
	an hydrophobic pore
	TM domains 5 and 6
	arginine-rich fourth TM domain controling voltage dependent gating
	cytosolic C terminus, sensitive to changes in membrane potential
	C-terminal region containing a cyclic-nucleotide-binding homology domain (CNBHD) and C-linker that couples the CNBHD to the pore

HOMOLOGY

interspecies	ortholog to Kcnh3, Mus musculus
	ortholog to KCNH3, Pan troglodytes
	ortholog to Kcnh3, Rattus norvegicus

Homologene

FAMILY	potassium channel family
	H (Eag) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

basic FUNCTION	may be involved in cellular excitability of restricted neurons in the human central nervous system
	potassium voltage-gated channel
	a potent regulator of excitability in hippocampal pyramidal neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Kcnh3-/- mice exhibit neuronal hyperexcitability including frequent interictal spiking, spontaneous seizures and increased sensitivity to the chemoconvulsant pentylenetetrazol