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FLASH GENE

Symbol

KCNQ4

contributors: mct - updated : 22-08-2012

HGNC name	potassium voltage-gated channel, KQT-like subfamily, member 4
HGNC id	6298

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	anonymous DNA segment
STRUCTURE	54.00 kb     14 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - D1S201 - D1S255 - D1S2783 - D1S432 - D1S1591 - D1S2892 - D1S2657 - D1S2743 - MYCL1 - D1S1591 - D1S432 - D1S2101 - D1S1598 - D1S2484 - D1S2743 - D1S3435 - D1S2706 - KCNQ4 /DFNA2 - D1S2645 - D1S193 - D1S2861 - D1S2632 - D1S2722 - cen
Authors	Kubisch (99),Coucke (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004700 14 - 4116 - 695 - 2006 16917933 NM_172163 13 - 3954 - 641 - 2006 16917933

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 Hearing/Equilibrium ear inner cochlea     Homo sapiens   ear inner vestibule     Nervous brain         Reproductive female system breast mammary gland     Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six membrane spanning domains
	an hydrophobic pore (P loop), flanked by TM domains 5 and 6, sensitive to changes in membrane potential
	an internal PDZ (PSD-95) binding motif (KTXXXI) near the KCNQ4 C terminus

HOMOLOGY

Homologene

FAMILY

potassium channel family, KQT subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	at the basal membrane of cochlear outer hair cells

basic FUNCTION	probably important in the regulation of neuronal excitability
	may underlie a potassium current involved in
	regulating the excitability of sensory cells of the cochlea

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

heteromultimers with KCNQ3

INTERACTION

DNA

RNA

small molecule

protein

HSP90AA1 and HSP90B1 play key roles in controlling KCNQ4 homeostasis via the HSP40-HSP70-HOP-HSP90 chaperone pathway and the ubiquitin-proteasome pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA2

related resource

Hereditary Hearing Loss at GeneDis

Susceptibility

to age-related hearing impairment

Variant & Polymorphism SNP	increasing the risk of age-related hearing impairment, (SNP18) for the high frequencies and three SNPs (SNP9, SNP12, and SNP18) for the low frequencies

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS