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FLASH GENE

Symbol

CLCNKA

contributors: mct - updated : 21-09-2011

HGNC name	chloride channel Ka
HGNC id	2026

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_004070 20 - 2556 75.15 687 - 2011 21248228 NM_001042704 20 - 2553 75.03 686 - 2011 21248228 an alternate in-frame splice site in the 3' coding region

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 Urinary kidney nephron       Homo sapiens   kidney juxtaglomerulus apparatus Henles loop   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve membrane spanning domains
	two CBS forming a stable globular domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

ortholog to murine Clc-k1 channel

Homologene

FAMILY

chloride channelfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
text	integral membrane proteine, highly expressed in the thin ascending limb of Henle's loop

basic FUNCTION	kidney-specific chloride channel that mediates trans-epithelial chloride transport in the thin ascending limb of the Henle loop and in the inner medulla
	involved in the renal concentration function
	important for maintenance of the corticomedullary osmotic gradient and the kidney capacity to concentrate urine

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming an heterodimeric channel with BSND (Barttin) in the thin ascending limb of Henle

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BSND4D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Bartter -like syndrome type 4 (in association with CLCNKB mutation or not)

Susceptibility

to salt-sensitive hypertension to heart failure

Variant & Polymorphism other	association between rs10927887 and heart failure

Candidate gene	putative candidate gene for nephrogenic diabetes insipidus
Marker
Therapy target

ANIMAL & CELL MODELS

nephrogenic diabetes insipidus in mice CLC-K1 -/-