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FLASH GENE

Symbol

CLCNKB

contributors: mct - updated : 06-03-2017

HGNC name	chloride channel Kb
HGNC id	2027

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve membrane spanning domains (12TM)
	cytoplasmic N and C termini
	two CBS forming a stable globular domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

ortholog to murine Clcnkb

Homologene

FAMILY

chloride channel Kb family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	basolateral membrane of the thick ascending limb of Henle loop

basic FUNCTION	participating in renal NaCl reabsorption
	reclaiming most of the chloride that is left in the urine
	may be important in urinary concentrating mechanisms
	key determinant of tubular reabsorption of chloride and electrolytes along the distal tubule
	plays a major role in the absorption of NaCl in the distal nephron

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

excretion

PATHWAY

metabolism

signaling

a component

heterodimerizing with Barttin (BSND)

INTERACTION

DNA

RNA

small molecule

protein	binding to BSND
	require the accessory subunit barttin for proper function and membrane insertion

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BSND3 , BSND4D , GTMS2

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 CLCNKA mutation or not)

Susceptibility

to the development of essential hypertension

Variant & Polymorphism other

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS