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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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000085 20 - 2626 NP_000076 - 687 - 2015 26013830 NM_001165945 19 - 2174 NP_001159417 - 517 - 2015 26013830

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   kidney Henle's loop thin limb     Homo sapiens   kidney Henle's loop ascending thick limb     Homo sapiens Endocrine parathyroid         Hearing/Equilibrium ear inner cochlea     Homo sapiens Urinary bladder           kidney nephron

cell lineage

cell lines

fluid/secretion

at STAGE

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