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FLASH GENE

Symbol

SLC4A7

contributors: mct - updated : 20-08-2015

HGNC name	solute carrier family 4, sodium bicarbonate cotransporter, member 7
HGNC id	11033

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_003615 25 - 7767 NP_003606 135.9 1214 - 2007 19638364 NM_001258379 25 - 7741 NP_001245308 - 1131 - 2007 19638364 NM_001258380 24 - 7395 NP_001245309 - 1090 - 2007 19638364

EXPRESSION

Type

widely

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 Digestive intestine large intestine colon     Homo sapiens   intestine large intestine rectum     Homo sapiens   salivary gland parotid     highly Homo sapiens Hearing/Equilibrium ear inner cochlea     Reproductive male system prostate     highly Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium stereocilia Visual cone photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve membrane spanning domains protein with intracellular N and C termini
	a PDZ-binding motif mediating interaction with the CFTR, SLC9A3R1 complex and probably with USH1C

HOMOLOGY

interspecies	homolog to rattus Slc4a7 (93.8pc)
	homolog to murine Slc4a7 (94.6pc)

Homologene

FAMILY	solute carrier family 4, chloride-bicarbonate
	anion exchanger family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus
text	USH2A, MASS1 and SLC4A7 are co-expressed with the USH1-protein harmonin in the synaptic terminals of both retinal photoreceptors and inner ear hair cells
	localizes in mitochondria and suppresses the ischaemia-induced activation of the mitochondrial pathway of apoptosis in coronary endothelial cells

basic FUNCTION	may play a role in bicarbonate salvage in secretory epithelia
	may also have an associated sodium channel activity
	stable association of SLC4A7 at the membrane may facilitate constitutive uptake of HCO(3)(-) across the basolateral membrane (BLM)
	in the kidney medullary thick ascending limb cell line is upregulated under acidic conditions and enhances ammonium transport
	is electroneutral because it has an apparent stoichiometry of 1:1
	plays an essential role in intracellular pH regulation and transepithelial HCO(3)(-) movement in the body
	plays a critical role in pHi regulation in colonic epithelial cells
	catalyzes the electroneutral movement of 1 Na(+):1 HCO3(-) into kidney cells
	plays a role in transepithelial HCO3 (-) movement and intracellular pH maintenance in many tissues
	plays a role in neutralizing intracellular acid loads at the basolateral membrane in cells of the medullary thick ascending limb (mTAL)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with the postsynaptic density protein DLG4 in the brain, and DLG4 increases its channel-like activity while negligibly affecting Na/HCO(3) cotransport
	physically and functionally associated with a variety of membrane and cytosolic proteins via the binding partners
	binds to many PDZ proteins, which in turn may allow the transporter to associate with other physiologically important proteins

cell & other

REGULATION

Other

regulated by CFTR (Park 2002)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

may be potential causative gene for breast cancer (Ahmed 2009)

Variant & Polymorphism SNP	allelic variants might alter disposition and/or excretion of drugs and neurotransmitters in brain and periphery in ways that could contribute to differential vulnerabilities to addictions (Ishiguro 2007)

Candidate gene	for USH2B
	for the contribution to vulnerability to addictions (Ishiguro 2007)
Marker
Therapy target

ANIMAL & CELL MODELS