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FLASH GENE

Symbol

SLC24A4

contributors: mct/npt/pgu - updated : 16-03-2013

HGNC name	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
HGNC id	10978

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	178.90 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153646 17 - 4485 NP_705932 - 605 - 2002 12379639 NM_153647 17 - 4428 NP_705933 - 586 - 2002 12379639 NM_153648 17 - 4437 NM_153647 - 558 - 2002 12379639

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 Cardiovascular vessels aorta       Digestive mouth tooth enamel   highly Homo sapiens Fetal Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth vessel     Muscular striatum cardiac

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Digestive ameloblast Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two large hydrophilic loops and two sets of transmembrane spanning segments (TMs)
	the first large hydrophilic loop is located extracellularly at the N-terminus
	the other is cytoplasmic and separates the two sets of TMs

HOMOLOGY

Homologene

FAMILY	sodium/potassium/calcium exchanger family
	SLC24A subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	calcium extrusion protein, K dependent (Na+) (Ca2+) exchanger regulating intracellular Ca2+ concentration
	polytopic membrane protein that plays a critical role in Ca(2+) homeostasis in retinal rod and cone photoreceptors
	playing a role in mediating agonist-stimulated [Ca2+]cyt and thereby vascular tone
	probably play a particularly prominent role in regulating Ca2+ flux in environments which experience wide and frequent fluctuations in Na+ concentration
	IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation
	potassium-dependent Na(+)/Ca(2+) exchanger, necessary for rapid response termination and proper adaptation of vertebrate olfactory sensory neurons
	role in shaping olfactory responses, suggesting that rapid response termination and proper adaptation of peripheral sensory receptor cells tune the sensory system for optimal perception
	a key role for SLC24A4 in calcium transport during enamel formation
	essential role for Ca(2+) signaling in the MC4R pathway that leads to satiety, and a non-redundant role for NCKX4-mediated Ca(2+) extrusionrusion in controlling MC4R signaling and feeding behavior

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction between HERC2 and SLC24A4 affecting determination of blue eye colour

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism SNP	associated to eye and hair color

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	olfactory-specific Nckx4(-/-) mice had lower body weights and a reduced ability to locate an odorous source
	Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis