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FLASH GENE

Symbol

SLC6A2

contributors: mct - updated : 14-09-2011

HGNC name	solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
HGNC id	11048

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	50.56 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	functional polymorphism -3081(T) significantly decreases promoter function compared with the A allele( creating a new E2-box consensus motif interacting with transcriptional repressors SNAI2, SCRT1, SCRT2 in a sequence- specific manner)
	downstream of the C-terminal exon 14 of the human noradrenaline transporter (hNAT) gene reveals 5 consensus polyadenylation signals, several adenylate/uridylate-rich elements (AREs) and a new C-terminal exon, designated as exon 15 ( )

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001172501 15 - 3837 - 617 - 1998 9655936 NM_001043 14 - 3551 - 617 - 1998 9655936 NM_001172504 14 - 2858 - 628 - 1998 9655936 NM_001172502 - - 3157 - 512 - 1998 9655936

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

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 Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve transmembrane segments (12TM)
	N- and C-terminal ends facing the cytoplasmic side

HOMOLOGY

Homologene

FAMILY	sodium neurotransmitter symporter (SNF) family
	Na+- and Cl--dependent neurotransmitter transporter family SLC6

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	expressed on the plasma membranes of noradrenergic neurons
	is also localized in raft-rich membrane domains, and this localization is dynamically regulated by kinases

basic FUNCTION	Na+ (and Cl-) dependent plasma membrane transporter
	terminating the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals
	mediating reuptake of norepinephrine released from neurons, and, as such, important regulator of noradrenergic neurotransmission
	regulates both neurotransmission and homeostasis of norepinephrine in the nervous system
	MAOA, SLC6A2, SLC6A3 may play important roles in regulating maternal monoamine neurotransmitters transferred across the placenta to the fetus
	important in terminating neurotransmission
	SLC6A3, SLC6A2, SLC6A4 facilitate the homeostatic balance of neurotransmitters in the synaptic cleft and thus, play a fundamental role in regulating neuronal activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

TACR1 forms physical complexes with SLC6A2

INTERACTION

DNA

RNA

small molecule

protein	PRKCABP
	MAOA in anorexia nervosa
	interacting with SMARCA2 and MECP2 (increased SLC6A2 gene expression in response to membrane depolarization was strongly correlated with the dissociation of MECP2 and SMARCA2 complex on the unmethylated gene)
	TACR1 mediates down-regulation of SLC6A2 via protein kinase C (PKC)

cell & other

target of psychotropic substances, such as tricyclic antidepressants and the drug of abuse, cocaine

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to orthostatic intolerance anorexia nervosa to attention-deficit hyperactivity disorder (ADHD)

Variant & Polymorphism other	A457P associated with orthostatic intolerance
	-3081(A/T) polymorphism associated to attention-deficit hyperactivity disorder (ADHD)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	loss of SLc6a2 function during embryonic development in the mouse deregulates signaling pathways that are critically involved in neural crest formation and noradrenergic cell differentiation