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FLASH GENE

Symbol

SCNN1G

contributors: mct - updated : 19-04-2017

HGNC name	sodium channel, nonvoltage-gated 1, gamma
HGNC id	10602

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	34.16 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001039 13 - 3516 NP_001030 74.14 649 - Waldmann (1995)

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 Digestive intestine large intestine colon     Reproductive female system uterus         female system breast mammary gland     Urinary kidney tubule collecting duct   highly urinary kidney nephron distal convoluted tubule

cells

System Cell Pubmed Species Stage Rna symbol   epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	(at least) two membrane spanning segments
	several glycosylation and a nucleotide binding sites
	a N terminal cluster of negatively charged AA
	a C terminal cluster of positively charged AA, forming a cytosolic domain reactive at the plasma membrane
	a conserved proline-rich aminoacid sequence (PY motif, inhibiting Na+ absorption by interacting with NEDD4

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY	degenerin/ENaC superfamily
	amiloride-sensitive cation channels

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	gated in the luminal membrane of the collecting tubule of kidney, apical membrane

basic FUNCTION	epithelial amiloride-sensitive sodium channel,non-voltage
	mediating renal reabsorption of sodium in the distal tubule

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

a component

component of a heterotetramer including two SCNN1A, and one SCNN1B and one SCNN1G

INTERACTION

DNA

RNA

small molecule

protein	NEDD4 binding
	PCSK9 inhibits ENaC (SCNN1A, SCNN1B, SCNN1G) current by reducing the number of channels at the cell surface

cell & other

REGULATION

Other

regulated by aldosterone

ASSOCIATED DISORDERS

corresponding disease(s)

PHA1A1 , PSALD

Susceptibility

Variant & Polymorphism

Candidate gene	could be a modifier gene in cystic fibrosis
Marker
Therapy target

ANIMAL & CELL MODELS