SCNN1G

Protein identityUniProt · HPA

UniProt accession

P51170

Gene

SCNN1G

Ensembl

ENSG00000166828

Chromosome

16

Canonical length

649 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Plasma membrane,Primary cilium transition zone

OverviewNCBI Gene

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]

Canonical amino-acid sequenceUniProt

649 residues, UniProt reviewed canonical sequence.

>P51170|SCNN1G
     1  MAPGEKIKAK IKKNLPVTGP QAPTIKELMR WYCLNTNTHG CRRIVVSRGR LRRLLWIGFT
    61  LTAVALILWQ CALLVFSFYT VSVSIKVHFR KLDFPAVTIC NINPYKYSTV RHLLADLEQE
   121  TREALKSLYG FPESRKRREA ESWNSVSEGK QPRFSHRIPL LIFDQDEKGK ARDFFTGRKR
   181  KVGGSIIHKA SNVMHIESKQ VVGFQLCSND TSDCATYTFS SGINAIQEWY KLHYMNIMAQ
   241  VPLEKKINMS YSAEELLVTC FFDGVSCDAR NFTLFHHPMH GNCYTFNNRE NETILSTSMG
   301  GSEYGLQVIL YINEEEYNPF LVSSTGAKVI IHRQDEYPFV EDVGTEIETA MVTSIGMHLT
   361  ESFKLSEPYS QCTEDGSDVP IRNIYNAAYS LQICLHSCFQ TKMVEKCGCA QYSQPLPPAA
   421  NYCNYQQHPN WMYCYYQLHR AFVQEELGCQ SVCKEACSFK EWTLTTSLAQ WPSVVSEKWL
   481  LPVLTWDQGR QVNKKLNKTD LAKLLIFYKD LNQRSIMESP ANSIEMLLSN FGGQLGLWMS
   541  CSVVCVIEII EVFFIDFFSI IARRQWQKAK EWWAWKQAPP CPEAPRSPQG QDNPALDIDD
   601  DLPTFNSALH LPPALGTQVP GTPPPKYNTL RLERAFSNQL TDTQMLDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SCNN1G can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SCNN1G.

Disease | AllUniProt

Conditions SCNN1G is implicated in, by any mechanism.

• Liddle syndrome 2 (LIDLS2) MIM:618114
• Bronchiectasis with or without elevated sweat chloride 3 (BESC3) MIM:613071
• Pseudohypoaldosteronism 1B3, autosomal recessive (PHA1B3) MIM:620126

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 355 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Liddle syndrome 2
• Pseudohypoaldosteronism, type IB3, autosomal recessive
• Bronchiectasis with or without elevated sweat chloride 3
• Pseudohypoaldosteronism, type IB1, autosomal recessive
• SCNN1G-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.41

gnomAD pLI

0.48

gnomAD missense Z

0.56

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to acidic pH
• cellular response to aldosterone
• cellular response to vasopressin
• intracellular sodium ion homeostasis
• multicellular organismal-level water homeostasis
• regulation of blood pressure
• sensory perception of salty taste
• sensory perception of sour taste
• sodium ion homeostasis
• sodium ion import across plasma membrane
• sodium ion transmembrane transport

Molecular functions

• ligand-gated sodium channel activity
• monoatomic ion channel activity
• WW domain binding

Cellular components

• apical plasma membrane
• ciliary transition zone
• external side of plasma membrane
• extracellular exosome
• nucleoplasm
• plasma membrane
• sodium channel complex

Protein domainsUniProt · Pfam · InterPro

• Epithelial sodium channel
• Epithelial sodium channel, chordates
• Epithelial sodium channel, conserved site
• Amiloride-sensitive sodium channel

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Ion channel
• Ion transport
• Membrane
• Phosphoprotein
• Sodium
• Sodium channel
• Sodium transport
• Transmembrane
• Transmembrane helix
• Transport
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SCNN1G in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BPIFA1
• WWP1
• WWP2
• PCSK9