Scnn1a MGI Mouse Gene Detail - MGI:101782 - sodium channel, nonvoltage-gated 1 alpha

Symbol

Scnn1a
Name

sodium channel, nonvoltage-gated 1 alpha
Synonyms

ENaC alpha, mENaC, Scnn1

Feature Type

protein coding gene
IDs

MGI:101782
NCBI Gene: 20276
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr6:125297622-125321906 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 59.32 cM
Mapping Data

5 experiments

SNPs within 2kb

728 from dbSNP Build 142
Strain Annotations

18
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_101782	protein coding gene	Chr6:125286657-125321906 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031295	protein coding gene	Chr6:128670346-128694096 (+)
A/J	MGP_AJ_G0031266	protein coding gene	Chr6:123809498-123833505 (+)
AKR/J	MGP_AKRJ_G0031194	protein coding gene	Chr6:127184807-127208138 (+)
BALB/cJ	MGP_BALBcJ_G0031273	protein coding gene	Chr6:123404633-123427968 (+)
C3H/HeJ	MGP_C3HHeJ_G0030997	protein coding gene	Chr6:127259697-127283046 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031730	protein coding gene	Chr6:132069853-132094394 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028879	protein coding gene	Chr6:121018854-121043396 (+)
CAST/EiJ	MGP_CASTEiJ_G0030378	protein coding gene	Chr6:127476215-127500057 (+)
CBA/J	MGP_CBAJ_G0030958	protein coding gene	Chr6:137110908-137137307 (+)
DBA/2J	MGP_DBA2J_G0031114	protein coding gene	Chr6:122736291-122759839 (+)
FVB/NJ	MGP_FVBNJ_G0031063	protein coding gene	Chr6:121651644-121674985 (+)
LP/J	MGP_LPJ_G0031194	protein coding gene	Chr6:128829133-128852496 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031102	protein coding gene	Chr6:141149032-141173633 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031765	protein coding gene	Chr6:127095921-127121435 (+)
PWK/PhJ	MGP_PWKPhJ_G0030093	protein coding gene	Chr6:120984973-121009568 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029922	protein coding gene	Chr6:125173558-125197658 (+)
WSB/EiJ	MGP_WSBEiJ_G0030463	protein coding gene	Chr6:127471233-127496184 (+)

Human Ortholog

SCNN1A, sodium channel epithelial 1 subunit alpha

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SCNN1A, sodium channel epithelial 1 subunit alpha
Synonyms

BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1
Links

HGNC:10599

NCBI Gene ID: 6337

neXtProt AC: NX_P37088

UniProt: P37088
Chr Location

12p13.31; chr12:6346843-6377730 (-) GRCh38

MGI Vertebrate Homology

Scnn1a stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: SCNN1A
Gene Tree

Scnn1a

Diseases

3 with human SCNN1A associations

				Human Disease	Mouse Models
				bronchiectasis 2 IDs bronchiectasis 2 DOID:0080527 OMIM:613021
				Liddle syndrome IDs Liddle syndrome DOID:0050477 MESH:D056929 NCI:C84827 OMIM:177200 UMLS_CUI:C0221043
				pseudohypoaldosteronism IDs pseudohypoaldosteronism DOID:4479 MESH:D011546 NCI:C85034 UMLS_CUI:C0033805

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

8 phenotypes from 4 alleles in 3 genetic backgrounds
11 phenotypes from multigenic genotypes
37 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

3
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

28 strains or lines available
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid.

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All GO Annotations

71
GO References

18

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

806
Tissues

29
cDNA Data

33
Literature Summary

19

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase scnn1a

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All Sequences

64
RefSeq

12
UniProt

8
CCDS

CCDS39641.2

Ensembl

ENSMUSG00000030340 (Evidence)
NCBI Gene

20276

			Length	Strain/Species	Flank
genomic	ENSMUSG00000030340	Ensembl Gene Model \| MGI Sequence Detail	24285	C57BL/6J	± kb
transcript	ENSMUST00000081440	Ensembl \| MGI Sequence Detail	3499	Not Applicable
polypeptide	ENSMUSP00000080164	Ensembl \| MGI Sequence Detail	699	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000014527 amiloride-sensitive sodium channel subunit alpha

(term hierarchy)
InterPro Domains

IPR001873 Epithelial sodium channel

IPR004724 Epithelial sodium channel, chordates

IPR020903 Epithelial sodium channel, conserved site

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All nucleic 40

cDNA 35

Primer pair 4

Other 1

Microarray probesets 3

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MGD-MRK-18590, MGD-MRK-18754

Summaries

All 154

Developmental Gene Expression 19

Diseases 1

Gene Ontology 18

Phenotypes 37
Earliest

J:21472 Meisler MH, et al., SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12. Genomics. 1994 Nov 1;24(1):185-6
Latest

J:344094 Ehret E, et al., Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity. Cells. 2023 Sep 23;12(19)

TSS for Scnn1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr58952	Chr6:125297596-125297602 (+)	-23 bp
Tssr58953	Chr6:125298186-125298200 (+)	571 bp
Tssr58954	Chr6:125298221-125298236 (+)	607 bp
Tssr58955	Chr6:125298296-125298323 (+)	688 bp
Tssr58956	Chr6:125298353-125298369 (+)	739 bp
Tssr58957	Chr6:125298372-125298383 (+)	756 bp
Tssr2018	Chr6:125298775-125298796 (+)	1,164 bp
Tssr58958	Chr6:125298821-125298832 (+)	1,205 bp
Tssr58959	Chr6:125299842-125299855 (+)	2,227 bp
Tssr58960	Chr6:125299869-125299876 (+)	2,251 bp
Tssr58961	Chr6:125314757-125314776 (+)	17,145 bp
Tssr2019	Chr6:125314822-125314831 (+)	17,205 bp
Tssr58962	Chr6:125319466-125319481 (+)	21,852 bp
Tssr58963	Chr6:125319491-125319508 (+)	21,878 bp
Tssr58964	Chr6:125319725-125319736 (+)	22,109 bp
Tssr58965	Chr6:125319742-125319782 (+)	22,140 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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