Slc9a8 solute carrier family 9 (sodium/hydrogen exchanger), member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc9a8provided by MGI
Official Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 8provided by MGI
Primary source: MGI:MGI:1924281
See related: Ensembl:ENSMUSG00000039463 AllianceGenome:MGI:1924281
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NHE8; NHE-8; 1200006P13Rik; 6430709P13Rik
Summary: This gene encodes a member of the Na+/H+ exchanger (NHE) family of integral membrane transporter proteins. The encoded protein is expressed on the apical membrane of the intestinal epithelial cells and plays an important role in mucosal protection. Loss of the encoded protein in mice results in a decrease in the number of goblet and mucin-positive cells, disorganization of the mucin layer, and a decrease in mucosal pH in the colon. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression: Ubiquitous expression in kidney adult (RPKM 45.2), adrenal adult (RPKM 11.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H3; 2 87.22 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (167261678..167318920)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (167421599..167477000)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An indisputable role of NHE8 in mucosal protection.
Title: An indisputable role of NHE8 in mucosal protection.
NHE8 regulates Ca(2+) uptake into the proximal tubule epithelium.
Title: NHE8 attenuates Ca(2+) influx into NRK cells and the proximal tubule epithelium.
NHE8 deficiency resulted in increased Lgr5 expression in the colon.
Title: NHE8 Deficiency Promotes Colitis-Associated Cancer in Mice via Expansion of Lgr5-Expressing Cells.
These results indicate that NHE8 plays essential function in both retinal pigment epithelium (RPE) and photoreceptor cells. NHE8 dysfunction either in photoreceptor or RPE is sufficient to cause retinal degeneration in adult mice at any age.
Title: Essential function of NHE8 in mouse retina demonstrated by AAV-mediated CRISPR/Cas9 knockdown.
work has uncovered a crucial role of NHE8 in acrosome biogenesis and suggests that some forms of human globozoospermia might be caused by a loss of function of this Na(+)/H(+) exchanger.
Title: Loss of the Na(+)/H(+) exchanger NHE8 causes male infertility in mice by disrupting acrosome formation.
NHE8 may be involved in the establishment of intestinal mucosal integrity by regulating the functions of goblet and Paneth cells.
Title: Loss of NHE8 expression impairs intestinal mucosal integrity.
NHE8 function is necessary for the survival of photoreceptor cells and NHE8 is important for RPE cell polarity and function
Title: NHE8 is essential for RPE cell polarity and photoreceptor survival.
The NHE8 protein is required in the RPE to maintain correct regulation of endosomal volume and/or pH which is essential for the cellular integrity and subsequent function of RPE
Title: Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.
Suggest a novel role of NHE8 in male fertility through its effect on modifying luteinizing hormone receptor function.
Title: Disruption of NHE8 expression impairs Leydig cell function in the testes.
Both NHE3 and NHE8 likely play a role in neonatal acidification.
Title: Renal NHE expression and activity in neonatal NHE3- and NHE8-null mice.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2)
Targeted (4) 1 citation
Chemically induced (ENU) (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:224285

BB463934 (e-PCR)
- UniSTS:207448

AI182282 (e-PCR)
- UniSTS:159078

NoName (e-PCR)
- UniSTS:234615

Slc9a8 (e-PCR), detects polymorphism
- UniSTS:546030

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables potassium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium:proton antiporter activity	ISO Inferred from Sequence Orthology more info
enables sodium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:proton antiporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of Golgi lumen acidification	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular pH	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of intracellular pH	ISO Inferred from Sequence Orthology more info
involved_in regulation of pH	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in multivesicular body membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium/hydrogen exchanger 8

Names: Na(+)/H(+) exchanger 8; sodium/proton exchanger NHE8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001304540.1 → NP_001291469.1 sodium/hydrogen exchanger 8 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform c, which has a shorter N-terminus compared to isoform a.

Source sequence(s)

AK049410, AL591762, BC058947

UniProtKB/TrEMBL

Q69ZU9

Related

ENSMUST00000131956.8

Conserved Domains (1) summary

COG0025
Location:21 → 386

NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
NM_001304542.1 → NP_001291471.1 sodium/hydrogen exchanger 8 isoform d

See identical proteins and their annotated locations for NP_001291471.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region and uses an alternate in-frame splice site internally, compared to variant 1. The encoded isoform (d) is shorter, compared to isoform a.

Source sequence(s)

AK051791, AL591762, BC058947

Consensus CDS

CCDS84586.1

UniProtKB/TrEMBL

A2A464, Q69ZU9

Related

ENSMUSP00000104841.2, ENSMUST00000109218.7

Conserved Domains (1) summary

COG0025
Location:57 → 449

NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
NM_148929.3 → NP_683731.1 sodium/hydrogen exchanger 8 isoform a

See identical proteins and their annotated locations for NP_683731.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK049410, AL591762, BC058947

Consensus CDS

CCDS38339.1

UniProtKB/Swiss-Prot

A2A465, Q3UPR4, Q5WA59, Q8BIH8, Q8BJ27, Q8R4D1

UniProtKB/TrEMBL

Q69ZU9

Related

ENSMUSP00000044185.7, ENSMUST00000047815.13

Conserved Domains (1) summary

COG0025
Location:55 → 480

NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]

RNA

NR_130767.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK160826, AL589870, AL591762, BC058947

Related

ENSMUST00000139673.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

167261678..167318920

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162699.1 → XP_036018592.1 sodium/hydrogen exchanger 8 isoform X1

Conserved Domains (1) summary

TIGR00840
Location:59 → 483

b_cpa1; sodium/hydrogen exchanger 3
XM_036162701.1 → XP_036018594.1 sodium/hydrogen exchanger 8 isoform X3

UniProtKB/TrEMBL

Q69ZU9

Conserved Domains (1) summary

TIGR00840
Location:2 → 369

b_cpa1; sodium/hydrogen exchanger 3
XM_036162706.1 → XP_036018599.1 sodium/hydrogen exchanger 8 isoform X6

Conserved Domains (1) summary

TIGR00840
Location:27 → 282

b_cpa1; sodium/hydrogen exchanger 3
XM_036162705.1 → XP_036018598.1 sodium/hydrogen exchanger 8 isoform X5

Conserved Domains (1) summary

TIGR00840
Location:1 → 357

b_cpa1; sodium/hydrogen exchanger 3
XM_036162704.1 → XP_036018597.1 sodium/hydrogen exchanger 8 isoform X5

Conserved Domains (1) summary

TIGR00840
Location:1 → 357

b_cpa1; sodium/hydrogen exchanger 3
XM_036162700.1 → XP_036018593.1 sodium/hydrogen exchanger 8 isoform X2

UniProtKB/TrEMBL

Q69ZU9

Conserved Domains (1) summary

TIGR00840
Location:5 → 429

b_cpa1; sodium/hydrogen exchanger 3
XM_036162707.1 → XP_036018600.1 sodium/hydrogen exchanger 8 isoform X6

Conserved Domains (1) summary

TIGR00840
Location:27 → 282

b_cpa1; sodium/hydrogen exchanger 3
XM_036162702.1 → XP_036018595.1 sodium/hydrogen exchanger 8 isoform X4

Conserved Domains (1) summary

TIGR00840
Location:44 → 429

b_cpa1; sodium/hydrogen exchanger 3
XM_036162708.1 → XP_036018601.1 sodium/hydrogen exchanger 8 isoform X6

Related

ENSMUST00000148454.2

Conserved Domains (1) summary

TIGR00840
Location:27 → 282

b_cpa1; sodium/hydrogen exchanger 3

RNA

XR_001783205.3 RNA Sequence
XR_004940773.1 RNA Sequence
XR_004940774.1 RNA Sequence
XR_004940775.1 RNA Sequence
XR_004940776.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178371.3: Suppressed sequence

Description

NM_178371.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.