Slc9a9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc9a9provided by MGI
Official Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 9provided by MGI
Primary source: MGI:MGI:2679732
See related: Ensembl:ENSMUSG00000031129 AllianceGenome:MGI:2679732
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nhe9; 9930105B05; 5730527A11Rik
Summary: Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in potassium ion transmembrane transport; regulation of intracellular pH; and sodium ion import across plasma membrane. Predicted to act upstream of or within ion transport. Predicted to be located in endosome and membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane and recycling endosome. Is expressed in several structures, including ear; hemolymphoid system; nervous system; tail somite; and urinary system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human SLC9A9 (solute carrier family 9 member A9). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 14.4), frontal lobe adult (RPKM 5.0) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E3.3; 9 49.22 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (94551945..95112505)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (94669557..95230453)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Inactivation of NHE9 in mice reproduces behavioral features of autism spectrum disorders including impaired social interaction, repetitive behaviors, and altered sensory processing.
Title: A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry.
This is the first animal behavior study that links Slc9a9 to Autism spectrum disorders.
Title: Autism spectrum disorder traits in Slc9a9 knock-out mice.
Loss-of-function mutations in NHE9 may contribute to autistic phenotype by modulating synaptic membrane protein expression and neurotransmitter clearance.
Title: Functional evaluation of autism-associated mutations in NHE9.
NHE9/Slc9a9 is expressed in the inner ear
Title: Vestibular hair bundles control pH with (Na+, K+)/H+ exchangers NHE6 and NHE9.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (5) 1 citation

General gene information

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Markers

AI854429 (e-PCR)
- UniSTS:164413

G67038 (e-PCR)
- UniSTS:178245

MPC1452 (e-PCR)
- UniSTS:131661

D9Mit112.1 (e-PCR), detects polymorphism
- UniSTS:131662

44.MMHAP64FRG11.seq (e-PCR)
- UniSTS:124543

BB209181 (e-PCR)
- UniSTS:207294

RH140366 (e-PCR)
- UniSTS:222442

Slc9a9 (e-PCR), detects polymorphism
- UniSTS:546031

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	IDA Inferred from Direct Assay more info	PubMed
enables sodium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
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 phagosome maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation 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 import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early phagosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
located_in recycling endosome membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium/hydrogen exchanger 9

Names: Na(+)/H(+) exchanger 9; solute carrier family 9 member 9

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.