SLC9A2 solute carrier family 9 member A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC9A2provided by HGNC
Official Full Name: solute carrier family 9 member A2provided by HGNC
Primary source: HGNC:HGNC:11072
See related: Ensembl:ENSG00000115616 MIM:600530; AllianceGenome:HGNC:11072
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NHE2
Summary: This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]
Expression: Biased expression in stomach (RPKM 13.9), colon (RPKM 13.0) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q12.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (102619553..102711355)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (103078521..103170032)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (103236012..103327814)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and Validation of SLC9A2 as A Potential Tumor Suppressor in Colorectal Cancer: Integrating Bioinformatics Analysis with Experimental Confirmation.
Title: Identification and Validation of SLC9A2 as A Potential Tumor Suppressor in Colorectal Cancer: Integrating Bioinformatics Analysis with Experimental Confirmation.
zDHHC3-mediated S-palmitoylation of SLC9A2 regulates apoptosis in kidney clear cell carcinoma.
Title: zDHHC3-mediated S-palmitoylation of SLC9A2 regulates apoptosis in kidney clear cell carcinoma.
Functional characterization of the sodium/hydrogen exchanger 8 and its role in proliferation of colonic epithelial cells.
Title: Functional characterization of the sodium/hydrogen exchanger 8 and its role in proliferation of colonic epithelial cells.
Differentiated Caco-2BBe cells display particularly high mRNA expression levels of NHE2, which can be functionally identified in the apical membrane. Although at low intracellular pH, NHE2 transport rate was far lower than that of NHE1. NHE2 activity was nevertheless essential for the maintenance of the steady-state pHi of these cells.
Title: Expression, Localization and Functional Activity of the Major Na⁺/H⁺ Exchange Isoforms Expressed in the Intestinal Cell Line Caco-2BBe.
Studies show that phosphorylation of the NHE3 at a single amino acid in the distal part of the C-terminus affects multiple aspects of NHE3 complex formation and changes the NHE3 lipid raft distribution, which cause changes in specific aspects of basal as well as acutely stimulated and inhibited Na(+)/H(+) exchange activity.
Title: Phosphorylation of NHE3-S(719) regulates NHE3 activity through the formation of multiple signaling complexes.
These data indicate that the acid-dependent NHE2 stimulation is implemented by transcriptional upregulation of NHE2 via acid-induced Egr-1 in the intestinal epithelial cells.
Title: Extracellular acidosis stimulates NHE2 expression through activation of transcription factor Egr-1 in the intestinal epithelial cells.
Phosphorylation of nPKC-delta results in activation of ERK1/2 kinase and subsequent induction of Egr-1. Subsequently, Egr-1 directly targets NHE2 promoter and promotes NHE2 transcriptional upregulation by interaction with NHE2-PMA response element.
Title: PKCδ-dependent activation of ERK1/2 leads to upregulation of the human NHE2 transcriptional activity in intestinal epithelial cell line C2BBe1.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The functional and molecular expression of NHEs in cultured human endolymphatic sac (ES) epithelial cells was determined and the effect of IFN-gamma on NHE function, was examined.
Title: Interferon-gamma suppresses Na+ -H+ exchanger in cultured human endolymphatic sac epithelial cells.
Report morphological adaptation with preserved proliferation/NHE2 content in the colon of patients with short bowel syndrome.
Title: Morphological adaptation with preserved proliferation/transporter content in the colon of patients with short bowel syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	EIPA, a potent and specific inhibitor of Na+/H+ exchanger activity, significantly inhibits the Nef internalization into M2-macrophages, indicating that Nef is imported by Na+/H+ exchanger (solute carrier family 9, subfamily A)	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables potassium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:proton antiporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
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 sodium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium/hydrogen exchanger 2

Names: Na(+)/H(+) exchanger 2; solute carrier family 9 (sodium/hydrogen exchanger), member 2; solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2

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.

Genomic

NG_050930.1 RefSeqGene

Range

5020..96822

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003048.6 → NP_003039.2 sodium/hydrogen exchanger 2 precursor

See identical proteins and their annotated locations for NP_003039.2

Status: REVIEWED

Source sequence(s)

AA843986, AC007239, AF273748, BC035787, BC136377

Consensus CDS

CCDS2062.1

UniProtKB/Swiss-Prot

B2RMS2, Q9UBY0

Related

ENSP00000233969.2, ENST00000233969.3

Conserved Domains (3) summary

TIGR00840
Location:74 → 630

b_cpa1; sodium/hydrogen exchanger 3

pfam00999
Location:84 → 484

Na_H_Exchanger; Sodium/hydrogen exchanger family

pfam16644
Location:579 → 684

NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin