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SLC9A4 solute carrier family 9 member A4 [ Homo sapiens (human) ]

Gene ID: 389015, updated on 22-Sep-2022

Summary

Official Symbol
SLC9A4provided by HGNC
Official Full Name
solute carrier family 9 member A4provided by HGNC
Primary source
HGNC:HGNC:11077
See related
Ensembl:ENSG00000180251 MIM:600531; AllianceGenome:HGNC:11077
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NHE4
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 epithelial cell development and gastric acid secretion. Predicted to be located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and vacuolar membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach (RPKM 24.9) and kidney (RPKM 5.2) See more
Orthologs
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Genomic context

See SLC9A4 in Genome Data Viewer
Location:
2q12.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (102473226..102533972)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (102932202..102992943)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (103089685..103150431)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5 Neighboring gene interleukin 18 receptor accessory protein Neighboring gene microRNA 4772 Neighboring gene solute carrier family 9 member A2 Neighboring gene uncharacterized LOC124905954 Neighboring gene major facilitator superfamily domain containing 9

Genomic regions, transcripts, and products

Bibliography

Phenotypes

EBI GWAS Catalog

Description
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
EBI GWAS Catalog
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
EBI GWAS Catalog
Newly identified genetic risk variants for celiac disease related to the immune response.
EBI GWAS Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp313B031

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables potassium:proton antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sodium:proton antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sodium:proton antiporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in gastric acid secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in glandular epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
involved_in response to salt stress IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in vacuolar membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sodium/hydrogen exchanger 4
Names
NHE-4
Na(+)/H(+) exchanger 4
solute carrier family 9 (sodium/hydrogen exchanger), member 4
solute carrier family 9 member 4
solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4

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)

  1. NM_001011552.4NP_001011552.2  sodium/hydrogen exchanger 4 precursor

    See identical proteins and their annotated locations for NP_001011552.2

    Status: VALIDATED

    Source sequence(s)
    AC007278, AL833048, CR627411, DA442134
    Consensus CDS
    CCDS33264.1
    UniProtKB/Swiss-Prot
    Q69YK0, Q6AI14
    Related
    ENSP00000295269.4, ENST00000295269.5
    Conserved Domains (3) summary
    TIGR00840
    Location:63621
    b_cpa1; sodium/hydrogen exchanger 3
    pfam00999
    Location:73476
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam16644
    Location:569675
    NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    102473226..102533972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511158.2XP_011509460.1  sodium/hydrogen exchanger 4 isoform X1

    Conserved Domains (3) summary
    TIGR00840
    Location:63592
    b_cpa1; sodium/hydrogen exchanger 3
    pfam00999
    Location:73447
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam16644
    Location:540646
    NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    102932202..102992943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)