Slc4a2 solute carrier family 4 (anion exchanger), member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc4a2provided by MGI
Official Full Name: solute carrier family 4 (anion exchanger), member 2provided by MGI
Primary source: MGI:MGI:109351
See related: Ensembl:ENSMUSG00000028962 AllianceGenome:MGI:109351
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: Ae2; B3RP
Summary: Enables chloride:bicarbonate antiporter activity. Involved in several processes, including amelogenesis; negative regulation of CD8-positive, alpha-beta T cell activation; and positive regulation of enamel mineralization. Located in basolateral plasma membrane. Is expressed in brain; cornea; and testis. Human ortholog(s) of this gene implicated in osteopetrosis. Orthologous to human SLC4A2 (solute carrier family 4 member 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in stomach adult (RPKM 54.7), colon adult (RPKM 48.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A3; 5 11.74 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (24628834..24645945)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (24423761..24440947)

Chromosome 5 - NC_000071.7 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?

SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.
Title: SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.
Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO3(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2.
Title: Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO(3)(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2.
results strongly suggest that Ae2 is a critical factor in the innate response to C. albicans. This study represents an important contribution to a better understanding of how Dectin-1 expression and fungal clearance is regulated.
Title: Anion Exchanger 2 Regulates Dectin-1-Dependent Phagocytosis and Killing of Candida albicans.
Data indicate a key functional role of anion exchanger 2 (AE2) in the maintenance of the normal physiology of biliary epithelial cells (BEC) and the pathogenic consequences of reduced AE2 expression, including abnormal intrinsic characteristics of BEC and their production of signal molecules that lead to the chronic inflammatory responses in small bile ducts.
Title: Hydrophobic bile acids suppress expression of AE2 in biliary epithelial cells and induce bile duct inflammation in primary biliary cholangitis.
AE2 deficiency results in intrahepatic T-cell activation and PD-1/PD-L1 mediated deletion, favoring autoimmune cholangitis.
Title: CD8+ T cells undergo activation and programmed death-1 repression in the liver of aged Ae2a,b-/- mice favoring autoimmune cholangitis.
GnRH neurons were immunopositive for NKCC1 and AE2.
Title: Chloride Accumulators NKCC1 and AE2 in Mouse GnRH Neurons: Implications for GABAA Mediated Excitation.
These findings demonstrate that CD8(+) T cells are critically dependent on Ae2 for pHi homeostasis and tuning of cell proliferation and activation. Ae2 thus constitutes a novel target to modulate CD8(+) T-cell responses.
Title: Anion exchanger 2 is critical for CD8(+) T cells to maintain pHi homeostasis and modulate immune responses.
Rescue of SLC4A2-deficient osteoclasts with functionally defined mutants of SLC4A2 indicates regulation of actin cytoskeletal reorganization by anion-exchange activity and intracellular pH, independent of SLC4A2's long N-terminal cytoplasmic domain.
Title: SLC4A2-mediated Cl-/HCO3- exchange activity is essential for calpain-dependent regulation of the actin cytoskeleton in osteoclasts.
expression of Slc4a2 significantly decreased in enamel organs from Mmp20(-/-) mice. A feedback mechanism regulates ion-responsive gene expression during enamel development.
Title: Altered ion-responsive gene expression in Mmp20 null mice.
AE2 is a component of the basolateral ion transport mechanisms that support anion secretion in the proximal colon.
Title: AE2 Cl-/HCO3- exchanger is required for normal cAMP-stimulated anion secretion in murine proximal colon.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc4a2 (e-PCR), detects polymorphism
- UniSTS:547349

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chloride transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride:bicarbonate antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride:bicarbonate antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chloride:bicarbonate antiporter activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of CD8-positive, alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of CD8-positive, alpha-beta T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoclast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of enamel mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular pH	ISO Inferred from Sequence Orthology more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: anion exchange protein 2

Names: AE 2; anion exchanger 2 type b1; anion exchanger 2 type b2; anion exchanger 2 type c1; anion exchanger 2 type c2; band 3-related protein; non-erythroid band 3-like protein; solute carrier family 4 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.

mRNA and Protein(s)

NM_001253892.1 → NP_001240821.1 anion exchange protein 2 isoform 1

See identical proteins and their annotated locations for NP_001240821.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK145930, BC054102

Consensus CDS

CCDS19119.1

UniProtKB/Swiss-Prot

P13808, Q9ES09, Q9ES10, Q9ES11, Q9ES12, Q9ES13

UniProtKB/TrEMBL

A0A0R4J101, Q3UKP0, Q7TPS4

Conserved Domains (2) summary

PTZ00449
Location:3 → 321

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

TIGR00834
Location:320 → 1236

ae; anion exchange protein
NM_001421407.1 → NP_001408336.1 anion exchange protein 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC113055, AC120353

UniProtKB/Swiss-Prot

P13808, Q9ES09, Q9ES10, Q9ES11, Q9ES12, Q9ES13

UniProtKB/TrEMBL

A0A0R4J101, Q3UKP0, Q7TPS4
NM_001421408.1 → NP_001408337.1 anion exchange protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC113055, AC120353

UniProtKB/Swiss-Prot

P13808, Q9ES09, Q9ES10, Q9ES11, Q9ES12, Q9ES13

UniProtKB/TrEMBL

Q3UKP0, Q7TPS4
NM_001421409.1 → NP_001408338.1 anion exchange protein 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC120353

UniProtKB/Swiss-Prot

P13808, Q9ES09, Q9ES10, Q9ES11, Q9ES12, Q9ES13

UniProtKB/TrEMBL

A0A0R4J1K9, Q3UKP0, Q7TPS4

Related

ENSMUSP00000110701.3, ENSMUST00000115049.9
NM_009207.3 → NP_033233.2 anion exchange protein 2 isoform 1

See identical proteins and their annotated locations for NP_033233.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) and variant 2 encode the same protein.

Source sequence(s)

AK145930, BC054102, CJ110714

Consensus CDS

CCDS19119.1

UniProtKB/Swiss-Prot

P13808, Q9ES09, Q9ES10, Q9ES11, Q9ES12, Q9ES13

UniProtKB/TrEMBL

A0A0R4J101, Q3UKP0, Q7TPS4

Related

ENSMUSP00000078972.7, ENSMUST00000080067.13

Conserved Domains (2) summary

PTZ00449
Location:3 → 321

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

TIGR00834
Location:320 → 1236

ae; anion exchange protein