SLC15A2 solute carrier family 15 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC15A2provided by HGNC
Official Full Name: solute carrier family 15 member 2provided by HGNC
Primary source: HGNC:HGNC:10921
See related: Ensembl:ENSG00000163406 MIM:602339; AllianceGenome:HGNC:10921
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: PEPT2
Summary: The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]
Expression: Biased expression in prostate (RPKM 19.8), brain (RPKM 10.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (121894401..121944188)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (124614370..124664153)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (121613248..121663035)

Chromosome 3 - NC_000003.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alternate expression of PEPT1 and PEPT2 in epidermal differentiation is required for NOD2 immune responses by bacteria-derived muramyl dipeptide.
Title: Alternate expression of PEPT1 and PEPT2 in epidermal differentiation is required for NOD2 immune responses by bacteria-derived muramyl dipeptide.
The transporters PEPT2, PHT1, and PHT2 are responsible for the uptake of carnosine into glioblastoma cells and full function of all three transporters is required for maximum uptake.
Title: The proton-coupled oligopeptide transporters PEPT2, PHT1 and PHT2 mediate the uptake of carnosine in glioblastoma cells.
Two novel genes, SLC15A2 (rs1143671 and rs1143672) and SLCO1B3 (rs4149117 and rs7311358), are associated with the warfarin maintenance dose in a Chinese population.
Title: Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population.
PEPT2 is expressed in keratinocytes and involved in skin oligopeptide uptake.
Title: H(+)/peptide transporter (PEPT2) is expressed in human epidermal keratinocytes and is involved in skin oligopeptide transport.
PEPT2 is functionally expressed in H441 cells, making the cell line a good in vitro model to study PEPT2 function and its regulation in human distal lung.
Title: Functional Expression of PEPT2 in the Human Distal Lung Epithelial Cell Line NCl-H441.
In vitro study displayed different response to sorafenib depending on the genotype of SLC15A2.
Title: SLC15A2 genomic variation is associated with the extraordinary response of sorafenib treatment: whole-genome analysis in patients with hepatocellular carcinoma.
This study showed that ALAD2 and hPEPT2*2 may be valuable markers of risk, and indicate novel mechanisms of lead-induced neurotoxicity
Title: δ-Aminolevulinic acid dehydratase single nucleotide polymorphism 2 (ALAD2) and peptide transporter 2*2 haplotype (hPEPT2*2) differently influence neurobehavior in low-level lead exposed children.
OSR1 has the capacity to downregulate the peptide transporters PEPT1 and PEPT2 by decreasing the carrier protein abundance in the cell membrane
Title: Downregulation of peptide transporters PEPT1 and PEPT2 by oxidative stress responsive kinase OSR1.
JAK3 is a powerful regulator of the peptide transporters PEPT1 and PEPT2.
Title: Effect of Janus kinase 3 on the peptide transporters PEPT1 and PEPT2.
LNCaP expresses high levels of PEPT2 and PHT1.
Title: Expression profile and functional activity of peptide transporters in prostate cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12677 (e-PCR)
- UniSTS:19507

G38154 (e-PCR)
- UniSTS:53341

D1S1423 (e-PCR)
- UniSTS:149619

D3S3498 (e-PCR)
- UniSTS:74119

SHGC-147851 (e-PCR)
- UniSTS:176050

SHGC-77261 (e-PCR)
- UniSTS:63155

SHGC-155332 (e-PCR)
- UniSTS:183745

SHGC-63664 (e-PCR)
- UniSTS:70892

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dipeptide transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables dipeptide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide:proton symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide:proton symporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tripeptide transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in antibacterial innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in dipeptide import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in dipeptide import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in dipeptide transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in peptidoglycan transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in tripeptide import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in xenobiotic detoxification by transmembrane export across the plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic transport	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	RCA inferred from Reviewed Computational Analysis more info	PubMed
is_active_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	IC Inferred by Curator more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: solute carrier family 15 member 2

Names: kidney H(+)/peptide cotransporter; peptide transporter 2; solute carrier family 15 (H+/peptide transporter), member 2; solute carrier family 15 (oligopeptide transporter), 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_001145998.2 → NP_001139470.1 solute carrier family 15 member 2 isoform b

See identical proteins and their annotated locations for NP_001139470.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AC072031

Consensus CDS

CCDS54631.1

UniProtKB/TrEMBL

B4DXJ3

Related

ENSP00000295605.2, ENST00000295605.6

Conserved Domains (2) summary

TIGR00926
Location:58 → 665

2A1704; Peptide:H+ symporter (also transports b-lactam antibiotics, the antitumor agent, bestatin, and various protease inhibitors)

pfam00854
Location:114 → 450

PTR2; POT family
NM_021082.4 → NP_066568.3 solute carrier family 15 member 2 isoform a

See identical proteins and their annotated locations for NP_066568.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC072031

Consensus CDS

CCDS3007.1

UniProtKB/Swiss-Prot

A8K1A5, B4E2A7, Q16348

UniProtKB/TrEMBL

Q86UE9

Related

ENSP00000417085.1, ENST00000489711.6

Conserved Domains (1) summary

TIGR00926
Location:58 → 696

2A1704; Peptide:H+ symporter (also transports b-lactam antibiotics, the antitumor agent, bestatin, and various protease inhibitors)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

121894401..121944188

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005247722.4 → XP_005247779.1 solute carrier family 15 member 2 isoform X1

UniProtKB/TrEMBL

Q86UE9

Conserved Domains (2) summary

TIGR00926
Location:58 → 661

2A1704; Peptide:H+ symporter (also transports b-lactam antibiotics, the antitumor agent, bestatin, and various protease inhibitors)

pfam00854
Location:111 → 481

PTR2; POT family
XM_006713736.4 → XP_006713799.1 solute carrier family 15 member 2 isoform X2

Conserved Domains (1) summary

pfam00854
Location:111 → 481

PTR2; POT family