SLC5A12 solute carrier family 5 member 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC5A12provided by HGNC
Official Full Name: solute carrier family 5 member 12provided by HGNC
Primary source: HGNC:HGNC:28750
See related: Ensembl:ENSG00000148942 MIM:612455; AllianceGenome:HGNC:28750
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: SMCT2
Summary: Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]
Expression: Restricted expression toward kidney (RPKM 72.2) See more
Orthologs: mouse all
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Genomic context

Location:: 11p14.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (26667020..26723389, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (26807576..26862868, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (26688567..26743607, complement)

Chromosome 11 - NC_000011.10 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
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?

Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring.
Title: Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring.
Results indicate that the SMCT1-PDZK1 interaction thus plays an important role in both lactate handling as well as urate reabsorption in the human kidney.
Title: Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium-coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12).
low-affinity transporter SMCT2 initiates lactate absorption in the early parts of the proximal tubule followed by the participation of the high-affinity transporter SMCT1 in the latter parts of the proximal tubule.
Title: Cloning and functional characterization of human SMCT2 (SLC5A12) and expression pattern of the transporter in kidney.

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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)

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 lactate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables monocarboxylate:sodium symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables organic acid:sodium symporter activity	TAS Traceable Author Statement more info
enables symporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lactate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in monocarboxylic acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-coupled monocarboxylate transporter 2

Names: electroneutral sodium monocarboxylate cotransporter; low-affinity sodium-lactate cotransporter; sodium-iodide related cotransporter; solute carrier family 5 (sodium/glucose cotransporter), member 12; solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12

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_178498.4 → NP_848593.2 sodium-coupled monocarboxylate transporter 2

See identical proteins and their annotated locations for NP_848593.2

Status: VALIDATED

Source sequence(s)

AC083755, AW614338, AY299482, BM924715, CN370367, CR747563

Consensus CDS

CCDS7860.2

UniProtKB/Swiss-Prot

Q1EHB4, Q86UC7

Related

ENSP00000379326.3, ENST00000396005.8

Conserved Domains (1) summary

cd11520
Location:3 → 527

SLC5sbd_SMCT2; Na(+)/monocarboxylate cotransporter SMCT2 and related proteins; solute-binding domain

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

26667020..26723389 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519920.3 → XP_011518222.1 sodium-coupled monocarboxylate transporter 2 isoform X3

Conserved Domains (1) summary

cl00456
Location:1 → 339

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_006718155.4 → XP_006718218.1 sodium-coupled monocarboxylate transporter 2 isoform X1

Conserved Domains (1) summary

cl00456
Location:2 → 416

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_017017244.2 → XP_016872733.1 sodium-coupled monocarboxylate transporter 2 isoform X3

Conserved Domains (1) summary

cl00456
Location:1 → 339

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_047426454.1 → XP_047282410.1 sodium-coupled monocarboxylate transporter 2 isoform X2
XM_006718156.4 → XP_006718219.1 sodium-coupled monocarboxylate transporter 2 isoform X4

Conserved Domains (1) summary

cl00456
Location:3 → 407

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_011519921.3 → XP_011518223.1 sodium-coupled monocarboxylate transporter 2 isoform X5

Related

ENSP00000280467.6, ENST00000280467.10

Conserved Domains (1) summary

cl00456
Location:3 → 385

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

26807576..26862868 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367820.1 → XP_054223795.1 sodium-coupled monocarboxylate transporter 2 isoform X1
XM_054367822.1 → XP_054223797.1 sodium-coupled monocarboxylate transporter 2 isoform X3
XM_054367823.1 → XP_054223798.1 sodium-coupled monocarboxylate transporter 2 isoform X3
XM_054367821.1 → XP_054223796.1 sodium-coupled monocarboxylate transporter 2 isoform X2
XM_054367824.1 → XP_054223799.1 sodium-coupled monocarboxylate transporter 2 isoform X4
XM_054367825.1 → XP_054223800.1 sodium-coupled monocarboxylate transporter 2 isoform X5