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SLC14A2 solute carrier family 14 member 2 [ Homo sapiens (human) ]

Gene ID: 8170, updated on 28-Oct-2024

Summary

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Official Symbol
SLC14A2provided by HGNC
Official Full Name
solute carrier family 14 member 2provided by HGNC
Primary source
HGNC:HGNC:10919
See related
Ensembl:ENSG00000132874 MIM:601611; AllianceGenome:HGNC:10919
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
UT2; UTA; UTR; HUT2; UT-A2; hUT-A6
Summary
The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Biased expression in kidney (RPKM 2.6), fat (RPKM 1.3) and 7 other tissues See more
Orthologs
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Genomic context

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See SLC14A2 in Genome Data Viewer
Location:
18q12.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45167963..45683688)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (45359240..45874622)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (42747928..43263653)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene SET binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:42588617-42589118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:42589119-42589618 Neighboring gene microRNA 4319 Neighboring gene uncharacterized LOC105372091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13260 Neighboring gene uncharacterized LOC101927961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13261 Neighboring gene NANOG hESC enhancer GRCh37_chr18:42915554-42916119 Neighboring gene VISTA enhancer hs1363 Neighboring gene SLC14A2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9415 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:42982182-42983381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13262 Neighboring gene VISTA enhancer hs1464 Neighboring gene VISTA enhancer hs1440 Neighboring gene uncharacterized LOC105372093 Neighboring gene uncharacterized LOC105372092 Neighboring gene solute carrier family 14 member 1 (Kidd blood group)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. 97- and 117-kDa forms of collecting duct urea transporter UT-A1 are due to different states of glycosylation. Bradford AD, et al. Am J Physiol Renal Physiol, 2001 Jul. PMID 11399654
  2. Cloning and characterization of the human urea transporter UT-A1 and mapping of the human Slc14a2 gene. Bagnasco SM, et al. Am J Physiol Renal Physiol, 2001 Sep. PMID 11502588
  3. Genetic variation in the human urea transporter-2 is associated with variation in blood pressure. Ranade K, et al. Hum Mol Genet, 2001 Sep 15. PMID 11590132
  4. Biochemical properties of urea transporters. Chen G. Subcell Biochem, 2014. PMID 25298341
  5. Expression of urea transporters and their regulation. Klein JD. Subcell Biochem, 2014. PMID 25298340

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The urea transporter subtypes, UT-A1 and UT-B1, were expressed in the skin basal cell layer and exocrine sweat glands. The abundance of UT-A1 and UT-B1 in uremic sweat glands was significantly increased in UP, while the expression of AQP5 was decreased.
    Title: The Expression of AQP5 and UTs in the Sweat Glands of Uremic Patients.
  2. UT2 is a negative regulator shared across STAT3 and mTORC2 signaling cascades, functioning as a tumor suppressor in hematologic malignancies driven by those pathways.
    Title: Endogenous transmembrane protein UT2 inhibits pSTAT3 and suppresses hematological malignancy.
  3. Studies indicate that the cell signaling pathway for vasopressin-mediated urea transporters phosphorylation and activity involves two cAMP-dependent signaling pathways.
    Title: Biochemical properties of urea transporters.
  4. Studies indicate that osmotic diuresis, where urea concentrations are low, can prompt an increase in urea transporter abundance.
    Title: Expression of urea transporters and their regulation.
  5. Studies indicate that the urea transporter SLC14a2, the UT-A group, was originally isolated from kidney inner medulla.
    Title: Genes and proteins of urea transporters.
  6. HUT2 gene may play a certain role in developing metabolic syndrome and its related traits in Asian population.
    Title: Genetic variants of human urea transporter-2 are associated with metabolic syndrome in Asian population.
  7. 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.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of biochemical traits in Korcula Island, Croatia.
  9. Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Genetic polymorphisms of the urea transporter gene are associated with antihypertensive response to nifedipine GITS.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants of human urea transporter-2 are associated with metabolic syndrome in Asian population.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
EBI GWAS Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16167, MGC119566, MGC119567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cell adhesion molecule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables urea transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables urea transmembrane transporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in urea transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in urea transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in urea transport TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
urea transporter 2
Names
solute carrier family 14 (urea transporter), member 2
urea transporter, kidney

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_001242692.2 → NP_001229621.1  urea transporter 2

    See identical proteins and their annotated locations for NP_001229621.1

    Status: VALIDATED

    Source sequence(s)
    AC023421, AF349446, AK292422, BC110445, BC110446, DR002593, X96969
    Consensus CDS
    CCDS11924.1
    UniProtKB/Swiss-Prot
    A8K8Q7, Q15849, Q2TBD6, Q96PH5
    Related
    ENSP00000465953.1, ENST00000586448.5
    Conserved Domains (1) summary
    pfam03253
    Location:581 → 866
    UT; Urea transporter

  2. NM_001371319.1 → NP_001358248.1  urea transporter 2

    Status: VALIDATED

    Source sequence(s)
    AC023421, AC090376, AF349446, AK122698, BC110445, BC110446, DR002593, X96969
    Consensus CDS
    CCDS11924.1
    UniProtKB/Swiss-Prot
    A8K8Q7, Q15849, Q2TBD6, Q96PH5
    Conserved Domains (1) summary
    pfam03253
    Location:581 → 866
    UT; Urea transporter

  3. NM_007163.4 → NP_009094.3  urea transporter 2

    See identical proteins and their annotated locations for NP_009094.3

    Status: VALIDATED

    Source sequence(s)
    AC023421, AF349446, BC110445, BC110446, DR002593, X96969
    Consensus CDS
    CCDS11924.1
    UniProtKB/Swiss-Prot
    A8K8Q7, Q15849, Q2TBD6, Q96PH5
    Related
    ENSP00000255226.5, ENST00000255226.11
    Conserved Domains (1) summary
    pfam03253
    Location:581 → 866
    UT; Urea transporter

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

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    45167963..45683688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451270.2 → XP_024307038.1  urea transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K8Q7, Q15849, Q2TBD6, Q96PH5
    Conserved Domains (1) summary
    pfam03253
    Location:581 → 866
    UT; Urea transporter

  2. XM_017026016.3 → XP_016881505.1  urea transporter 2 isoform X2

    Conserved Domains (1) summary
    cl01829
    Location:534 → 828
    UT; Urea transporter

  3. XM_047437875.1 → XP_047293831.1  urea transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K8Q7, Q15849, Q2TBD6, Q96PH5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    45359240..45874622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319232.1 → XP_054175207.1  urea transporter 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15849.3 GenPept UniProtKB/Swiss-Prot:Q15849

Gene LinkOut

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