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

    Gene ID: 8170, updated on 27-Nov-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
    mouse all
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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
    • 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)

    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

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