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

Gene ID: 8170, updated on 23-Nov-2021

Summary

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
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

See SLC14A2 in Genome Data Viewer
Location:
18q12.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (45167963..45683688)
105.20201022 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 microRNA 4319 Neighboring gene uncharacterized LOC105372091 Neighboring gene uncharacterized LOC101927961 Neighboring gene VISTA enhancer hs1363 Neighboring gene SLC14A2 antisense RNA 1 Neighboring gene VISTA enhancer hs1464 Neighboring gene VISTA enhancer hs1440 Neighboring gene uncharacterized LOC107985153 Neighboring gene uncharacterized LOC105372093 Neighboring gene uncharacterized LOC105372092 Neighboring gene solute carrier family 14 member 1 (Kidd blood group)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
GeneReviews: Not available
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
PubMed 
involved_in urea transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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_001242692.2NP_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
    Q15849
    Related
    ENSP00000465953.1, ENST00000586448.5
    Conserved Domains (1) summary
    pfam03253
    Location:581866
    UT; Urea transporter
  2. NM_001371319.1NP_001358248.1  urea transporter 2

    Status: VALIDATED

    Source sequence(s)
    AC023421, AC090376, AF349446, AK122698, BC110445, BC110446, DR002593, X96969
    Conserved Domains (1) summary
    pfam03253
    Location:581866
    UT; Urea transporter
  3. NM_007163.4NP_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
    Q15849
    Related
    ENSP00000255226.5, ENST00000255226.11
    Conserved Domains (1) summary
    pfam03253
    Location:581866
    UT; Urea transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam03253
    Location:581866
    UT; Urea transporter
  2. XM_017026016.2XP_016881505.1  urea transporter 2 isoform X2

    Conserved Domains (1) summary
    cl01829
    Location:534828
    UT; Urea transporter
  3. XM_024451271.1XP_024307039.1  urea transporter 2 isoform X1

    Conserved Domains (1) summary
    pfam03253
    Location:581866
    UT; Urea transporter
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