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Aliases for SLC14A2 Gene

Aliases for SLC14A2 Gene

  • Solute Carrier Family 14 Member 2 2 3 4 5
  • Solute Carrier Family 14 (Urea Transporter), Member 2 2 3
  • Urea Transporter, Kidney 3 4
  • Urea Transporter 2 3 4
  • HUT2 3 4
  • UT2 3 4
  • HUT-A6 3
  • UT-A2 3
  • UTA 3
  • UTR 3

External Ids for SLC14A2 Gene

Previous GeneCards Identifiers for SLC14A2 Gene

  • GC18P043517
  • GC18P042991
  • GC18P041456
  • GC18P041446
  • GC18P041448
  • GC18P043194
  • GC18P040052
  • GC18P042747
  • GC18P042792

Summaries for SLC14A2 Gene

Entrez Gene Summary for SLC14A2 Gene

  • 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]

GeneCards Summary for SLC14A2 Gene

SLC14A2 (Solute Carrier Family 14 Member 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include cell adhesion molecule binding and urea transmembrane transporter activity. An important paralog of this gene is SLC14A1.

UniProtKB/Swiss-Prot for SLC14A2 Gene

  • Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism.

Gene Wiki entry for SLC14A2 Gene

Additional gene information for SLC14A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC14A2 Gene

Genomics for SLC14A2 Gene

GeneHancer (GH) Regulatory Elements for SLC14A2 Gene

Promoters and enhancers for SLC14A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J045212 Enhancer 1 Ensembl ENCODE 600.7 -0.1 -56 0.6 CTCF ZSCAN21 YY1 SP7 MLLT1 ZNF644 RAD21 ZNF143 REST TRIM22 SLC14A2 SETBP1 LOC101927961
GH18J045203 Promoter 0.5 EPDnew 600.4 -9.9 -9913 0.1 SLC14A2 LOC101927961
GH18J045565 Enhancer 0.8 Ensembl ENCODE 11.1 +353.7 353745 2.6 NCOA3 PKNOX1 ZSCAN4 MNT FOS ZFP91 ADNP ZMYM3 KLF1 SLC14A2 GC18M045568 GC18M045496
GH18J045997 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 4.4 +785.5 785538 2.3 CBFA2T2 SMARCA4 IKZF1 HDAC1 EP300 CTBP1 ZNF766 NCOR1 SKIL EBF1 EPG5 HAUS1 SLC14A2 RNF165 RN7SKP26 LOC100422497 PSTPIP2
GH18J045641 Enhancer 0.2 Ensembl 5.7 +428.6 428644 1.2 SLC14A2 ENSG00000266968 GC18P045609
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC14A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC14A2 gene promoter:
  • aMEF-2
  • HFH-1
  • Max1
  • MEF-2
  • MEF-2A
  • Pax-2
  • Pax-2a
  • STAT3
  • XBP-1

Genomic Locations for SLC14A2 Gene

Genomic Locations for SLC14A2 Gene
chr18:45,212,957-45,683,686
(GRCh38/hg38)
Size:
470,730 bases
Orientation:
Plus strand
chr18:42,792,947-43,263,072
(GRCh37/hg19)
Size:
470,126 bases
Orientation:
Plus strand

Genomic View for SLC14A2 Gene

Genes around SLC14A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC14A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC14A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC14A2 Gene

Proteins for SLC14A2 Gene

  • Protein details for SLC14A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15849-UT2_HUMAN
    Recommended name:
    Urea transporter 2
    Protein Accession:
    Q15849
    Secondary Accessions:
    • A8K8Q7
    • Q2TBD6
    • Q96PH5

    Protein attributes for SLC14A2 Gene

    Size:
    920 amino acids
    Molecular mass:
    101209 Da
    Quaternary structure:
    • Isoform 1 interacts with SNAPIN which may be important for recruitment to the plasma membrane.

    Alternative splice isoforms for SLC14A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC14A2 Gene

Post-translational modifications for SLC14A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC14A2 Gene

No data available for DME Specific Peptides for SLC14A2 Gene

Domains & Families for SLC14A2 Gene

Gene Families for SLC14A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC14A2 Gene

Suggested Antigen Peptide Sequences for SLC14A2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ23656 fis, clone COLF1004, highly similar to Mus musculus urea transporter isoform UTA-3 mRNA (Q8TEC4_HUMAN)
  • Urea transporter, kidney (UT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15849

UniProtKB/Swiss-Prot:

UT2_HUMAN :
  • Belongs to the urea transporter family.
Family:
  • Belongs to the urea transporter family.
genes like me logo Genes that share domains with SLC14A2: view

Function for SLC14A2 Gene

Molecular function for SLC14A2 Gene

UniProtKB/Swiss-Prot Function:
Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism.
UniProtKB/Swiss-Prot Induction:
Isoform 1 is induced by low protein in the diet. Isoform 2 is induced by dehydration.
GENATLAS Biochemistry:
solute carrier family (urea transport),member 2,expressed in kidney

Phenotypes From GWAS Catalog for SLC14A2 Gene

Gene Ontology (GO) - Molecular Function for SLC14A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015204 urea transmembrane transporter activity IEA,TAS 8647271
GO:0015265 urea channel activity IBA 21873635
GO:0050839 cell adhesion molecule binding IDA 23620790
genes like me logo Genes that share ontologies with SLC14A2: view
genes like me logo Genes that share phenotypes with SLC14A2: view

Animal Models for SLC14A2 Gene

MGI Knock Outs for SLC14A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC14A2

CRISPR Products

miRNA for SLC14A2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC14A2

Clone Products

  • Applied Biological Materials (abm): Clones for SLC14A2 - Now 50% OFF >
  • * SLC14A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC14A2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC14A2 Gene

Localization for SLC14A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC14A2 Gene

Apical cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC14A2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC14A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane TAS,IEA 8647271
GO:0016021 integral component of membrane IEA,TAS 8647271
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC14A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC14A2 Gene

Pathways & Interactions for SLC14A2 Gene

genes like me logo Genes that share pathways with SLC14A2: view

Gene Ontology (GO) - Biological Process for SLC14A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015840 urea transport IBA,TAS 21873635
GO:0055085 transmembrane transport TAS --
GO:0071918 urea transmembrane transport IEA,IBA 21873635
genes like me logo Genes that share ontologies with SLC14A2: view

No data available for SIGNOR curated interactions for SLC14A2 Gene

Drugs & Compounds for SLC14A2 Gene

(2) Drugs for SLC14A2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urea Approved, Investigational Pharma Transporter, substrate 0
Nifedipine Approved Pharma Gating inhibitor, Channel blocker, Antagonist, Pore Blocker, Agonist, Activator 135
genes like me logo Genes that share compounds with SLC14A2: view

Transcripts for SLC14A2 Gene

mRNA/cDNA for SLC14A2 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SLC14A2 Gene

Solute carrier family 14 (urea transporter), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC14A2

Clone Products

  • Applied Biological Materials (abm): Clones for SLC14A2 - Now 50% OFF >
  • * SLC14A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC14A2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SLC14A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: -
SP2: -
SP3:

Relevant External Links for SLC14A2 Gene

GeneLoc Exon Structure for
SLC14A2
ECgene alternative splicing isoforms for
SLC14A2

Expression for SLC14A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC14A2 Gene

mRNA differential expression in normal tissues according to GTEx for SLC14A2 Gene

This gene is overexpressed in Adrenal Gland (x11.3), Kidney - Cortex (x5.6), and Adipose - Visceral (Omentum) (x4.7).

Protein differential expression in normal tissues from HIPED for SLC14A2 Gene

This gene is overexpressed in Bone (34.1), Plasma (27.7), and Liver (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC14A2 Gene



Protein tissue co-expression partners for SLC14A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC14A2 Gene:

SLC14A2

SOURCE GeneReport for Unigene cluster for SLC14A2 Gene:

Hs.710927

mRNA Expression by UniProt/SwissProt for SLC14A2 Gene:

Q15849-UT2_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in the inner medulla of the kidney.

Evidence on tissue expression from TISSUES for SLC14A2 Gene

  • Kidney(4.5)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SLC14A2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC14A2 Gene

Orthologs for SLC14A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC14A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC14A2 35 34
  • 98.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC14A2 35 34
  • 87.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC14A2 35 34
  • 87.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc14a2 17 35 34
  • 85.33 (n)
rat
(Rattus norvegicus)
Mammalia Slc14a2 34
  • 85.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC14A2 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC14A2 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC14A2 35 34
  • 66 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc14a2 35 34
  • 63.79 (n)
OneToMany
wufe01a06 34
Species where no ortholog for SLC14A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC14A2 Gene

ENSEMBL:
Gene Tree for SLC14A2 (if available)
TreeFam:
Gene Tree for SLC14A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC14A2: view image

Paralogs for SLC14A2 Gene

Paralogs for SLC14A2 Gene

(5) SIMAP similar genes for SLC14A2 Gene using alignment to 3 proteins:

  • UT2_HUMAN
  • E7EPU1_HUMAN
  • Q8TEC4_HUMAN
genes like me logo Genes that share paralogs with SLC14A2: view

Variants for SLC14A2 Gene

Sequence variations from dbSNP and Humsavar for SLC14A2 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000004871 -- 45,524,307(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000006994 -- 45,296,450(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000008899 -- 45,650,712(+) A/T intron_variant
rs1000013901 -- 45,436,460(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000025666 -- 45,218,700(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC14A2 Gene

Variant ID Type Subtype PubMed ID
dgv1590n106 CNV deletion 24896259
dgv5915n54 CNV loss 21841781
esv1524268 CNV deletion 17803354
esv1664752 CNV deletion 17803354
esv2073991 CNV deletion 18987734
esv2393030 CNV deletion 18987734
esv2457646 CNV deletion 19546169
esv2508453 CNV deletion 19546169
esv2593617 CNV deletion 19546169
esv26245 CNV loss 19812545
esv2656213 CNV loss 23635498
esv2656309 CNV loss 23635498
esv2660868 CNV deletion 23128226
esv2661309 CNV deletion 23128226
esv2717022 CNV deletion 23290073
esv2717023 CNV deletion 23290073
esv2717024 CNV deletion 23290073
esv2717025 CNV deletion 23290073
esv275024 CNV gain+loss 21479260
esv28429 CNV loss 19812545
esv3150 CNV loss 18987735
esv3555307 CNV deletion 23714750
esv3555310 CNV deletion 23714750
esv3583036 CNV loss 25503493
esv3642406 CNV loss 21293372
esv3642407 CNV loss 21293372
esv3642408 CNV loss 21293372
esv3642409 CNV loss 21293372
esv3642410 CNV loss 21293372
esv3893100 CNV gain 25118596
esv8679 CNV loss 19470904
esv988746 CNV deletion 20482838
esv991584 CNV deletion 20482838
nsv1061120 CNV loss 25217958
nsv1070599 CNV deletion 25765185
nsv1071846 CNV deletion 25765185
nsv1123175 CNV deletion 24896259
nsv1148300 CNV deletion 26484159
nsv132183 CNV deletion 16902084
nsv2275 CNV deletion 18451855
nsv476303 CNV novel sequence insertion 20440878
nsv512530 CNV loss 21212237
nsv518479 CNV loss 19592680
nsv523238 CNV gain 19592680
nsv525268 CNV gain 19592680
nsv576804 CNV loss 21841781
nsv576806 CNV loss 21841781
nsv576807 CNV loss 21841781
nsv576809 CNV loss 21841781
nsv828221 CNV loss 20364138
nsv833638 CNV gain 17160897
nsv954114 CNV deletion 24416366
nsv954933 CNV deletion 24416366
nsv954950 CNV deletion 24416366

Variation tolerance for SLC14A2 Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.02; 98.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC14A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC14A2
Human Gene Mutation Database (HGMD)
SLC14A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC14A2 Gene

Disorders for SLC14A2 Gene

Additional Disease Information for SLC14A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SLC14A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC14A2 Gene

Publications for SLC14A2 Gene

  1. Genetic variation in the human urea transporter-2 is associated with variation in blood pressure. (PMID: 11590132) Ranade K … Botstein D (Human molecular genetics 2001) 3 23 45 58
  2. Molecular characterization of a new urea transporter in the human kidney. (PMID: 8647271) Olivès B … Bailly P (FEBS letters 1996) 2 3 4 58
  3. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PMID: 21909109) Kim YJ … Cho YS (Nature genetics 2011) 3 45 58
  4. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 45 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 58

Products for SLC14A2 Gene

Sources for SLC14A2 Gene

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