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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
  • HUT2 3 4
  • UT2 3 4
  • Urea Transporter 2 3
  • 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. Diseases associated with SLC14A2 include Rectal Neoplasm and Anus Cancer. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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

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

Genomics for SLC14A2 Gene

Regulatory Elements for SLC14A2 Gene

Enhancers for SLC14A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC14A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC14A2 Gene

Chromosome:
18
Start:
45,212,957 bp from pter
End:
45,683,686 bp from pter
Size:
470,730 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

Protein Domains for SLC14A2 Gene

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

GENATLAS Biochemistry:
solute carrier family (urea transport),member 2,expressed in kidney
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.

Gene Ontology (GO) - Molecular Function for SLC14A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015204 urea transmembrane transporter activity IEA,TAS --
GO:0015265 urea channel activity IBA --
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

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for SLC14A2 Gene COMPARTMENTS Subcellular localization image for SLC14A2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
peroxisome 1

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 --
GO:0016020 membrane TAS 8647271
GO:0016021 integral component of membrane TAS 8647271
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC14A2: view

Pathways & Interactions for SLC14A2 Gene

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

Interacting Proteins for SLC14A2 Gene

Gene Ontology (GO) - Biological Process for SLC14A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009414 response to water deprivation IEA --
GO:0015840 urea transport IEA,TAS 8647271
GO:0055085 transmembrane transport TAS --
GO:0071918 urea transmembrane transport IEA --
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 Pharma Transporter, substrate 0
Nifedipine Approved Pharma Antagonist, Gating inhibitor 109
genes like me logo Genes that share compounds with SLC14A2: view

Transcripts for SLC14A2 Gene

mRNA/cDNA for SLC14A2 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC14A2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with SLC14A2: view

Primer Products

Orthologs for SLC14A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC14A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC14A2 34
  • 87.25 (n)
  • 86.85 (a)
SLC14A2 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC14A2 34
  • 87.9 (n)
  • 88.48 (a)
SLC14A2 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc14a2 34
  • 85.33 (n)
  • 85.43 (a)
Slc14a2 16
Slc14a2 35
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC14A2 34
  • 98.98 (n)
  • 98.8 (a)
SLC14A2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc14a2 34
  • 85.33 (n)
  • 85.98 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC14A2 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC14A2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC14A2 34
  • 66 (n)
  • 65.05 (a)
SLC14A2 35
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc14a2 34
  • 63.79 (n)
  • 63.23 (a)
wufe01a06 34
slc14a2 35
  • 46 (a)
OneToMany
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)

Paralogs for SLC14A2 Gene

Paralogs for SLC14A2 Gene

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

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 Sequence Context AA Info Type
rs3745009 - 45,682,394(-) GATGG(C/T)GGGGT reference, missense
rs34461862 - 45,624,774(+) GGATA(C/T)TCACC reference, missense
rs35245152 - 45,644,136(+) AAAGC(A/G)GTGAA reference, missense
rs1123617 - 45,672,918(-) TCCAA(C/T)GGGGA reference, missense
rs1484873 - 45,627,020(+) TGTTC(A/G)TCAAC reference, missense

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)

Relevant External Links for SLC14A2 Gene

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

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

Disorders for SLC14A2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC14A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rectal neoplasm
  • neoplasm of rectum
anus cancer
  • anal cancer
rectum adenocarcinoma
  • adenocarcinoma of rectum
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC14A2

Genetic Association Database (GAD)
SLC14A2
Human Genome Epidemiology (HuGE) Navigator
SLC14A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC14A2
genes like me logo Genes that share disorders with SLC14A2: view

No data available for 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. (Hum. Mol. Genet. 2001) 3 22 46 65
  2. Molecular characterization of a new urea transporter in the human kidney. (PMID: 8647271) Olives B. … Bailly P. (FEBS Lett. 1996) 2 3 4 65
  3. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PMID: 21909109) Kim Y.J. … Cho Y.S. (Nat. Genet. 2011) 3 46 65
  4. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y. … Kamatani N. (Nat. Genet. 2010) 3 46 65
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65

Products for SLC14A2 Gene

Sources for SLC14A2 Gene

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