SLC14A2: Urea Transporter UT-A2
Solute Carrier Family 14 Member 2 (Urea Transporter, Kidd Blood Group)
Gene Information Card
| Symbol | SLC14A2 |
|---|---|
| Full Name | Solute Carrier Family 14 Member 2 (Urea Transporter) |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.3 |
| NCBI Gene ID | 8170 ncbi.nlm.nih.gov/gene/8170 |
| Ensembl ID | ENSG00000141447 |
| UniProt ID | Q15849 |
| OMIM ID | 601611 |
| HGNC ID | 10921 |
| Aliases | UT-A2, HUT11, JK, Kidd antigen |
Description
SLC14A2 encodes the urea transporter UT-A2, a transmembrane protein that facilitates the passive transport of urea across cell membranes. It is primarily expressed in the kidney (inner medullary collecting duct) and erythrocytes, where it plays a critical role in urine concentration and urea recycling. The gene also determines the Kidd (JK) blood group system; null alleles result in the Jk(a-b-) phenotype.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kidd blood group phenotype (Jk(a-b-)) | Loss of functional UT-A2 on erythrocytes due to SLC14A2 null mutations | ClinVar, OMIM |
| Urea transporter deficiency | Impaired renal urea concentration ability, mild polyuria | OMIM, PubMed |
| Hemolytic transfusion reaction | Anti-Jk antibodies in Jk(a-b-) individuals cause delayed hemolytic reactions | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Erythrocytes | N/A (nTPM not applicable) | High (protein level) |
| Testis | 3.2 | Low |
| Bone marrow | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low endogenous expression |
| MDCK | 2.1 | Moderate (canine kidney) |
| K562 | 0.8 | Low (erythroleukemia) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.838G>A (p.Gly280Arg) | Missense | Rare | Loss of urea transport activity |
| c.130G>A (p.Glu44Lys) | Missense | Rare | Associated with Jk(a-b-) phenotype |
| c.956C>T (p.Pro319Leu) | Missense | Rare | Reduced urea permeability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly280Arg) disrupt urea transport, leading to Jk(a-b-) phenotype and mild renal concentrating defect.
Gain of Function (GOF)
Not reported for SLC14A2.
Dominant Negative (DN)
Not reported; recessive inheritance pattern observed.
View complete mutation data：
Gene Ontology (GO)
| • urea transmembrane transporter activity (GO:0015204) | • urea transport (GO:0015840) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
Pathways
• Urea cycle and metabolism of arginine
• proline
• glutamate
• aspartate and asparagine (Reactome: R-HSA-70635)
• Transport of urea (Reactome: R-HSA-425374)
Protein Summary
UT-A2 is a 920-amino acid transmembrane protein with 10-12 membrane-spanning domains. It forms a channel that selectively facilitates urea diffusion. In the kidney, it is expressed in the inner medullary collecting duct and contributes to the countercurrent multiplier system for urine concentration. On erythrocytes, UT-A2 carries the Kidd blood group antigens (Jka and Jkb).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC14A2 Knockout HEK293 Cell Line | EDJ-KQ6180 | Human | 8170 | Details Get a Quote |
| SLC14A2 Knockout HeLa Cell Line | EDJ-KQ54828 | Human | 8170 | Details Get a Quote |
| SLC14A2 Knockout A-549 Cell Line | EDJ-KQ63319 | Human | 8170 | Details Get a Quote |
| SLC14A2 Knockout HCT 116 Cell Line | EDJ-KQ71789 | Human | 8170 | Details Get a Quote |
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