SLC14A2 (solute carrier family 14 member 2)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8170 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Solute carrier family 14 member 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SLC14A2 |
SynonymsGene synonyms aliases
|
HUT2, UT-A2, UT2, UTA, UTR, hUT-A6 |
ChromosomeChromosome number
|
18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
18q12.3 |
SummarySummary of gene provided in NCBI Entrez 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 m |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q15849 |
Protein name |
Urea transporter 2 (Solute carrier family 14 member 2) (Urea transporter, kidney) |
Protein function |
[Isoform 1]: Mediates the transport of urea driven by a concentration gradient across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism. {ECO:0000269|PubMed:11502588, ECO:0000 |
PDB |
8BLO
,
8XD7
,
8XD9
,
8XDA
,
8XDB
,
8XDC
,
8XDD
,
8XDE
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03253 |
UT |
119 → 414 |
Urea transporter |
Family |
PF03253 |
UT |
581 → 876 |
Urea transporter |
Family |
|
Sequence |
|
Sequence length |
920 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 |
29059683 |
Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
|
28196072 |
Alopecia, male pattern |
Alopecia, Male Pattern |
|
22693459, 29146897, 27182965 |
Androgenetic alopecia |
Androgenetic Alopecia, Alopecia, Androgenetic, 3, Alopecia, Androgenetic, 2, Alopecia, Androgenetic, 1 |
|
29146897, 27182965, 22693459, 22693459, 27182965, 29146897, 27182965, 22693459, 29146897 |
B-cell neoplasm |
Mature B-Cell Neoplasm |
|
25279986 |
|
|
|