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AQP3 (aquaporin 3 (Gill blood group))

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
360
Gene nameGene Name - the full gene name approved by the HGNC.
Aquaporin 3 (Gill blood group)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AQP3
SynonymsGene synonyms aliases
AQP-3, GIL
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting d
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1347380973 C>G,T Affects Splice donor variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040256 hsa-miR-615-3p CLASH 23622248
MIRT053376 hsa-miR-874-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23800944
MIRT053376 hsa-miR-874-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23800944
MIRT053376 hsa-miR-874-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23800944
MIRT053376 hsa-miR-874-3p Luciferase reporter assay, qRT-PCR, Western blot 24462679
Transcription factors
Transcription factor Regulation Reference
CREB1 Unknown 18495115
TP53 Unknown 11231003
TP73 Unknown 11231003
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002684 Process Positive regulation of immune system process IDA 17943189
GO:0003091 Process Renal water homeostasis TAS
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 18718702, 19545896
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q92482
Protein name Aquaporin-3 (AQP-3) (Aquaglyceroporin-3)
Protein function Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:12239222, PubMed:30420639). Could also be permea
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP
16 261
Major intrinsic protein
Family
Sequence
Sequence length 292
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.
 
KEGG
 
Reactome
  Vasopressin-regulated water reabsorption   Vasopressin regulates renal water homeostasis via Aquaporins
Passive transport by Aquaporins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 21401805
Esophagus neoplasm Esophageal Neoplasms, Malignant neoplasm of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 21401805
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393 18214481
Unknown
Disease name Disease term dbSNP ID References
Urinary bladder cancer Malignant neoplasm of urinary bladder 22306368
Bladder neoplasm Bladder Neoplasm 22306368
Lymphatic metastasis Lymphatic Metastasis 21401805
Malignant neoplasm of tongue Malignant neoplasm of tongue 21401805

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