AQP12A (aquaporin 12A)

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Gene Gene information from NCBI Gene database.
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Entrez ID 375318
Gene name Aquaporin 12A
Gene symbol AQP12A
Synonyms (NCBI Gene)
AQP-12AQP12AQPX2
Chromosome 2
Chromosome location 2q37.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
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GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0006833 Process Water transport IEA
GO:0015250 Function Water channel activity IEA
GO:0015267 Function Channel activity IBA
GO:0015267 Function Channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
609789 19941 ENSG00000184945
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IXF9
Protein name Putative aquaporin-12A (AQP-12)
Protein function Putative aquaporin. Could form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 52 → 238 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Restricted to the pancreas. {ECO:0000269|Ref.2}.
Sequence 
MAGLNVSLSFFFATFALCEAARRASKALLPVGAYEVFAREAMRTLVELGPWAGDFGPDLL
LTLLFLLFLAHGVTLDGASANPTVSLQEFLMAEQSLPGTLLKLAAQGLGMQAACTLMRLC
WAWELSDLHLLQSLMAQSCSSALRTSVPHGALVEAACAFCFHLTLLHLRHSPPAYSGPAV
ALLVTVTAYTAGPFTSAFFNPALAASVTFACSGHTLLEYVQVYWLGPLTGMVLAVLLHQG
RLPHLFQRNLFYGQKNKYRAPRGKPAPASGDTQTPAKGSSVREPGRSGVEGPHSS
Sequence length 295
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Passive transport by Aquaporins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Colorectal cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35245343, 36254092 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 20106632
★★★★★
★☆☆☆☆
Found in Text Mining only
Steatohepatitis Fatty Liver BEFREE 28584298
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 20106632
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for AQP12A.

No additional diseases found yet through genes similar to AQP12A.