AQP8 (aquaporin 8)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 343
Gene name Aquaporin 8
Gene symbol AQP8
Synonyms (NCBI Gene)
AQP-8
Chromosome 16
Chromosome location 16p12.1
Summary Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, J
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (65)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS
GO:0005743 Component Mitochondrial inner membrane IDA 22622463, 34292591
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603750 642 ENSG00000103375
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94778
Protein name Aquaporin-8 (AQP-8)
Protein function Channel that allows the facilitated permeation of water and uncharged molecules, such as hydrogen peroxide and the neutral form of ammonia (NH3), through cellular membranes such as plasma membrane, inner mitochondrial membrane and endoplasmic re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 29 → 245 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in the sperm midpiece (at protein level) (PubMed:28042826). Expressed only in pancreas and colon. {ECO:0000269|PubMed:28042826}.
Sequence
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Bile secretion   Passive transport by Aquaporins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs149824781 RCV005928817
Thyroid cancer, nonmedullary, 1 Benign rs74644224 RCV005910116
Uterine corpus endometrial carcinoma Benign rs74644224 RCV005910117
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 25120769
Carcinoma Renal Cell Stimulate 35245343
Colitis Collagenous Associate 32016376
Colitis Ulcerative Stimulate 17461471
Colorectal Neoplasms Associate 11231887, 18776587, 23148732, 29799470, 32462020
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 32016376
Crohn Disease Associate 39201543
Diabetes Insipidus Nephrogenic Associate 29799470
Esophageal Neoplasms Associate 25550802
Hyperglycemic Hyperosmolar Nonketotic Coma Stimulate 25878490, 33456300