AQP8 (aquaporin 8)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
343
Gene name Gene Name - the full gene name approved by the HGNC.
Aquaporin 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AQP8
Synonyms (NCBI Gene) Gene synonyms aliases
AQP-8
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603750 642 ENSG00000103375
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease 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