AQP8 (aquaporin 8)

Gene

• 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)

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
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	9806845
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IDA	15948717
GO:0006833	Process	Water transport	IEA
GO:0006833	Process	Water transport	ISS
GO:0006833	Process	Water transport	TAS	9806845
GO:0008519	Function	Ammonium channel activity	IEA
GO:0008519	Function	Ammonium channel activity	ISS
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IDA	15948717
GO:0015250	Function	Water channel activity	IEA
GO:0015250	Function	Water channel activity	IMP	18948439
GO:0015250	Function	Water channel activity	ISS
GO:0015250	Function	Water channel activity	TAS	9806845
GO:0015264	Function	Methylammonium channel activity	IDA	15948717
GO:0015265	Function	Urea channel activity	IEA
GO:0015265	Function	Urea channel activity	ISS
GO:0015267	Function	Channel activity	IEA
GO:0015840	Process	Urea transport	IEA
GO:0015840	Process	Urea transport	ISS
GO:0015843	Process	Methylammonium transport	IDA	15948717
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0019755	Process	One-carbon compound transport	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031966	Component	Mitochondrial membrane	ISS
GO:0035377	Process	Transepithelial water transport	ISS
GO:0045177	Component	Apical part of cell	IDA	12801959
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IMP	30579780
GO:0046691	Component	Intracellular canaliculus	IDA	18948439
GO:0046691	Component	Intracellular canaliculus	IEA
GO:0046691	Component	Intracellular canaliculus	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0071320	Process	Cellular response to cAMP	IEP	17636236
GO:0071918	Process	Urea transmembrane transport	IEA
GO:0072488	Process	Ammonium transmembrane transport	IEA
GO:0072488	Process	Ammonium transmembrane transport	IMP	22622463
GO:0072488	Process	Ammonium transmembrane transport	ISS
GO:0072489	Process	Methylammonium transmembrane transport	IEA
GO:0080170	Process	Hydrogen peroxide transmembrane transport	IEA
GO:0080170	Process	Hydrogen peroxide transmembrane transport	IMP	23541115, 30579780
GO:0080170	Process	Hydrogen peroxide transmembrane transport	ISS
GO:0097708	Component	Intracellular vesicle	IEA
GO:0097708	Component	Intracellular vesicle	ISS
GO:0140157	Process	Ammonium import across plasma membrane	IEA
GO:0140157	Process	Ammonium import across plasma membrane	ISS
GO:1990748	Process	Cellular detoxification	IMP	34292591

Other IDs

• MIM: 603750
• HGNC: 642
• e!Ensembl: ENSG00000103375

Protein

• 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:

  MSGEIAMCEPEFGNDKAREPSVGGRWRVSWYERFVQPCLVELLGSALFIFIGCLSVIENG
  TDTGLLQPALAHGLALGLVIATLGNISGGHFNPAVSLAAMLIGGLNLVMLLPYWVSQLLG
  GMLGAALAKAVSPEERFWNASGAAFVTVQEQGQVAGALVAEIILTTLLALAVCMGAINEK
  TKGPLAPFSIGFAVTVDILAGGPVSGGCMNPARAFGPAVVANHWNFHWIYWLGPLLAGLL
  VGLLIRCFIGDGKTRLILKAR

• Sequence length: 261

Pathways

KEGG:

Bile secretion

Reactome:

Passive transport by Aquaporins

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	31375658		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24055034		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29511597		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25120769	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29511597		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35245343	Stimulate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23679281		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	22901156, 23679281		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	21622200, 25208977		★☆☆☆☆ Found in Text Mining only
Colitis Collagenous	Collagenous colitis	Pubtator	32016376	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	17461471	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23148732, 29511597, 29799470		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11231887, 18776587, 23148732, 29799470, 32462020	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	39201543	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Nephrogenic	Nephrogenic diabetes insipidus	Pubtator	29799470	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25550802	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24055034		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24055034		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33456300	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18467915		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28525373		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	31033595	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27862460, 30581529		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30581529	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30581529	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25120769	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33456300	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29511597		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29511597		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23679281		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22901156, 23679281, 24055034, 29885515		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	29799470		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37378023	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	29607712		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29472315	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23953589, 31258711		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29511597		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21622200		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	28968830		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29678898	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	28968830		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	28968830		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17461471, 23135761, 23595390		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	17461471		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22901156, 25120769, 25124631, 34151838	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervicitis	Uterine Cervicitis	BEFREE	22901156		★☆☆☆☆ Found in Text Mining only
Vipoma	Vipoma	Pubtator	32016376	Associate	★☆☆☆☆ Found in Text Mining only