1. Gene
  2. AQP8 - aquaporin 8 Gene

AQP8 - aquaporin 8 Gene

Homo sapiens

Also known as AQP-8

Gene ID: 343 | Gene type: protein coding

About AQP8

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:25,216,947-25,228,932 (from NCBI)

This gene has 2 transcripts (splice variants), 201 orthologues and 11 paralogues. Restricted expression toward colon (RPKM 257.9).

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, Jul 2008]

AQP8 Products(1)

mRNA Protein Name
NM_001169.3 NP_001160.2 aquaporin-8
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables methylammonium channel activity IDA
IDA: Inferred from direct assay
15948717 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables water channel activity IDA
IDA: Inferred from direct assay
15948717 GOA
enables water channel activity IMP
IMP: Inferred from mutant phenotype
18948439 GOA
Biological Process GO Annotation Evidence Reference Source
involved in ammonium transmembrane transport IMP
IMP: Inferred from mutant phenotype
22622463 GOA
involved in cellular detoxification IMP
IMP: Inferred from mutant phenotype
34292591 GOA
involved in cellular response to cAMP IEP
IEP: Inferred from expression pattern
17636236 GOA
involved in hydrogen peroxide transmembrane transport IMP
IMP: Inferred from mutant phenotype
23541115 GOA
involved in methylammonium transport IDA
IDA: Inferred from direct assay
15948717 GOA
involved in regulation of cholesterol biosynthetic process IMP
IMP: Inferred from mutant phenotype
30579780 GOA
involved in water transport IDA
IDA: Inferred from direct assay
15948717 GOA
Cellular Component GO Annotation Evidence Reference Source
located in apical part of cell IDA
IDA: Inferred from direct assay
12801959 GOA
located in intracellular canaliculus IDA
IDA: Inferred from direct assay
18948439 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
22622463 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AQP8 Protein Structure

MIP

MIP: Major intrinsic protein (33 - 243)

  • 0
  • 100
  • 200
  • 261 a.a.
Protein Preferred Names Protein Names

aquaporin-8

Related Diseases

Diseases Alias
Polyhydramnios
Palmoplantar Keratoderma, Bothnian Type

PPKB

Diffuse Palmoplantar Keratoderma, Bothnian Type

Bothnian Type Palmoplantar Keratoderma

Keratoderma, Palmoplantar, Bothnian Type

Palmoplantar Keratoderma, Nonepidermolytic

Crohn'S Colitis

Crohn Disease

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris AQP8 VGNC VGNC:38020
Felis catus AQP8 VGNC VGNC:67985
Macaca mulatta AQP8 VGNC VGNC:69995
Bos taurus AQP8 VGNC VGNC:26050
Mus musculus AQP8 MGD MGI:1195271
Rattus norvegicus AQP8 RGD RGD:2146