AQP3 - aquaporin 3 (Gill blood group) Gene

Homo sapiens

Also known as GIL; AQP-3

Gene ID: 360 | Gene type: protein coding

About AQP3

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,441,160-33,447,593 (from NCBI)

This gene has 7 transcripts (splice variants), 265 orthologues, 11 paralogues and is associated with 1 phenotype. Biased expression in esophagus (RPKM 430.5), skin (RPKM 178.1) and 9 other tissues.

Summary

This gene encodes the water channel protein Aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as Aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, Aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

AQP3 Products(2)

mRNA	Protein	Name
NM_001318144.2	NP_001305073.1	aquaporin-3 isoform 2
NM_004925.5	NP_004916.1	aquaporin-3 isoform 1

AQP3 Protein Structure

MIP

0
100
200
292 a.a.

Protein Preferred Names

Protein Names

aquaporin-3

aquaglyceroporin-3

Related Diseases

Diseases

Alias

Acrokeratoderma, Hereditary Papulotranslucent

Hereditary Papulotranslucent Acrokeratoderma

Oligohydramnios

Oligohydramnios - Delivered	Antepartum Oligohydramnios
Delivered Oligohydramnios	Oligohydramnios, Antepartum Condition Or Complication
Deficient Liquor	Oligohydramnios, Unspecified Trimester
Reduced Liquor Volume

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

Diabetes Insipidus

Polyhydramnios

Constipation

Hydrarthrosis

Pompholyx

Dyshidrosis	Vesicular Eczema Of Hands And/Or Feet
Cheiropompholyx	Dyshydrotic Eczema
Eczema, Dyshidrotic	Vesicular Hand Eczema

X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Gestational Diabetes Insipidus

Transient Diabetes Insipidus Of Pregnancy	Diabetes Insipidus Gestational
Gestagenic Diabetes Insipidus	Doid:0081057

Adrenal Gland Pheochromocytoma

Pheochromocytoma

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Lung Cancer Susceptibility 3

Lung Adenocarcinoma	Adenocarcinoma Of Lung
LNCR3	Adenocarcinoma Of Lung, Susceptibility To
Bronchogenic Lung Adenocarcinoma	Nonsmall Cell Adenocarcinoma
Adenocarcinoma Lung	Lung Adenocarcinomas
Non-Small Cell Adenocarcinoma

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

Related Agents

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0557	Bisacodyl	Inhibitor	99.59%	Yes

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-126073	DFP00173		99.59%	Unkown
HY-126074	Z433927330		98.11%	Unkown
HY-142980	Dioleoylphosphatidylglycerol		/	Unkown
HY-157979	AQP3-IN-1	Inhibitor	/	Unkown
HY-RS00875	AQP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AQP3	VGNC	VGNC:51701
Mus musculus	AQP3	MGD	MGI:1333777
Macaca mulatta	AQP3	VGNC	VGNC:103241
Rattus norvegicus	AQP3	RGD	RGD:68428
Felis catus	AQP3	VGNC	VGNC:102901
Bos taurus	AQP3	VGNC	VGNC:56935

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