SLC9A3 - solute carrier family 9 member A3 Gene

Also Known as NHE3; DIAR8; NHE-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6550

About SLC9A3

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:470,456-524,449 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 238 orthologues, 10 paralogues and is associated with 3 phenotypes. Biased expression in colon (RPKM 56.4), kidney (RPKM 51.3) and 9 other tissues.

Summary

The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]

SLC9A3 Products (2)

mRNA	Protein	Name
NM_001284351.3	NP_001271280.1	sodium/hydrogen exchanger 3 isoform 2
NM_004174.4	NP_004165.2	sodium/hydrogen exchanger 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	35613257	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	35613257	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16159897	GOA
enables sodium:proton antiporter activity	IDA IDA: Inferred from direct assay	26358773	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of intracellular pH	IDA IDA: Inferred from direct assay	35613257	GOA
involved in sodium ion import across plasma membrane	IDA IDA: Inferred from direct assay	26358773	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome	IDA IDA: Inferred from direct assay	25851603	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	16501490	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26358773	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	35613257	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

SLC9A3 Protein Structure

Na_H_Exchanger

0
200
400
600
834 a.a.

Protein Preferred Names	Protein Names
sodium/hydrogen exchanger 3	Na(+)/H(+) exchanger 3

Related Diseases

Diseases	Alias
Diarrhea 8, Secretory Sodium, Congenital	Congenital Secretory Sodium Diarrhea 8 DIAR8 Diarrhea, Congenital Sodium Csd Congenital Secretory Diarrhea, Sodium Type
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Diarrhea 3, Secretory Sodium, Congenital, Syndromic Congenital Secretory Sodium Diarrhea 3 Congenital Sodium Diarrhea DIAR3 Csd Sodium Diarrhea, Congenital Congenital Secretory Sodium Diarrhea 3 Syndromic Congenital Secretory Sodium Diarrhea 3 With Or Without Other Congenital Anomalies Congenital Secretory Sodium Diarrhoea 3 Congenital Secretory Sodium Diarrhoea 3 Syndromic Congenital Secretory Sodium Diarrhoea 3 With Or Without Other Congenital Anomalies Na-H Exchange Deficiency Non-Syndromic Congenital Sodium Diarrhea Diarrhea, Type 3, Secretory Sodium, Congenital, Syndromic Congenital Secretory Diarrhea, Sodium Type
Secretory Diarrhea
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
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
Metabolic Acidosis
Hypertrophy Of Tongue Papillae	Tongue Papillary Hypertrophy Hypertrophy Of Foliate Papillae
Inflammatory Diarrhea
Ileus	Ileus Of Intestine
Diarrhea 1, Secretory Chloride, Congenital	DIAR1 Chloride Diarrhea, Congenital, Finnish Type Congenital Secretory Chloride Diarrhea 1 Congenital Chloride Diarrhea Finnish Type Congenital Chloride Diarrhea Chloridorrhea, Congenital Congenital Chloride Diarrhoea Finnish Type Congenital Chloridorrhea Congenital Secretory Chloride Diarrhoea 1 Chloridorrhea Congenital Cld Diarrhea 1 Secretory Chloride Congenital Diarrhea, Type 1, Chloride, Secretory, Congenital
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Ureteral Obstruction
Vas Deferens, Congenital Bilateral Aplasia Of	Congenital Bilateral Absence Of Vas Deferens CBAVD Cavd Congenital Bilateral Aplasia Of Vas Deferens Congenital Bilateral Absence Of The Vas Deferens Congenital Bilateral Agenesis Of Vas Deferens Absence Of Vas Deferens Absent Vasa Congenital Absence Of Vas Deferens Congenital Aplasia Of Vas Deferens Absent Vas Deferens Vas Deferens, Congenital Bilateral Absence
Short Bowel Syndrome	Short Gut Syndrome Acquired Short Bowel Syndrome Secondary Short Bowel Syndrome Short Bowel Nos
Leptospirosis	Fort Bragg Fever Weil Disease Leptospirosis Icterohaemorrhagica Nanukayami Fever Canicola Fever Hemorrhagic Jaundice Mud Fever Stuttgart Disease Swamp Fever Rat Catcher'S Yellows Spirochetal Jaundice Weil'S Disease Cane-Cutter Fever Icterohemorrhagic Fever Rice-Field Fever Swineherd'S Disease Weil Syndrome Nanukayami Canine Leptospirosis Equine Infectious Anemia Leptospirosis Canicola Fever Due To Leptospira Autumnalis Gikiyami Leptospira Interrogans Autumnalis Infection Leptospira Interrogans Canicola Infection Leptospira Interrogans Hebdomadis Infection Leptospira Interrogans Pomona Infection Nanukayami Disease Pretibial Fever Seven-Day Fever Eia - [Equine Infectious Anaemia] Leptospira Interrogans Infection
Spermatocele
Osmotic Diarrhea
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Congenital Diarrhea
Cholera	Vibrio Cholerae Infection Cholera - Vibrio Cholerae Cholera Due To Vibrio Cholerae Vibrio Cholerae Cholera Syndrome Asiatic Cholera Epidemic Cholera
Corneal Dystrophy, Band-Shaped	Band Keratopathy Band-Shaped Keratopathy
Diarrhea 5, With Tufting Enteropathy, Congenital	Congenital Diarrhea 5 With Tufting Enteropathy Congenital Tufting Enteropathy DIAR5 Cte Intestinal Epithelial Cell Dysplasia Tufting Enteropathy Ied Intestinal Epithelial Dysplasia Enteropathy, Congenital Tufting Congenital Diarrhoea 5 With Tufting Enteropathy Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities Congenital Enteropathy Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities Non-Syndromic Congenital Tufting Enteropathy Diarrhea, Type 5, With Tufting Enteropathy, Congenital Intestinal Intraepithelial Neoplasia
Acute Diarrhea
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Intestinal Impaction
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Acute Kidney Failure	Acute Renal Failure Acute Kidney Injury Renal Failure Acute Kidney Failure, Acute Pre-Renal Acute Kidney Injury Nontraumatic Acute Kidney Injury Aki - [Acute Kidney Injury] Arf - [Acute Kidney Failure] Acute Kidney Disease Acute Kidney Impairment Acute Ischaemic Renal Failure Acute Hypoxic Kidney Failure Acute Kidney Shutdown Acute Renal Oedema Acute Renal Impairment Acute Kidney Collapse Acute Necrotising Kidney Acute Renal Suppression
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Corneal Degeneration	Degenerative Corneal Opacity
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Dysentery	Infectious Diarrhea
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Diabetes Mellitus	Diabetes
Polyhydramnios

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13343	SLC9A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC9A3	MGD	MGI:105064
Felis catus	SLC9A3	VGNC	VGNC:65433
Rattus norvegicus	SLC9A3	RGD	RGD:3720
Bos taurus	SLC9A3	VGNC	VGNC:34940
Canis familiaris	SLC9A3	VGNC	VGNC:53464
Macaca mulatta	SLC9A3	VGNC	VGNC:77638
Others	SLC9A3	NCBI