1. Gene
  2. SLC9A3 - solute carrier family 9 member A3 Gene

SLC9A3 - solute carrier family 9 member A3 Gene

Homo sapiens

Also known as NHE3; DIAR8; NHE-3

Gene ID: 6550 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Na_H_Exchanger: Sodium/hydrogen exchanger family (58 - 462)

  • 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

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