SLC4A5 - solute carrier family 4 member 5 Gene

Also Known as NBC4; NBCe2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57835

About SLC4A5

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,216,242-74,343,416 (from NCBI)

This gene has 14 transcripts (splice variants), 279 orthologues and 9 paralogues. Broad expression in thyroid (RPKM 9.5), testis (RPKM 8.1) and 14 other tissues.

Summary

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

SLC4A5 Products (3)

mRNA Protein Name
NM_001386136.1 NP_001373065.1 electrogenic sodium bicarbonate cotransporter 4 isoform e
NM_021196.3 NP_067019.3 electrogenic sodium bicarbonate cotransporter 4 isoform a
NM_133478.3 NP_597812.1 electrogenic sodium bicarbonate cotransporter 4 isoform c
Molecular Function GO Annotation Evidence References Source
enables sodium:bicarbonate symporter activity IDA
IDA: Inferred from direct assay
11788353 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
17715183 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

SLC4A5 Protein Structure

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (141 - 408)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (487 - 953)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1040 a.a.
Protein Preferred Names Protein Names

electrogenic sodium bicarbonate cotransporter 4

  • solute carrier family 4 (sodium bicarbonate cotransporter), member 5

Related Diseases

Diseases Alias
Alstrom Syndrome
  • ALMS

  • Alström Syndrome

  • Alss

  • Alstrom-Hallgren Syndrome

  • Alstroem Syndrome

Intestinal Impaction
Corneal Dystrophy, Band-Shaped
  • Band Keratopathy

  • Band-Shaped Keratopathy

Complex Partial Epilepsy
  • Epilepsy, Complex Partial

  • Complex Partial Epileptic Seizure

  • Epilepsy, Psychomotor

  • Psychomotor Epilepsy

Corneal Dystrophy And Perceptive Deafness
  • Corneal Dystrophy-Perceptive Deafness Syndrome

  • CDPD

  • Harboyan Syndrome

  • Cdpd1

  • Corneal Dystrophy And Sensorineural Deafness

  • Corneal Endothelial Dystrophy And Perceptive Deafness

  • Corneal Dystrophy With Progressive Deafness

  • Congenital Corneal Dystrophy, Progressive Sensorineural Deafness

  • Corneal Dystrophy With Progressive Hearing Loss

  • Corneal Dystrophy-Perceptive Hearing Loss Syndrome

  • Dystrophy, Corneal, Endothelial, And Perceptive Deafness

Corneal Degeneration
  • Degenerative Corneal Opacity

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

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 SLC4A5 MGD MGI:2443220
Felis catus SLC4A5 VGNC VGNC:65390
Bos taurus SLC4A5 VGNC VGNC:34895
Rattus norvegicus SLC4A5 RGD RGD:1303009
Canis familiaris SLC4A5 VGNC VGNC:46435
Macaca mulatta SLC4A5 VGNC VGNC:106220
Others SLC4A5 NCBI