SLC4A7 - solute carrier family 4 member 7 Gene

Also Known as NBC2; NBC3; SBC2; NBCN1; SLC4A6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9497

About SLC4A7

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:27,372,723-27,484,384 (from NCBI)

This gene has 18 transcripts (splice variants), 276 orthologues and 9 paralogues. Ubiquitous expression in duodenum (RPKM 27.5), small intestine (RPKM 8.8) and 20 other tissues.

Summary

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

SLC4A7 Products (9)

mRNA Protein Name
NM_001258379.2 NP_001245308.1 sodium bicarbonate cotransporter 3 isoform b
NM_001258380.2 NP_001245309.1 sodium bicarbonate cotransporter 3 isoform c
NM_001321103.2 NP_001308032.1 sodium bicarbonate cotransporter 3 isoform d
NM_001321104.2 NP_001308033.1 sodium bicarbonate cotransporter 3 isoform e
NM_001321105.2 NP_001308034.1 sodium bicarbonate cotransporter 3 isoform f
NM_001321106.2 NP_001308035.1 sodium bicarbonate cotransporter 3 isoform g
NM_001321107.2 NP_001308036.1 sodium bicarbonate cotransporter 3 isoform h
NM_001321108.2 NP_001308037.1 sodium bicarbonate cotransporter 3 isoform i
NM_003615.5 NP_003606.3 sodium bicarbonate cotransporter 3 isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
14736710 GOA
enables sodium:bicarbonate symporter activity IDA
IDA: Inferred from direct assay
10347222 GOA
enables sodium:bicarbonate symporter activity IMP
IMP: Inferred from mutant phenotype
14578046 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to growth factor stimulus IDA
IDA: Inferred from direct assay
35772404 GOA
involved in phagosome acidification IDA
IDA: Inferred from direct assay
29779931 GOA
involved in purine nucleotide biosynthetic process IMP
IMP: Inferred from mutant phenotype
35772404 GOA
involved in pyrimidine nucleotide biosynthetic process IMP
IMP: Inferred from mutant phenotype
35772404 GOA
Cellular Component GO Annotation Evidence References Source
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
17715183 GOA
located in membrane IDA
IDA: Inferred from direct assay
27717805 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
29779931 GOA
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
14578046 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

SLC4A7 Protein Structure

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (141 - 531)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (574 - 1088)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1214 a.a.
Protein Preferred Names Protein Names

sodium bicarbonate cotransporter 3

  • bicarbonate transporter

Related Diseases

Diseases Alias
Corneal Dystrophy, Band-Shaped
  • Band Keratopathy

  • Band-Shaped Keratopathy

Complex Partial Epilepsy
  • Epilepsy, Complex Partial

  • Complex Partial Epileptic Seizure

  • Epilepsy, Psychomotor

  • Psychomotor Epilepsy

Intestinal Impaction
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

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

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

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

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

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
Macaca mulatta SLC4A7 VGNC VGNC:77606
Canis familiaris SLC4A7 VGNC VGNC:46436
Bos taurus SLC4A7 VGNC VGNC:34896
Rattus norvegicus SLC4A7 RGD RGD:621208
Felis catus SLC4A7 VGNC VGNC:65391
Mus musculus SLC4A7 MGD MGI:2443878
Others SLC4A7 NCBI