SLC4A2 - solute carrier family 4 member 2 Gene

Also Known as AE2; HKB3; BND3L; NBND3; EPB3L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6522

About SLC4A2

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,058,200-151,076,527 (from NCBI)

This gene has 20 transcripts (splice variants), 280 orthologues and 9 paralogues. Ubiquitous expression in placenta (RPKM 16.3), stomach (RPKM 13.8) and 25 other tissues.

Summary

This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]

SLC4A2 Products (4)

mRNA Protein Name
NM_001199692.3 NP_001186621.1 anion exchange protein 2 isoform 1
NM_001199693.1 NP_001186622.1 anion exchange protein 2 isoform 2
NM_001199694.2 NP_001186623.1 anion exchange protein 2 isoform 3
NM_003040.4 NP_003031.3 anion exchange protein 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Verweise Source
enables chloride:bicarbonate antiporter activity IDA
IDA: Inferred from direct assay
15184086 GOA
enables chloride:bicarbonate antiporter activity IMP
IMP: Inferred from mutant phenotype
34668226 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in osteoclast differentiation IMP
IMP: Inferred from mutant phenotype
34668226 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

SLC4A2 Protein Structure

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (352 - 619)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (674 - 1168)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1241 a.a.
Protein Preferred Names Protein Names

anion exchange protein 2

  • anion exchanger 2 type a

Related Diseases

Diseases Alias
Distal Renal Tubular Acidosis

  • Classic Rta

  • Familial Distal Primary Acidosis

  • Renal Tubular Acidosis Type 1

  • Drta

  • Renal Tubular Acidosis, Distal
Osteopetrosis

  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones
Cholestasis

  • Obstruction Of Bile Duct

  • Bile Duct Obstruction

  • Bile Occlusion

  • Extrahepatic Biliary Obstruction

  • Extrahepatic Bile Duct Obstruction

  • Bile Stasis

  • Biliary Stasis

  • Obstructive Hyperbilirubinemia

  • Obstructed Jaundice

  • Bile Duct Obstructed

  • Bile Ductal Obstruction

  • Biliary Duct Obstruction

  • Obstructed Bile Ductal

  • Obstructed Biliary Duct

  • Obstructed Biliary Ductal

  • Jaundice Regurgitation

  • Obstructive Jaundice

  • Cholestatic Jaundice

  • Cholestatic Jaundice Syndrome
Intrahepatic Cholestasis

  • Cholestasis, Intrahepatic

  • Neonatal Intrahepatic Cholestasis

  • Cholestasis Intrahepatic

  • Cholestasis Of Pregnancy
Primary Biliary Cholangitis

  • Primary Biliary Cirrhosis

  • Biliary Liver Cirrhosis

  • Chronic Nonsuppurative Destructive Cholangitis

  • Familial Primary Biliary Cirrhosis

  • Pbc

  • Hanot Syndrome

  • Cholestatic Cirrhosis

  • Biliary Cirrhosis Primary

  • Liver Cirrhosis, Biliary

  • Hanot'S Cirrhosis

  • Biliary Cirrhosis

  • Pericholangiolic Biliary Cirrhosis

  • Tannhauser-Magendantz Syndrome

  • Hanot-Rossle Syndrome

  • Hypertrophic Cirrhosis

  • Todd Cirrhosis

  • Hanot Cirrhosis

  • Charcot Cirrhosis

  • Mahon-Tannhauser Syndrome

  • Toxic Cirrhosis

  • Hypertrophic Biliary Cirrhosis

  • Monolobular Cirrhosis

  • Unilobar Cirrhosis

  • Xanthomatous Biliary Cirrhosis
Cholestasis, Benign Recurrent Intrahepatic, 1

  • Benign Recurrent Intrahepatic Cholestasis

  • BRIC1

  • Summerskill Syndrome

  • Bric

  • Summerskill-Walshe-Tygstrup Syndrome

  • Cholestasis, Benign Recurrent Intrahepatic

  • Benign Recurrent Intrahepatic Cholestasis 1

  • Benign Recurrent Intrahepatic Cholestasis Type 1

  • Bric Type 1

  • Low Gamma-Gt Familial Intrahepatic Cholestasis

  • Recurrent Familial Intrahepatic Cholestasis

  • Cholestasis, Benign Recurrent Intrahepatic 1

  • Mild Atp8b1 Deficiency

  • Recurrent Familial Intrahepatic Cholestasis 1

  • Abcb11-Related Intrahepatic Cholestasis

  • Atp8b1-Related Intrahepatic Cholestasis

  • Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

  • Progressive Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic 3

  • Bric - [Benign Recurrent Intrahepatic Cholestasis]
Cataract 14, Multiple Types

  • Cataract 14 Multiple Types

  • CTRCT14

  • Czp3

  • Cae3

  • Cataract, Zonular Pulverulent 3

  • Zonular Pulverulent Cataract 3

  • Cataract, Zonular Pulverulent-3

  • Cataract, Type 14, Multiple Types
Corneal Dystrophy, Band-Shaped

  • Band Keratopathy

  • Band-Shaped Keratopathy
Hepatocellular Carcinoma

  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour
Hereditary Elliptocytosis

  • Congenital Elliptocytosis

  • Ovalocytosis

  • Elliptocytosis, Hereditary

  • He

  • Elliptocytosis Hereditary

  • Congenital Ovalocytosis

  • Elliptocytosis

  • Hereditary Elliptocytosis With Infantile Poikilocytosis

  • Hereditary Ovalocytosis

  • Oval Erythrocytosis

  • He - [Hereditary Elliptocytosis]

  • Elliptocytosis Anaemia
Osteogenesis Imperfecta, Type I

  • Osteogenesis Imperfecta Type I

  • OI1

  • Oi, Type I

  • Osteogenesis Imperfecta Tarda

  • Osteogenesis Imperfecta With Blue Sclerae

  • Osteogenesis Imperfecta Type 1

  • Adair-Dighton Syndrome

  • Mild Osteogenesis Imperfecta

  • Non-Deforming Osteogenesis Imperfecta

  • Oi Type 1

  • Van Der Hoeve Syndrome

  • Classic Non-Deforming Oi With Blue Sclerae

  • Osteogenesis Imperfecta 1

  • Oi-I

  • Osteopenic Non-Fracture Syndrome

  • Osteogenesis Imperfecta, Mild

  • Osteogenesis Imperfecta

  • Lobstein'S Disease
Intrahepatic Cholestasis Of Pregnancy

  • Recurrent Intrahepatic Cholestasis Of Pregnancy

  • Gravidic Intrahepatic Cholestasis

  • Pregnancy-Related Cholestasis

  • Icp

  • Pregnancy Related Cholestasis

  • Cholestasis, Intrahepatic Of Pregnancy

  • Familial Intrahepatic Cholestasis Of Pregnancy

  • Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

  • Ricp

  • Obstetric Cholestasis
Cholangitis, Primary Sclerosing

  • Primary Sclerosing Cholangitis

  • PSC

  • Sclerosing Cholangitis

  • Cholangitis, Sclerosing

  • Cholangitis Primary Sclerosing

  • Psc - [Primary Sclerosing Cholangitis]
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 (2)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-180371 NF-115 Inducer / Unkown
HY-RS13268 SLC4A2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SLC4A2 VGNC VGNC:34892
Felis catus SLC4A2 VGNC VGNC:65387
Rattus norvegicus SLC4A2 RGD RGD:3711
Canis familiaris SLC4A2 VGNC VGNC:46432
Macaca mulatta SLC4A2 VGNC VGNC:81760
Mus musculus SLC4A2 MGD MGI:109351