SLC4A1 - solute carrier family 4 member 1 (Diego blood group) Gene

Also Known as DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6521

About SLC4A1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,248,390-44,268,135 (from NCBI)

This gene has 4 transcripts (splice variants), 279 orthologues, 9 paralogues and is associated with 20 phenotypes. Restricted expression toward bone marrow (RPKM 157.0).

Summary

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds Carbonic Anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

SLC4A1 Products (1)

mRNA Protein Name
NM_000342.4 NP_000333.1 band 3 anion transport protein
Molecular Function GO Annotation Evidence References Source
enables ankyrin binding IPI
IPI: Inferred from physical interaction
379653 GOA
enables bicarbonate transmembrane transporter activity IDA
IDA: Inferred from direct assay
24121512 GOA
enables chloride:bicarbonate antiporter activity IDA
IDA: Inferred from direct assay
28387307 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
2204832 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
379653 GOA
enables solute:inorganic anion antiporter activity IDA
IDA: Inferred from direct assay
14734552 GOA
Biological Process GO Annotation Evidence References Source
involved in bicarbonate transport IDA
IDA: Inferred from direct assay
24121512 GOA
involved in chloride transmembrane transport IDA
IDA: Inferred from direct assay
14734552 GOA
Cellular Component GO Annotation Evidence References Source
part of ankyrin-1 complex IDA
IDA: Inferred from direct assay
35835865 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
12539048 GOA
located in cortical cytoskeleton IDA
IDA: Inferred from direct assay
16669616 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
379653 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

SLC4A1 Protein Structure

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (90 - 328)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (371 - 557)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (564 - 839)

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

band 3 anion transport protein

  • Diego blood group

SLC4A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC4A1 P02730 ADAM33 Homo sapiens Q08AM2 32296183
Intra
SLC4A1 P02730 CFHR5 Homo sapiens Q9BXR6 32296183
Intra
SLC4A1 P02730 STOM Homo sapiens P27105 23219802
Intra
SLC4A1 P02730 STOM Homo sapiens P27105 23219802
Intra
SLC4A1 P02730 TMEM60 Homo sapiens Q9H2L4 32296183
Intra
SLC4A1 P02730 GYPA Homo sapiens P02724 23219802
Intra
SLC4A1 P02730 ATP1B1 Homo sapiens P05026 25012180
Intra
SLC4A1 P02730 ATP1B1 Homo sapiens P05026 25012180
Intra
SLC4A1 P02730 ATP1B1 Homo sapiens P05026 25012180
Intra
SLC4A1 P02730 ATP1B1 Homo sapiens P05026 25012180
Cross: Cross-species interaction Intra: Intraspecies interaction

SLC4A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82074 Band 3 Antibody (YA1819) WB, IHC-P, ICC/IF Human

Related Diseases

Diseases Alias
Renal Tubular Acidosis, Distal, 1
  • Autosomal Dominant Distal Renal Tubular Acidosis

  • DRTA1

  • Rta, Distal Type, Autosomal Dominant

  • Renal Tubular Acidosis I

  • Rta, Classic Type

  • Rta, Gradient Type

  • Distal Renal Tubular Acidosis 1

  • Autosomal Dominant Slc4a1-Associated Distal Renal Tubular Acidosis

  • Renal Tubular Acidosis 1

  • Ad Drta

  • Autosomal Dominant Rta Distal Type

  • Rta Classic Type

  • Rta Gradient Type

  • Renal Tubular Acidosis, Distal, Autosomal Dominant

  • Acidosis, Tubular, Renal, Distal, Autosomal Dominant

  • Distal Renal Tubular Acidosis

Cryohydrocytosis
  • CHC

  • Stomatocytosis, Cold-Sensitive

  • Hereditary Cryohydrocytosis With Normal Stomatin

  • Pseudohyperkalemia Cardiff

Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
  • DRTA4

  • Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology

  • Distal Renal Tubular Acidosis 4 With Hemolytic Anemia

  • Distal Renal Tubular Acidosis With Anemia

  • Drta With Anemia

  • Autosomal Recessive Distal Rta With Hemolytic Anemia

  • DRTA-NRC

Ovalocytosis, Southeast Asian
  • Southeast Asian Ovalocytosis

  • SAO

  • Elliptocytosis 4

  • Ovalocytosis, Malaysian-Melanesian-Filipino Type

  • El4

  • Elliptocytosis, Stomatocytic Hereditary

  • He, Stomatocytic

  • Ovalocytosis, Sa Type

  • Hereditary Ovalocytosis

  • Melanesian Elliptocytosis

  • Melanesian Ovalocytosis

  • Stomatocytic Elliptocytosis

  • Elliptocytosis, Hereditary

Spherocytosis, Type 4
  • Hereditary Spherocytosis Type 4

  • SPH4

  • Hs4

  • Spherocytosis, Hereditary, 4

  • Hereditary Spherocytosis 4

  • Spherocytosis 4

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Blood Group, Diego System
  • DI

  • Diego Blood Group System

  • Blood Group--Diego System

Blood Group--Swann System
  • SW

Blood Group--Wright Antigen
  • WR

  • Wright Blood Group Antigen

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]

Distal Renal Tubular Acidosis
  • Classic Rta

  • Familial Distal Primary Acidosis

  • Renal Tubular Acidosis Type 1

  • Drta

  • Renal Tubular Acidosis, Distal

Distal Renal Tubular Acidosis With Hemolytic Anemia
  • Renal Tubular Acidosis, Distal, With Hemolytic Anemia

  • Acidosis, Tubular, Renal, Distal, With Hemolytic Anemia

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
  • Pseudohyperkalemia Cardiff

  • Familial Pseudohyperkalemia

  • PSHK2

  • Pseudohyperkalemia Lille

  • Pseudohyperkalemia Falkirk

  • Pseudohyperkalemia Chiswick

  • Pseudohyperkalemia East London

  • Cryohydrocytosis, Mild

  • Cryohydrocytosis

  • Stomatocytosis, Cold-Sensitive

Hereditary Spherocytosis
  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
  • Dehydrated Hereditary Stomatocytosis

  • Hereditary Xerocytosis

  • Xerocytosis, Hereditary

  • Pshk1

  • Pseudohyperkalemia Edinburgh

  • Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

  • DHS1

  • Dhs

  • Hereditary Desiccytosis

  • Dehydrated Hereditary Stomatocytosis 1

  • Desiccytosis, Hereditary

  • Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

  • Pseudohyperkalemia Familial 1, Due To Red Cell Leak

  • Desiccytosis Hereditary

  • Xerocytosis Hereditary

  • Familial Pseudohyperkalemia 1 Due To Red Cell Leak

  • Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

  • Xerocytosis

Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
  • Autosomal Recessive Distal Renal Tubular Acidosis

  • Autosomal Recessive Distal Rta

  • Renal Tubular Acidosis, Distal, Autosomal Recessive

  • DRTA3

  • Rtadr

  • Ar Drta

  • Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss

  • Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included

  • Rta, Distal, Autosomal Recessive

  • Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing

  • Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss

  • Distal Renal Tubular Acidosis With Preserved Hearing

  • Acidosis, Tubular, Renal, Distal, Autosomal Recessive

Nephrocalcinosis
  • Hypercalcemic Nephropathy

Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

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

Blood Group Incompatibility
Metabolic Acidosis
Kernicterus
  • Bilirubin Encephalopathy

  • Hyperbilirubinemic Encephalopathy

  • Kernicterus Spectrum Disorder

Tetanus Neonatorum
  • Neonatal Tetanus

  • NNT

  • Trismus Neonatorum

  • Newborn Trismus

Corneal Endothelial Dystrophy
  • Congenital Hereditary Endothelial Dystrophy Of Cornea

  • Chandler Syndrome

  • CHED

  • Chandler'S Syndrome

  • Endothelial Corneal Dystrophy

  • Ched2

  • Maumenee Corneal Dystrophy

  • Corneal Dystrophy, Congenital Hereditary Endothelial

  • Dystrophy Of Corneal Endothelium

  • Corneal Endothelial Dystrophy 2

  • Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

  • Ched2, Formerly

  • Corneal Endothelial Dystrophy, Autosomal Recessive

  • Endothelial Dystrophy

  • Posterior Membrane Corneal Dystrophy

  • Corneal Endothelial Dystrophy Type 2

  • Congenital Hereditary Endothelial Dystrophy Of The Cornea

  • Congenital Hereditary Endothelial Dystrophy Type Ii

  • Autosomal Recessive Ched

  • Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

  • Chedii

  • Congenital Hereditary Endothelial Dystrophy Type 2

  • Infantile Hereditary Endothelial Dystrophy

  • Congenital Hereditary Endothelial Corneal Dystrophy

  • Corneal Endothelial Dystrophy 2, Autosomal Recessive

  • Iridocorneal Endothelial Syndrome

  • Dystrophy, Corneal, Endothelial

  • Corneal Endothelial Dystrophy 1, Autosomal Dominant

Priapism
  • Mentulagra

  • Priapism, Familial Idiopathic

  • Familial Idiopathic Priapism

  • Pathologic Erection

  • Painful Erection

Respiratory Failure
  • Acute Respiratory Failure

  • Chronic Respiratory Failure

  • Respiratory Insufficiency

  • Acute-On-Chronic Respiratory Failure

  • Respiratory Disease

  • Acute And Chronic Respiratory Failure

  • Respiratory Insufficiency/Failure

  • Chronic Respiratory Disease

  • Pulmonary Valve Insufficiency

  • Chronic Disease Of Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

  • Lung Failure Nos

  • Pulmonary Failure

  • Arf - [Acute Respiratory Failure]

  • Acute Respiratory Insufficiency

  • Acute Pulmonary Insufficiency

  • Acute Respiration Failure

  • Chronic Respiration Failure

Congenital Dyserythropoietic Anemia
  • Congenital Dyshaematopoietic Anaemia

  • Dyserythropoietic Anemia, Congenital

  • Cda

  • Anemia, Dyserythropoietic, Congenital

  • Anemia Dyserythropoietic Congenital

  • Cda - [Congenital Dyserythropoietic Anaemia]

  • Dyserythropoietic Dyshaematopoietic Congenital Anaemia

  • Dyshaematopoietic Anaemia

  • Dyserythropoietic Anaemia

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

Thalassemia
  • Sickle-Cell Thalassemia With Crisis

  • Sickle-Cell Thalassemia Without Crisis

  • Thalassemia Hb-S Disease With Crisis

  • Thalassemia Hb-S Disease Without Crisis

  • Thalassemias

  • Hereditary Leptocytosis

  • Haemoglobin Thalassaemia Disorder

  • Thalassaemia Syndrome

  • Thalassaemia Nos

  • Thalassemia Variants

Pendred Syndrome
  • Goiter-Deafness Syndrome

  • Deafness With Goiter

  • PDS

  • Thyroid Dyshormonogenesis 2b

  • Tdh2b

  • Autosomal Recessive Sensorineural Hearing Impairment And Goiter

  • Pendred'S Syndrome

  • Thyroid Hormonogenesis, Genetic Defect In, 2b

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

  • Congenital Hypothyroidism Due To Dyshormonogenesis 2b

  • Genetic Defect In Thyroid Hormonogenesis 2b

  • Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

  • Goiter-Hearing Loss Syndrome

  • Goitre-Deafness Syndrome

  • Goitre Deafness

Glutamate-Cysteine Ligase Deficiency
  • Gamma-Glutamylcysteine Synthetase Deficiency

  • Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency

  • Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Plasmodium Falciparum Malaria
  • Falciparum Malaria

  • Malaria, Falciparum

  • Malaria Fever, Subtertian

  • Malignant Tertian Fever

  • Malaria Falciparum

  • Cerebral Malaria Nos

  • Cerebral Malaria

Nephrolithiasis
  • Kidney Stones

  • Stone - Kidney/Ureter

  • Kidney Calculi

Rift Valley Fever
  • Rfv - [Rift Valley Fever]

Renal Tubular Transport Disease
  • Renal Tubular Transport, Inborn Errors

  • Inborn Renal Tubular Transport Disorder

Osteopetrosis, Autosomal Recessive 3
  • Osteopetrosis With Renal Tubular Acidosis

  • Marble Brain Disease

  • OPTB3

  • Guibaud-Vainsel Syndrome

  • Carbonic Anhydrase Ii Deficiency

  • Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

  • Autosomal Recessive Osteopetrosis 3

  • Carbonic Anhydrase 2 Deficiency

  • Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

  • Osteopetrosis Autosomal Recessive 3

  • Autosomal Recessive Osteopetrosis Type 3

  • Guibaud Vainsel Syndrome

  • Mixed Rta

  • Mixed Renal Tubular Acidosis

  • Renal Tubular Acidosis Type 3

  • Carbonic Anhydrase Ii Deficiency Syndrome

  • Carbonic Anhydrase Ii Variant

  • Osteopetrosis, Autosomal Recessive, Type 3

  • Carbonic Anhydrase 2

Overhydrated Hereditary Stomatocytosis
  • Ohs

  • Potassium Sodium Disorder Of Erythrocyte

  • OHST

  • Stomatocytosis I

  • Potassium-Sodium Disorder Of Erythrocyte

  • Stomatocytosisiohst

  • Hereditary, Overhydrated, Cation-Leak Stomatocytosis

  • Overhydrated Cation Leak Stomatocytosis

  • Stomatocytosis, Overhydrated Hereditary

Beta-Thalassemia
  • Beta Thalassemia

  • Cooley'S Anemia

  • Mediterranean Anemia

  • Beta Thalassemia Intermedia

  • Erythroblastic Anemia

  • Thalassemia, Hispanic Gamma-Delta-Beta

  • Thalassemia Major

  • Thalassemia Minor

  • Beta-Plus-Thalassemia

  • Thalassemia, Beta

  • Beta Thalassemia Major

  • Beta Thalassemia Minor

  • Thalassemias, Beta-

  • Microcytemia, Beta Type

  • Thalassemia, Beta Type

  • B-THAL

  • Mediterranean Anaemia

  • Beta Thalassaemia Syndrome

  • Mediterranean Disease

  • Beta Thalassaemia Disease

Splenomegaly
Osteopetrosis, Autosomal Recessive 6
  • OPTB6

  • Autosomal Recessive Osteopetrosis 6

  • Autosomal Recessive Osteopetrosis Intermediate Form

  • Osteopetrosis, Autosomal Recessive, Intermediate Form

  • Osteopetrosis Autosomal Recessive 6

  • Autosomal Recessive Osteopetrosis Type 6

  • Osteopetrosis Autosomal Recessive Intermediate Form

  • Intermediate Osteopetrosis

  • Autosomal Recessive Intermediate Osteopetrosis

  • Osteopetrosis, Autosomal Recessive, Type 6

Congenital Hemolytic Anemia
  • Anemia Hemolytic Congenital

  • Anemia, Hemolytic, Congenital

  • Congenital Hemolytic Anaemia

  • Hereditary Hemolytic Anaemia

  • Hereditary Hemolytic Anemia

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
  • Kallmann Syndrome 2

  • Kal2

  • HH2

  • Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Amelanotic Melanoma
  • Melanoma, Amelanotic

  • Melanoma Amelanotic

  • Amelanotic Skin Melanoma

Glucosephosphate Dehydrogenase Deficiency
  • G6pd Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency

  • Deficiency Of Glucose-6-Phosphate Dehydrogenase

  • Glucose 6 Phosphate Dehydrogenase Deficiency

  • Deficiency Of G-6pd

  • G6pdd

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Fuchs' Endothelial Dystrophy
  • Fuchs Endothelial Corneal Dystrophy

  • Fuchs Endothelial Dystrophy

  • Fuchs Dystrophy

  • Fced

  • Fuchs' Corneal Dystrophy

  • Fuchs' Endothelial Corneal Dystrophy

  • Fuchs Atrophy

  • Fuchs Corneal Dystrophy

  • Endoepithelial Corneal Dystrophy

  • Fecd

  • Late Hereditary Endothelial Dystrophy

  • Corneal Dystrophy, Fuchs Endothelial

  • Dystrophy, Corneal, Fuchs Endothelial

  • Corneal Dystrophy, Fuchs' Endothelial, 1

Gilbert Syndrome
  • Gilbert Disease

  • Gilbert'S Disease

  • Gilbert'S Syndrome

  • Cholemia, Familial

  • Familial Nonhemolytic Jaundice

  • Meulengracht Syndrome

  • Gilbert Syndrome, Susceptibility To

  • Hyperbilirubinemia, Gilbert Type

  • Hblrg

  • Hyperbilirubinemia, Arias Type

  • Hyperbilirubinemia I

  • Constitutional Hyperbilirubinemia

  • Gilbert-Meulengracht Syndrome

  • Hereditary Nonhemolytic Jaundice

  • Hyperbilirubinemia Arias Type

  • Hyperbilirubinemia Type 1

  • Constitutional Liver Dysfunction

  • Gilbert-Lereboullet Syndrome

  • Hyperbilirubinemia 1

  • Unconjugated Benign Bilirubinemia

  • GILBS

  • Gilberts Syndrome

  • Familial Nonhaemolytic Jaundice

  • Constitutional Hyperbilirubinaemia

  • Hereditary Nonhaemolytic Bilirubinaemia

  • Familial Nonhaemolytic Bilirubinaemia

  • Idiopathic Hyperbilirubinaemia

  • Icterus Intermittens Juvenilis

  • Chronic Intermittent Juvenile Jaundice

  • Low-Grade Chronic Hyperbilirubinaemia Syndrome

  • Benign Unconjugated Bilirubinaemia Syndrome

  • Hereditary Nonhaemolytic Jaundice

  • Idiopathic Unconjugated Hyperbilirubinaemia

  • Gilbert--Lereboullet Syndrome

  • Constitutional Hepatic Dysfunction

  • Meulengracht Icterus

  • Cholaemia Familiaris Simplex

  • Familial Cholaemia

  • Congenital Familial Cholaemia

  • Physiologic Cholaemia

  • Hyperbilirubinaemia Type 1

  • Gilbert Cholaemia

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

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
Canis familiaris SLC4A1 VGNC VGNC:49095
Bos taurus SLC4A1 VGNC VGNC:55870
Macaca mulatta SLC4A1 VGNC VGNC:99259
Rattus norvegicus SLC4A1 RGD RGD:3710
Felis catus SLC4A1 VGNC VGNC:99454
Mus musculus SLC4A1 MGD MGI:109393
Others SLC4A1 NCBI