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

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

中文名称:溶质载体家族 4 成员 1 (迭戈血型)

种属: Homo sapiens

同用名: DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A

基因 ID: 6521 | 基因类型: protein coding

关于 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).

功能概要

由该基因编码的蛋白质是阴离子交换剂 (AE) 家族的一部分,在红细胞质膜中表达,在那里它充当氯化物/碳酸氢盐交换剂,参与二氧化碳从组织到肺部的运输。该蛋白质包含两个结构和功能不同的结构域。 N 端 40kDa 结构域位于细胞质中,通过结合锚蛋白充当红细胞骨架的附着位点。糖基化的 C 末端膜相关结构域包含 12-14 个跨膜片段,并进行二苯乙烯二磺酸盐敏感的阴离子交换转运。膜结构域最末端 C 末端的细胞质尾部结合碳酸酐酶 II。编码的蛋白质与红细胞膜蛋白血型糖蛋白 A 结合,这种结合促进了交换器的正确折叠和易位。这种蛋白质主要是二聚体,但在锚蛋白存在的情况下形成四聚体。该基因的许多突变在人类中是已知的,这些突变可导致两种类型的疾病:导致遗传性球形红细胞增多症的红细胞膜不稳定,以及导致远端肾小管酸中毒的肾酸分泌缺陷。其他不会引起疾病的突变会产生新的血型抗原,形成迭戈血型系统。东南亚卵形细胞增多症 (SAO,Melanesian ovalocytosis) 是由于编码蛋白存在杂合性缺失所致,在恶性疟原虫疟疾流行的地区很常见。已知该基因中的一个无效突变会导致非常严重的贫血和肾钙质沉着症。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_000342.4 NP_000333.1 band 3 anion transport protein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ankyrin binding IPI
IPI: 通过物理相互作用推断
379653 GOA
enables bicarbonate transmembrane transporter activity IDA
IDA: 通过直接分析推断
24121512 GOA
enables chloride:bicarbonate antiporter activity IDA
IDA: 通过直接分析推断
28387307 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
2204832 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
379653 GOA
enables solute:inorganic anion antiporter activity IDA
IDA: 通过直接分析推断
14734552 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicarbonate transport IDA
IDA: 通过直接分析推断
24121512 GOA
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
14734552 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ankyrin-1 complex IDA
IDA: 通过直接分析推断
35835865 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
12539048 GOA
located in cortical cytoskeleton IDA
IDA: 通过直接分析推断
16669616 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
379653 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC4A1 蛋白结构

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.
蛋白主名 其他名称

band 3 anion transport protein

Diego blood group

SLC4A1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SLC4A1 P02730 ADAM33 Homo sapiens Q08AM2
Validated Y2H
32296183
种属内
SLC4A1 P02730 CFHR5 Homo sapiens Q9BXR6
Validated Y2H
32296183
种属内
SLC4A1 P02730 STOM Homo sapiens P27105
Density Sedimentation
23219802
种属内
SLC4A1 P02730 STOM Homo sapiens P27105
Crosslink
23219802
种属内
SLC4A1 P02730 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
种属内
SLC4A1 P02730 GYPA Homo sapiens P02724
Density Sedimentation
23219802
种属内
SLC4A1 P02730 ATP1B1 Homo sapiens P05026
ELISA
25012180
种属内
SLC4A1 P02730 ATP1B1 Homo sapiens P05026
Anti Bait CoIP
25012180
种属内
SLC4A1 P02730 ATP1B1 Homo sapiens P05026
Confocal
25012180
种属内
SLC4A1 P02730 ATP1B1 Homo sapiens P05026
Fluorescence Spectr
25012180
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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