1. Gene
  2. RHD - Rh blood group D antigen Gene

RHD - Rh blood group D antigen Gene

中文名称:Rh 血型 D 抗原

种属: Homo sapiens

同用名: RH; Rh4; RH30; RhII; RhPI; DIIIc; RHCED; RHDel; RHPII; RhDCw; CD240D; HDFNRH; RHXIII; RHDVA(TT); RhK562-II

基因 ID: 6007 | 基因类型: protein coding

关于 RHD

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:25,272,486-25,330,445 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 5.0), skin (RPKM 0.4) and 2 other tissues.

功能概要

Rh 血型系统是临床意义第二大的血型,仅次于 ABO。它也是血型中最具多态性的,由于缺失、基因转换和错义突变而发生变异。 Rh 血型包括编码 RhD 蛋白的这个基因和在单个多肽上编码 RhC 和 RhE 抗原的第二个基因。这两个基因和第三个无关基因位于 1 号染色体上的一个簇中。Rh 阳性和 Rh 阴性个体的分类取决于红细胞表面是否存在高免疫原性 RhD 蛋白。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RHD 基因产物(8)

mRNA Protein Name
NM_001127691.3 NP_001121163.1 blood group Rh(D) polypeptide isoform 2
NM_001282867.1 NP_001269796.1 blood group Rh(D) polypeptide isoform 3
NM_001282868.1 NP_001269797.1 blood group Rh(D) polypeptide isoform 4
NM_001282869.2 NP_001269798.1 blood group Rh(D) polypeptide isoform 5
NM_001282870.1 NP_001269799.1 blood group Rh(D) polypeptide isoform 6
NM_001282871.2 NP_001269800.1 blood group Rh(D) polypeptide isoform 7
NM_001282872.1 NP_001269801.1 blood group Rh(D) polypeptide isoform 8
NM_016124.6 NP_057208.3 blood group Rh(D) polypeptide isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

RHD 蛋白结构

Ammonium_transp

Ammonium_transp: Ammonium Transporter Family (20 - 392)

  • 0
  • 100
  • 200
  • 300
  • 417 a.a.
蛋白主名 其他名称

blood group Rh(D) polypeptide

D antigen (DCS)

关联疾病

疾病名称 别名
Hemolytic Disease Of Fetus And Newborn, Rh-Induced

Rh Deficiency Syndrome

Rh Disease

HDFNRH

Rh Fetomaternal Incompatibility

Rh-Null Syndrome

Blood Group, Rh System
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

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

Rh Isoimmunization

Rh Incompatibility Affecting Management Of Mother

Blood Group Incompatibility
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

Toxoplasmosis

Disseminated Toxoplasmosis

Multisystemic Disseminated Toxoplasmosis

Acquired Toxoplasmosis

Toxoplasmosis Disease Or Disorder

Infection By Toxoplasma Gondii

Toxoplasmal

Toxoplasma

Fetal Erythroblastosis

Erythroblastosis, Fetal

Ef - Erythroblastosis Foetalis

Erythroblastosis Fetalis

Haemolytic Disease Due To Rhesus Isoimmunisation

Rhesus Isoimmunisation Of The Newborn

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Neonatal Anemia

Anemia Neonatal

Anemia, Neonatal

Anaemia Neonatal

Neonatal Anaemia

Skeletal Muscle Neoplasm

Tumor Of Skeletal Muscle

Neonatal Jaundice

Neonatal Hyperbilirubinemia

Neonatal Icterus

Jaundice Neonatal

Jaundice, Neonatal

Hyperbilirubinemia, Neonatal

Typhoid Fever

Typhoid

Enteric Fever

Typhoidal Salmonellosis

Ileotyphus

Infection By Salmonella Typhi

Typhoid Any Site

Typhoid Fever Any Site

Typhoid Infection

Typhoid Infection Any Site

Typhoid Fever Confirmed

Enteric Fever Nos

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

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

Kernicterus

Bilirubin Encephalopathy

Hyperbilirubinemic Encephalopathy

Kernicterus Spectrum Disorder

Parameningeal Embryonal Rhabdomyosarcoma
Thrombocytopenic Purpura, Autoimmune

Idiopathic Thrombocytopenic Purpura

Autoimmune Thrombocytopenic Purpura

Immune Thrombocytopenic Purpura

Itp

Idiopathic Purpura

AITP

Ideopath Thrombocytopenic Pur

Primary Thrombocytopenic Purpura

Werlhof'S Disease

Thrombocytopenic Purpura Autoimmune

Purpura Thrombocytopenic Idiopathic

Purpura, Thrombocytopenic, Idiopathic

Autoimmune Thrombocytopenia

Thrombocytopenia Due To Platelet Alloimmunization

Idiopathic Thrombocytopenia

Idiopathic Thrombocytopenia Purpura

Frank'S Essential Thrombocytopenia

Itp - [Idiopathic Thrombocytopenia Purpura]

Werlhof Disease

Primary Autoimmune Thrombocytopenic Purpura

Haemorrhagic Purpura

Essential Thrombocytopenia

Purpura Haemorrhagica

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Progressive Relapsing Multiple Sclerosis

Prms

Progressive-Relapsing Ms

Multiple Sclerosis, Progressive Relapsing

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

Anemia, Autoimmune Hemolytic

Autoimmune Hemolytic Anemia

Idiopathic Autoimmune Hemolytic Anemia

Immuno-Hemolytic Anemia

Anemia, Hemolytic, Autoimmune

Autoimmune Haemolytic Anaemia

Autoimmune Hemolytic Anaemia

Acquired Autoimmune Hemolytic Anemia

Anemia Hemolytic Autoimmune

Familial Auto-Immune Hemolytic Anemia

Aha

Aiha

Patau Syndrome

Trisomy 13

Complete Trisomy 13 Syndrome

Trisomy 13 Syndrome

D1 Trisomy

Patau'S Syndrome

Complete Trisomy 13

Chromosome 13, Trisomy 13 Complete

D Trisomy Syndrome

Bartholin-Patau Syndrome

Chromosome 13 Duplication

D1 Trisomy Syndrome

D>1< Trisomy Syndrome

Patau

Chromosome 13 Trisomy

Abnormal Autosomes 13

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

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
Mus musculus RHD MGD MGI:1202882
Rattus norvegicus RHD RGD RGD:620451