1. Gene
  2. C4A - complement C4A (Rodgers blood group) Gene

C4A - complement C4A (Rodgers blood group) Gene

中文名称:补体 C4A (罗杰斯血型)

种属: Homo sapiens

同用名: C4; RG; C4S; CO4; C4A2; C4A3; C4A4; C4A6; C4AD; CPAMD2

基因 ID: 720 | 基因类型: protein coding

关于 C4A

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,982,057-32,002,681 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele, 253 orthologues, 8 paralogues and is associated with 6 phenotypes. Biased expression in liver (RPKM 487.9), adrenal (RPKM 99.6) and 7 other tissues.

功能概要

该基因编码补体因子 4 的酸性形式,是经典激活途径的一部分。该蛋白质表达为单链前体,在分泌前被蛋白水解切割成 α、β 和 γ 链的三聚体。三聚体为抗原-抗体复合物和其他补体成分之间的相互作用提供了一个表面。 α 链被切割以释放 C4 过敏毒素,一种抗菌肽和局部炎症介质。这种蛋白质的缺乏与系统性红斑狼疮和 I 型糖尿病有关。该基因定位于 6 号染色体上的主要组织相容性复合体 (MHC) III 类区域。存在该基因簇的不同单倍型,因此个体可能具有该基因的 1、2 或 3 个拷贝。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2014 年 11 月]

This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

C4A 基因产物(2)

mRNA Protein Name
NM_001252204.2 NP_001239133.1 complement C4-A isoform 2 preproprotein
NM_007293.3 NP_009224.2 complement C4-A isoform 1 preproprotein
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 complement component C1q complex binding IDA
IDA: 通过直接分析推断
2395880 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in complement activation IGI
IGI: 通过遗传相互作用推断
19302245 GOA
involved in positive regulation of apoptotic cell clearance IGI
IGI: 通过遗传相互作用推断
19302245 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axon IDA
IDA: 通过直接分析推断
26814963 GOA
located in dendrite IDA
IDA: 通过直接分析推断
26814963 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
25645918 GOA
located in neuronal cell body IDA
IDA: 通过直接分析推断
26814963 GOA
located in synapse IDA
IDA: 通过直接分析推断
26814963 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

C4A 蛋白结构

A2M_N

A2M_N: MG2 domain (141 - 233)

A2M_N_2

A2M_N_2: Alpha-2-macroglobulin family N-terminal region (478 - 610)

ANATO

ANATO: Anaphylotoxin-like domain (702 - 736)

A2M

A2M: Alpha-2-macroglobulin family (782 - 869)

Thiol-ester_cl

Thiol-ester_cl: Alpha-macro-globulin thiol-ester bond-forming region (999 - 1029)

A2M_comp

A2M_comp: A-macroglobulin complement component (1051 - 1316)

A2M_recep

A2M_recep: A-macroglobulin receptor (1481 - 1570)

NTR

NTR: UNC-6/NTR/C345C module (1616 - 1723)

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  • 1744 a.a.
蛋白主名 其他名称

complement C4-A

C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2

关联疾病

疾病名称 别名
Complement Component 4a Deficiency

C4AD

C4a Deficiency

Blood Group, Chido/Rodgers System

Chido/Rodgers Blood Group System

Blood Group System, Chido/Rodgers

Immunodeficiency Due To A Classical Component Pathway Complement Deficiency

Immunodeficiency Due To C1, C4, Or C2 Component Complement Deficiency

Immunodeficiency Due To An Early Component Of Complement Deficiency

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Systemic Lupus Erythematosus 16

SLEB16

Autosomal Systemic Lupus Erythematosus

Autosomal Sle

Familial Sle

Familial Systemic Lupus Erythematosus

Lupus Erythematosus, Systemic, Type 16

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Felty Syndrome

Felty'S Syndrome

Rheumatoid Arthritis With Splenoadenomegaly And Leukopenia

Familial Felty'S Syndrome

Rheumatoid Arthritis, Splenomegaly And Neutropenia

Splenomegaly-Neutropenia-Rheumatoid Arthritis Syndrome

Feltys Syndrome

Immunoglobulin Alpha Deficiency

Iga Deficiency

Gamma-A-Globulin Deficiency

Immunoglobulin A Deficiency

Glomerulonephritis

Bright'S Disease

Capillary Leak Syndrome

Systemic Capillary Leak Syndrome

Clarkson Disease

Capillary Leak Syndrome With Monoclonal Gammopathy

Scls

Periodic Systemic Capillary Leak Syndrome

Capillary Hyperpermeability Syndrome

Idiopathic Capillary Leak Syndrome

Hereditary Angioedema

Hereditary Angioneurotic Edema

Hereditary Angioedema Type 1

Hane

Angioedema, Hereditary

Hae

Angioedemas, Hereditary

Deficiency Of C1 Esterase Inhibitor

C1 Esterase Inhibitor Deficiency

C1 Inhibitor Deficiency

Familial Angioneurotic Edema

Hereditary Bradykinine-Induced Angioedema

Hereditary Non Histamine-Induced Angioedema

Hae 1

Hae-I

Hereditary Angioneurotic Edema Type 1

Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

Hereditary Angioedema Types I And Ii

Hereditary Angioneurotic Oedema

Familial Angioedema

Hae - [Hereditary Angioneurotic Oedema]

Bannister Disease, Hereditary

Quincke Disease Or Oedema

Hereditary Quincke Oedema

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

Lyme Disease

Lyme Borreliosis

Lyme Neuroborreliosis

Borreliosis

Borrelia Burgdorferi Infection

Neuroborreliosis

Bannwarth Syndrome

Bannworth'S Syndrome

Neurological Lyme Disease

B. Burgdorferi Infection

Borreliosis, Lyme

Infection By Borrelia Burgdorferi

Infection Due To Borrelia Burgdorferi Sensu Lato

Lym

Borrelia Infections

Louse-Borne Relapsing Fever

Relapsing Fever, Louse-Borne

Relapsing Fever Due To Borrelia Recurrentis

Angioedema

Angioneurotic Oedema

Quincke'S Edema

Angioneurotic Edema

Giant Urticaria

Chronic Venous Insufficiency
Iga Glomerulonephritis

Iga Nephropathy

Glomerulonephritis, Iga

Berger'S Iga Or Igg Nephropathy

Focal Glomerulonephritis

Primary Iga Nephropathy

Segmental Glomerulonephritis

Berger Disease

Berger'S Disease

Igan

Nephritis, Iga Type

Nephropathy Iga

Glomerulonephritis Focal

Iga Nephropathy, Susceptibility To

Primary Immunoglobulin A Nephropathy

Complement Component 3 Deficiency

C3 Deficiency

Complement Factor I Deficiency

Complement Component 3 Inactivator Deficiency

C3 Inactivator Deficiency

Hereditary Factor I Deficiency Disease

C3 Glomerulopathy 2

CFID

C3g2

Immunodeficiency With Factor I Anomaly

Complete Factor I Deficiency

CFI DEFICIENCY

Deficiency, Complement Factor I

Complement Factor I Deficiency

Deficiency Of Factor 1

Hereditary Fibrinogen Deficiency

Deficiency Of Fibrinogen

Congenital Fibrinogenopenia

Diabetes Mellitus

Diabetes

Tick-Borne Relapsing Fever

Relapsing Fever, Tick-Borne

Relapsing Fever Due To Any Borrelia Species Other Than Borrelia Recurrentis

African Tick-Borne Fever

Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune

Complement Component 5 Deficiency

C5 Deficiency

C5D

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Epilepsy, Familial Temporal Lobe, 2

Familial Temporal Lobe Epilepsy 2

Temporal Epilepsy, Familial

ETL2

Ftle

Epilepsy, Familial Temporal Lobe

Familial Temporal Lobe Epilepsy

Hypersensitivity Reaction Type Iii Disease

Immune Complex Diseases

Immune Complex Disease

Type Iii Hypersensitivity Reaction Disease

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Relapsing Fever

Febris Recurrens

Novy Febris Recurrens

Novy Relapsing Fever

Juvenile Dermatitis Herpetiformis
Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome

Arylsulfatase B Deficiency

Mucopolysaccharidosis Type Vi

Mps Vi

Mucopolysaccharidosis Vi

Mucopolysaccharidosis Type 6

MPS6

Arsb Deficiency

N-Acetylgalactosamine-4-Sulfatase Deficiency

Mucopolysaccharidosis 6

N-Acetylgalactosamine 4-Sulfatase Deficiency

Deficiency Of N-Acetylgalactosamine-4-Sulfatase

Maroteaux - Lamy Syndrome

Mps Vi - Maroteaux-Lamy Syndrome

Mps 6

Maroteaux Lamy Syndrome

Mucopoly-Saccharidosis Type Vi

Polydystrophic Dwarfism

Asb Deficiency

Mpsvi

Maroteaux-Lamy Disease

Arsb - [Arylsulfatase B] Deficiency

Monkeypox

Monkeypox Virus Infections

Aseptic Meningitis

Acute Aseptic Meningitis

Meningitis Aseptic

Meningitis, Aseptic

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis

Dense Deposit Disease

Membranoproliferative Glomerulonephritis Type 2

Primary Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis, Type Ii

Glomerulonephritis, Membranoproliferative

Chronic Glomerulonephritis, Lobular

Lobular Glomerulonephritis

Ddd

Glomerulonephritis Membranoproliferative Type 2

Mpgn 2

Membranoproliferative Glomerulonephritis Type Ii

Mesangiocapillary Glomerulonephritis Type 2

Mpgn

Primary Mpgn

Glomerulonephritis Membranoproliferative

Membranoproliferative Glomerulonephritis, Type Ii

Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Bacterial Infectious Disease

Bacterial Infections

Bacterial Infection Nos

Disease Caused By Bacteria

Bacterial Disease Or Disorder

Afibrinogenemia, Congenital

Congenital Afibrinogenemia

Afibrinogenemia

Factor I Deficiency

Familial Afibrinogenemia

Hypofibrinogenemia, Congenital

Fibrinogen Deficiency

Afibrinogenemia Congenital

CAFBN

Congenital Hypofibrinogenemia

Hypofibrinogenemia

Complement Factor I Deficiency

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy

Foamy Myocardial Transformation Of Infancy

Infantile Histiocytoid Cardiomyopathy

Infantile Xanthomatous Cardiomyopathy

Oncocytic Cardiomyopathy

Cardiomyopathy, Infantile Xanthomatous

Cardiomyopathy, Focal Lipid

Cardiomyopathy, Oncocytic

Focal Lipid Cardiomyopathy

Infantile Cardiomyopathy With Histiocytoid Change

CMIH

Cardiomyopathy Focal Lipid

Cardiomyopathy Infantile Xanthomatous

Cardiomyopathy Oncocytic

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Alpha-2-Plasmin Inhibitor Deficiency

Plasmin Inhibitor Deficiency

Antiplasmin Deficiency

Antiplasmin Defiency

Anti-Plasmin Deficiency, Congenital

Antiplasmin Deficiency, Congenital

Congenital Alpha2-Antiplasmin Deficiency

APLID

Congenital Alpha2 Antiplasmin Deficiency

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

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
Rattus norvegicus C4A RGD RGD:620005
Mus musculus C4A NCBI NCBI:625018