1. Gene
  2. C4B - complement C4B (Chido blood group) Gene

C4B - complement C4B (Chido blood group) Gene

中文名称:补体 C4B (Chido 血型)

种属: Homo sapiens

同用名: CH; C4F; CO4; C4B1; C4B2; C4B3; C4B5; C4BD; C4B12; C4B_2; CPAMD3

基因 ID: 721 | 基因类型: protein coding

关于 C4B

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:32,014,795-32,035,418 (from NCBI)

This gene has 19 transcripts (splice variants), 1 gene allele, 253 orthologues, 8 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 500.9), adrenal (RPKM 103.5) and 6 other tissues.

功能概要

该基因编码补体因子 4 的基本形式,与 C4A 基因一起构成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 链可被切割以释放 C4 过敏毒素,一种局部炎症的介质。这种蛋白质的缺乏与系统性红斑狼疮有关。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。此外,由于内含子 9 中存在或不存在 6.4 kb 内源性 HERV-K 逆转录病毒,该基因以长形式和短形式存在。[RefSeq 提供,2020 年 5 月]

This gene encodes the basic form of complement factor 4, and together with the C4A gene, is 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 may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. 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. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]

C4B 基因产物(1)

mRNA Protein Name
NM_001002029.4 NP_001002029.3 complement C4-B 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 carbohydrate binding IDA
IDA: 通过直接分析推断
2395880 GOA
enables complement 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
22071314 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 detection of molecule of bacterial origin IDA
IDA: 通过直接分析推断
22333221 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 extracellular space IDA
IDA: 通过直接分析推断
2395880 GOA
located in symbiont cell surface IDA
IDA: 通过直接分析推断
22333221 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

C4B 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 (1456 - 1524)

NTR

NTR: UNC-6/NTR/C345C module (1570 - 1677)

  • 0
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  • 1200
  • 1500
  • 1698 a.a.
蛋白主名 其他名称

complement C4-B

C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3

关联疾病

疾病名称 别名
Complement Component 4b Deficiency

C4BD

C4b Deficiency

Decreased Serum Complement C4b

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

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]

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

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

Louse-Borne Relapsing Fever

Relapsing Fever, Louse-Borne

Relapsing Fever Due To Borrelia Recurrentis

Glomerulonephritis

Bright'S Disease

Central Serous Chorioretinopathy

Central Serous Chorioretinopathy After Bone Marrow Transplantation

Central Serous Choroidopathy

Cscr

Central Serous Retinopathy

Central Serous Choroidoretinopathy

Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome

Haemolytic-Uraemic Syndrome

Hus

Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes

Typical Haemolytic Uraemic Syndrome

Gasser Syndrome

Hus - [Haemolytic Uraemic Syndrome]

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

Angioedema

Angioneurotic Oedema

Quincke'S Edema

Angioneurotic Edema

Giant Urticaria

Tick-Borne Relapsing Fever

Relapsing Fever, Tick-Borne

Relapsing Fever Due To Any Borrelia Species Other Than Borrelia Recurrentis

African Tick-Borne Fever

Chronic Venous Insufficiency
Complement Component 3 Deficiency

C3 Deficiency

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

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Vitiligo

VAMAS1

Slev1

Vtlg

Systemic Lupus Erythematosus, Vitiligo-Related

Vitiligo-Associated Multiple Autoimmune Disease 1

Systemic Lupus Erythematosus Vitiligo-Related

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

Juvenile Dermatitis Herpetiformis
Relapsing Fever

Febris Recurrens

Novy Febris Recurrens

Novy Relapsing Fever

Monkeypox

Monkeypox Virus Infections

Aseptic Meningitis

Acute Aseptic Meningitis

Meningitis Aseptic

Meningitis, Aseptic

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

Meningococcal Meningitis

Meningitis, Meningococcal

Meningitis Meningococcal

Epidemic Meningitis

Meningitis Due To Neisseria Meningitidis

Meningococcal Meninges Infection

Meningococcal Meningeal Infection

Meningococcal Cerebrospinal Inflammation

Chronic Meningococcal Arachnoiditis

Meningococcal Arachnoiditis

Diplococcal Spinal Meningitis

Diplococcal Meningitis

Meningococcal Cerebrospinal Fever

Meningococcal Cerebrospinal Infection

Meningococcal Spinal Meningitis

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

Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Afibrinogenemia, Congenital

Congenital Afibrinogenemia

Afibrinogenemia

Factor I Deficiency

Familial Afibrinogenemia

Hypofibrinogenemia, Congenital

Fibrinogen Deficiency

Afibrinogenemia Congenital

CAFBN

Congenital Hypofibrinogenemia

Hypofibrinogenemia

Complement Factor I Deficiency

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

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

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

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

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

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 C4B RGD RGD:1591983
Mus musculus C4B NCBI NCBI:12268