C4B - complement C4B (Chido blood group) Gene

Also Known as CH; C4F; CO4; C4B1; C4B2; C4B3; C4B5; C4BD; C4B12; C4B_2; CPAMD3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 721

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_001002029.4	NP_001002029.3	complement C4-B preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables carbohydrate binding	IDA IDA: Inferred from direct assay	2395880	GOA
enables complement binding	IDA IDA: Inferred from direct assay	2395880	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22071314	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in complement activation	IGI IGI: Inferred from genetic interaction	19302245	GOA
involved in detection of molecule of bacterial origin	IDA IDA: Inferred from direct assay	22333221	GOA
involved in positive regulation of apoptotic cell clearance	IGI IGI: Inferred from genetic interaction	19302245	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	2395880	GOA
located in symbiont cell surface	IDA IDA: Inferred from direct assay	22333221	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

C4B Protein Structure

A2M_N

A2M_N_2

ANATO

A2M

Thiol-ester_cl

A2M_comp

A2M_recep

NTR

0
300
600
900
1200
1500
1698 a.a.

Protein Preferred Names	Protein Names
complement C4-B	C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3

Related Diseases

Diseases	Alias
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

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990091	Riliprubart	Inhibitor	99.90%	Phase 3
HY-P99905	Efdamrofusp alfa		99.89%	Phase 3

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS18586	C4b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01746	C4B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18215	C4a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24692	C4a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25071	C4b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	C4B	RGD	RGD:1591983