C4B - complement C4B (Chido blood group) Gene

Homo sapiens

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

Gene ID: 721 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Inhibitory Antibodies (1)

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01746	C4B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99905	Efdamrofusp alfa		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	C4B	RGD	RGD:1591983
Mus musculus	C4B	NCBI	NCBI:12268