C4A - complement C4A (Rodgers blood group) Gene

Also Known as C4; RG; C4S; CO4; C4A2; C4A3; C4A4; C4A6; C4AD; CPAMD2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 720

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables complement component C1q complex binding	IDA IDA: Inferred from direct assay	2395880	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in complement activation	IGI IGI: Inferred from genetic interaction	19302245	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 axon	IDA IDA: Inferred from direct assay	26814963	GOA
located in dendrite	IDA IDA: Inferred from direct assay	26814963	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	25645918	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	26814963	GOA
located in synapse	IDA IDA: Inferred from direct assay	26814963	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

C4A Protein Structure

A2M_N

A2M_N_2

ANATO

A2M

Thiol-ester_cl

A2M_comp

A2M_recep

NTR

0
300
600
900
1200
1500
1744 a.a.

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

C4A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81760	C4A Antibody (YA1505)	WB, IHC-P, FC	Human

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01745	C4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W324243	11β-HSD1-IN-9		/	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

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	C4A	RGD	RGD:620005