C4A - complement C4A (Rodgers blood group) Gene

Homo sapiens

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

Gene ID: 720 | Gene type: protein coding

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

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

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

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	C4A	RGD	RGD:620005
Mus musculus	C4A	NCBI