C4B (complement C4B (Chido/Rodgers blood group))

Gene

• Entrez ID: 721
• Gene name: Complement C4B (Chido/Rodgers blood group)
• Gene symbol: C4B
• Synonyms (NCBI Gene): C4B1, C4B12, C4B2, C4B3, C4B5, C4BD, C4B_2, C4F, CH, CO4, CPAMD3
• Chromosome: 6
• Chromosome location: 6p21.33
• 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 g

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2493124	hsa-miR-1206	CLIP-seq
MIRT2493125	hsa-miR-146b-3p	CLIP-seq
MIRT2493126	hsa-miR-1915	CLIP-seq
MIRT2493127	hsa-miR-2115	CLIP-seq
MIRT2493128	hsa-miR-3117-5p	CLIP-seq
MIRT2493129	hsa-miR-3173-5p	CLIP-seq
MIRT2493130	hsa-miR-4267	CLIP-seq
MIRT2493131	hsa-miR-4281	CLIP-seq
MIRT2493132	hsa-miR-433	CLIP-seq
MIRT2493133	hsa-miR-4517	CLIP-seq
MIRT2493134	hsa-miR-4519	CLIP-seq
MIRT2493135	hsa-miR-4726-3p	CLIP-seq
MIRT2493136	hsa-miR-516a-3p	CLIP-seq
MIRT2493137	hsa-miR-520f	CLIP-seq
MIRT2493138	hsa-miR-874	CLIP-seq
MIRT2493139	hsa-miR-889	CLIP-seq
MIRT2493124	hsa-miR-1206	CLIP-seq
MIRT2493127	hsa-miR-2115	CLIP-seq
MIRT2493130	hsa-miR-4267	CLIP-seq
MIRT2493132	hsa-miR-433	CLIP-seq
MIRT2493134	hsa-miR-4519	CLIP-seq
MIRT2493136	hsa-miR-516a-3p	CLIP-seq
MIRT2493137	hsa-miR-520f	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	9574539

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001848	Function	Complement binding	IDA	2395880
GO:0001848	Function	Complement binding	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003823	Function	Antigen binding	IDA	8538770
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	22071314
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	2395880
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	8538770
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IGI	19302245
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008228	Process	Opsonization	TAS	22333221
GO:0009986	Component	Cell surface	IEA
GO:0030246	Function	Carbohydrate binding	IDA	2395880
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032490	Process	Detection of molecule of bacterial origin	IDA	22333221
GO:0042995	Component	Cell projection	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0106139	Component	Symbiont cell surface	IDA	8538770
GO:0106139	Component	Symbiont cell surface	IDA	22333221
GO:0160257	Process	Complement activation, GZMK pathway	ISS
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IEA
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IGI	19302245

Other IDs

• MIM: 120820
• HGNC: 1324
• e!Ensembl: ENSG00000224389

Interactions View interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Complement component 4b deficiency	Likely pathogenic	rs771378213	RCV001725878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1 ESTERASE INHIBITOR C1-INH DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT DEFICIENCIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	10207042, 2565078, 3018042	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21403675, 33869630, 34480088	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	17229465		★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	3259571		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	17921792		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	37379808	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	37379808	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	37379808	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	2111123, 22076784, 2270969, 37379808	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	8984946	Stimulate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	7665439, 9246218		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15694999, 20452682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18179706, 8765331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18179706, 2004485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12224044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	12224044, 12226794, 16403222, 17503323, 19135723, 19150565, 2107212, 21857912, 3018042, 34764957, 7923882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19135723, 21857912, 28205620, 6332753, 7923882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	20452682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness	Blindness	Pubtator	15294999	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25287138	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	23528241		★☆☆☆☆ Found in Text Mining only
C9 Deficiency	C9 deficiency	Pubtator	10859342	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19150565	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23302412	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18032375, 19287146, 21967755		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17425651		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18927458		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	17257223		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	33869630	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28832994	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	9182895	Associate	★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	1577763		★☆☆☆☆ Found in Text Mining only
Complement Component 4a Deficiency	Complement Component Deficiency	BEFREE	11033017, 26814708		★☆☆☆☆ Found in Text Mining only
Complement Component 4a Deficiency	Complement component deficiency	Pubtator	12133986, 26814708	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	1569346		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	8525475		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	2347361, 3007562, 3013005, 8525475		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26398154, 28832994		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	3865894		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	2553583		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	1545698		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15858601		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36080270	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15858601		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	3926068	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16403222, 22151770, 3081112, 34764957	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1352685, 1682241, 22151770, 3865895, 6332753		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	3879724		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	34764957	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	2979624	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36709307	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37033921	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	21943165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	21943165	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	2573059, 9182895	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	2530015		★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	2573059		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28832994		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28832994	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	15294999	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	8485914	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	8485914	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	1545698		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	12133986, 12480675, 15294999, 16403222, 2029208, 21857912, 32499649, 34764957, 36420131, 4019777, 6401549	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	1545698		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	ORPHANET_DG	10092831, 12133986, 15998580, 17503323, 22654485, 23914156, 3265961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11033017, 1401069, 1545698, 15998580, 21857912, 26800705, 30041577, 31387635, 3873356, 7706484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	16893076, 17503323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	1545698		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33658651	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	1352699		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	16403222, 17425651	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17425651		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17425651, 18032375, 18682851		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31040200	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39702169	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	15920296	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	6538270		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	33869630	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	3496684, 7927254		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	27138196	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	11803045		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	1929549, 2613261		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	7777829		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	1563983, 2111123, 22076784, 2530015, 2567598, 2573586, 2711369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	28761078, 29249827		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32499649	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	33632634	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	36482464	Inhibit	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	32499649	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	37379808	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26552850	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	17425651	Associate	★☆☆☆☆ Found in Text Mining only
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29549708	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26398154, 28832994		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40283026	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	3081112, 3926068	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	1469300	Associate	★☆☆☆☆ Found in Text Mining only