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

Gene

• Entrez ID: 721
• Gene name: Complement C4B (Chido/Rodgers blood group)
• Gene symbol: C4B
• Synonyms: 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:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	2395880
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006956	Process	Complement activation	IBA	21873635
GO:0006956	Process	Complement activation	IGI	19302245
GO:0006956	Process	Complement activation	TAS
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008228	Process	Opsonization	TAS	22333221
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0030246	Function	Carbohydrate binding	IDA	2395880
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030449	Process	Regulation of complement activation	TAS
GO:0032490	Process	Detection of molecule of bacterial origin	IDA	22333221
GO:0044216	Component	Other organism cell	IDA	22333221
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:2000427	Process	Positive regulation of apoptotic cell clearance	IGI	19302245

Other IDs

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

Pathways

KEGG:

Complement and coagulation cascades
Alcoholic liver disease
Pertussis
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus

Reactome:

Initial triggering of complement
Activation of C3 and C5
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Regulation of Complement cascade

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15694999, 20452682
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	20452682
Complement component deficiency	Complement deficiency disease	rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814	1569346
Immunodeficiency	Immunodeficiency due to a classical component pathway complement deficiency	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970
Systemic lupus erythematosus	Systemic lupus erythematosus	rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576

Unknown
Disease name	Disease term	dbSNP ID	References
Lupus erythematosus	Lupus Erythematosus, Systemic		17503323, 3265961, 10092831, 23914156, 15998580, 22654485, 12133986