C5 (complement C5)

Gene

• Entrez ID: 727
• Gene name: Complement C5
• Gene symbol: C5
• Synonyms: C5D, C5a, C5b, CPAMD4, ECLZB
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to genera

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56040400	C>T	Affects	Genic downstream transcript variant, missense variant, coding sequence variant
rs121909587	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs121909588	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs373359894	G>A,T	Affects	Missense variant, genic downstream transcript variant, coding sequence variant
rs587776846	T>C	Pathogenic	Missense variant, coding sequence variant
rs1554718962	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016535	hsa-miR-193b-3p	Microarray	20304954
MIRT047564	hsa-miR-10a-5p	CLASH	23622248
MIRT848563	hsa-miR-1289	CLIP-seq
MIRT848564	hsa-miR-130a	CLIP-seq
MIRT848565	hsa-miR-130b	CLIP-seq
MIRT848566	hsa-miR-19a	CLIP-seq
MIRT848567	hsa-miR-19b	CLIP-seq
MIRT848568	hsa-miR-301a	CLIP-seq
MIRT848569	hsa-miR-301b	CLIP-seq
MIRT848570	hsa-miR-302a	CLIP-seq
MIRT848571	hsa-miR-302b	CLIP-seq
MIRT848572	hsa-miR-302c	CLIP-seq
MIRT848573	hsa-miR-302d	CLIP-seq
MIRT848574	hsa-miR-302e	CLIP-seq
MIRT848575	hsa-miR-3666	CLIP-seq
MIRT848576	hsa-miR-372	CLIP-seq
MIRT848577	hsa-miR-373	CLIP-seq
MIRT848578	hsa-miR-4295	CLIP-seq
MIRT848579	hsa-miR-4433	CLIP-seq
MIRT848580	hsa-miR-454	CLIP-seq
MIRT848581	hsa-miR-519a	CLIP-seq
MIRT848582	hsa-miR-519b-3p	CLIP-seq
MIRT848583	hsa-miR-519c-3p	CLIP-seq
MIRT848584	hsa-miR-520a-3p	CLIP-seq
MIRT848585	hsa-miR-520b	CLIP-seq
MIRT848586	hsa-miR-520c-3p	CLIP-seq
MIRT848587	hsa-miR-520d-3p	CLIP-seq
MIRT848588	hsa-miR-520e	CLIP-seq
MIRT848589	hsa-miR-548g	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	TAS	7649993
GO:0001701	Process	In utero embryonic development	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9590258, 10820279
GO:0005515	Function	Protein binding	IPI	19528535, 21217642, 25416956, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005579	Component	Membrane attack complex	IDA	22832194
GO:0005615	Component	Extracellular space	TAS	9218605
GO:0006935	Process	Chemotaxis	TAS	10820279
GO:0006954	Process	Inflammatory response	IEA
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	10820279
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0008009	Function	Chemokine activity	TAS	10820279
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IDA	14566334, 16452172
GO:0010760	Process	Negative regulation of macrophage chemotaxis	IDA	14566334
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0019835	Process	Cytolysis	IEA
GO:0030449	Process	Regulation of complement activation	TAS
GO:0032722	Process	Positive regulation of chemokine production	IDA	14566334
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0060326	Process	Cell chemotaxis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 120900
• HGNC: 1331
• e!Ensembl: ENSG00000106804

Protein

• UniProt ID: P01031
• Protein name: Complement C5 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4) [Cleaved into: Complement C5 beta chain; Complement C5 alpha chain; C5a anaphylatoxin; Complement C5b (Complement C5 alpha' chain)]
• Protein function: Precursor of the C5a anaphylatoxin and complement C5b components of the complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (
• PDB: 1CFA, 1KJS, 1XWE, 3CU7, 3HQA, 3HQB, 3KLS, 3KM9, 3PRX, 3PVM, 4A5W, 4E0S, 4P39, 4UU9, 5B4P, 5B71, 5HCC, 5HCD, 5HCE, 5I5K, 6H03, 6H04, 6RPT, 6RQJ, 7AD6, 7AD7, 7NYC, 7NYD, 7Y64, 8B0F, 8B0G, 8B0H, 8HK5, 8HQC, 8IA2, 8JZZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17790	MG1	20 → 120	Macroglobulin domain MG1	Domain
  PF01835	MG2	125 → 219	MG2 domain	Domain
  PF17791	MG3	221 → 309	Macroglobulin domain MG3	Domain
  PF17789	MG4	354 → 457	Macroglobulin domain MG4	Domain
  PF07703	A2M_BRD	467 → 612	Alpha-2-macroglobulin bait region domain	Domain
  PF01821	ANATO	698 → 732	Anaphylotoxin-like domain	Domain
  PF00207	A2M	772 → 859	Alpha-2-macroglobulin family	Family
  PF07678	TED_complement	977 → 1300	A-macroglobulin TED domain	Domain
  PF07677	A2M_recep	1419 → 1509	A-macroglobulin receptor binding domain	Domain
  PF01759	NTR	1550 → 1660	UNC-6/NTR/C345C module	Domain

• Sequence:

  MGLLGILCFLIFLGKTWGQEQTYVISAPKIFRVGASENIVIQVYGYTEAFDATISIKSYP
  DKKFSYSSGHVHLSSENKFQNSAILTIQPKQLPGGQNPVSYVYLEVVSKHFSKSKRMPIT
  YDNGFLFIHTDKPVYTPDQSVKVRVYSLNDDLKPAKRETVLTFIDPEGSEVDMVEEIDHI
  GIISFPDFKIPSNPRYGMWTIKAKYKEDFSTTGTAYFEVKEYVLPHFSVSIEPEYNFIGY
  KNFKNFEITIKARYFYNKVVTEADVYITFGIREDLKDDQKEMMQTAMQNTMLINGIAQVT
  FDSETAVKELSYYSLEDLNNKYLYIAVTVIESTGGFSEEAEIPGIKYVLSPYKLNLVATP
  LFLKPGIPYPIKVQVKDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASF
  VLNLPSGVTVLEFNVKTDAPDLPEENQAREGYRAIAYSSLSQSYLYIDWTDNHKALLVGE
  HLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQSINIPVTQNMVPSSRL
  LVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWV
  ALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANAD
  DSQENDEPCKEILRPRRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISL
  GPRCIKAFTECCVVASQLRANISHKDMQLGRLHMKTLLPVSKPEIRSYFPESWLWEVHLV
  PRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFLEMNIPYSVVRGEQIQ
  LKGTVYNYRTSGMQFCVKMSAVEGICTSESPVIDHQGTKSSKCVRQKVEGSSSHLVTFTV
  LPLEIGLHNINFSLETWFGKEILVKTLRVVPEGVKRESYSGVTLDPRGIYGTISRRKEFP
  YRIPLDLVPKTEIKRILSVKGLLVGEILSAVLSQEGINILTHLPKGSAEAELMSVVPVFY
  VFHYLETGNHWNIFHSDPLIEKQKLKKKLKEGMLSIMSYRNADYSYSVWKGGSASTWLTA
  FALRVLGQVNKYVEQNQNSICNSLLWLVENYQLDNGSFKENSQYQPIKLQGTLPVEAREN
  SLYLTAFTVIGIRKAFDICPLVKIDTALIKADNFLLENTLPAQSTFTLAISAYALSLGDK
  THPQFRSIVSALKREALVKGNPPIYRFWKDNLQHKDSSVPNTGTARMVETTAYALLTSLN
  LKDINYVNPVIKWLSEEQRYGGGFYSTQDTINAIEGLTEYSLLVKQLRLSMDIDVSYKHK
  GALHNYKMTDKNFLGRPVEVLLNDDLIVSTGFGSGLATVHVTTVVHKTSTSEEVCSFYLK
  IDTQDIEASHYRGYGNSDYKRIVACASYKPSREESSSGSSHAVMDISLPTGISANEEDLK
  ALVEGVDQLFTDYQIKDGHVILQLNSIPSSDFLCVRFRIFELFEVGFLSPATFTVYEYHR
  PDKQCTMFYSTSNIKIQKVCEGAACKCVEADCGQMQEELDLTISAETRKQTACKPEIAYA
  YKVSITSITVENVFVKYKATLLDIYKTGEAVAEKDSEITFIKKVTCTNAELVKGRQYLIM
  GKEALQIKYNFSFRYIYPLDSLTWIEYWPRDTTCSSCQAFLANLDEFAEDIFLNGC

• Sequence length: 1676

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Complement and coagulation cascades
Neutrophil extracellular trap formation
Regulation of actin cytoskeleton
Alcoholic liver disease
Prion disease
Pertussis
Staphylococcus aureus infection
Herpes simplex virus 1 infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus

Reactome:

Terminal pathway of complement
Activation of C3 and C5
Peptide ligand-binding receptors
G alpha (i) signalling events
Regulation of Complement cascade

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Complement component deficiency	Complement deficiency disease, Complement component 5 deficiency	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	25534848
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Immunodeficiency	Immunodeficiency due to a late component of 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
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	19503088, 17804836

Unknown
Disease name	Disease term	dbSNP ID	References
Antibody deficiency syndrome	Antibody Deficiency Syndrome		7730648
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes		7730648
Lupus erythematosus	Lupus Erythematosus, Discoid		1999552
Peritonitis	Primary Peritonitis, Secondary Peritonitis		19284563, 19346296
Seborrheic dermatitis	Generalized seborrheic dermatitis