C5 (complement C5)

Gene

• Entrez ID: 727
• Gene name: Complement C5
• Gene symbol: C5
• Synonyms (NCBI Gene): 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:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001867	Process	Complement activation, lectin pathway	IDA	12878586
GO:0002376	Process	Immune system process	IEA
GO:0002682	Process	Regulation of immune system process	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	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005579	Component	Membrane attack complex	IDA	22832194, 26841837, 27052168, 30552328, 30643019, 31061395, 32569291, 36797260
GO:0005579	Component	Membrane attack complex	IEA
GO:0005615	Component	Extracellular space	IDA	37852260
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	9218605
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	TAS	10820279
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	8759757
GO:0006956	Process	Complement activation	IDA	26841837, 27052168, 32569291, 37852260
GO:0006956	Process	Complement activation	IEA
GO:0006957	Process	Complement activation, alternative pathway	IDA	30643019
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IDA	12878586
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	10820279
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8898085
GO:0008009	Function	Chemokine activity	IDA	342601, 5765461, 36806352, 37169960, 37852260
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:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0030595	Process	Leukocyte chemotaxis	IDA	342601, 5765461
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0032722	Process	Positive regulation of chemokine production	IDA	14566334
GO:0044218	Component	Other organism cell membrane	IDA	27052168, 30643019, 32569291
GO:0044218	Component	Other organism cell membrane	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0048018	Function	Receptor ligand activity	IDA	37852260
GO:0050920	Process	Regulation of chemotaxis	IEA
GO:0060326	Process	Cell chemotaxis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:1902495	Component	Transmembrane transporter complex	IDA	30552328

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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
C5-related disorder	Pathogenic	rs121909587	RCV004751216
Complement component 5 deficiency	Likely pathogenic; Pathogenic	rs191466386, rs1408798589, rs750416999, rs121909587, rs121909588, rs387906554, rs587776846, rs1554718962	RCV002492315 RCV002492116 RCV002497971 RCV001535994 RCV000018579 RCV000018580 RCV000018581 RCV000601577
Eculizumab, poor response to	Likely pathogenic; Pathogenic	rs191466386, rs1408798589, rs750416999, rs121909587, rs121909588	RCV002492315 RCV002492116 RCV002497971 RCV001535994 RCV002504806
Lathosterolosis	Pathogenic	rs121909587	RCV004018641

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs12237774	RCV005914456
Adrenocortical carcinoma, hereditary	Benign	rs12237774	RCV005914457
Cervical cancer	Benign	rs3217100	RCV005867089
Cholangiocarcinoma	Benign	rs3217100	RCV005867091
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs12237774, rs141704823	RCV005914455 RCV005914473
Familial cancer of breast	Likely benign	rs78640581	RCV005912832
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	rs78640581, rs145461325	RCV005912834 RCV005926031
Malignant lymphoma, large B-cell, diffuse	Benign	rs12237774, rs3217100	RCV005914458 RCV005867090
Malignant tumor of urinary bladder	Likely benign	rs78640581	RCV005912833
Melanoma	Benign; Likely benign	rs12237774, rs377477933	RCV005914461 RCV005930622
Nonpapillary renal cell carcinoma	Benign	rs3217100	RCV005867088
Ovarian serous cystadenocarcinoma	Likely benign	rs78640581	RCV005912835
Prostate cancer	Uncertain significance	rs193920993	RCV000149117
Sarcoma	Benign	rs12237774	RCV005914459
Thymoma	Benign	rs12237774	RCV005914460
Uterine corpus endometrial carcinoma	Likely benign	rs78640581, rs142341763, rs777160561	RCV005912836 RCV005924264 RCV005926223

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	34002800
Arthritis Psoriatic	Associate	25725109
Arthritis Rheumatoid	Associate	18759306, 25566937, 25725109
Asthma	Associate	35205259
Atherosclerosis	Associate	32327104
Atypical Hemolytic Uremic Syndrome	Associate	24652797
Behcet Syndrome	Associate	26269006
Cognition Disorders	Associate	23662819
Complement component 5 deficiency	Associate	25534848
COVID 19	Associate	32961333, 35967361
Diabetes Gestational	Associate	36080270
Diabetes Mellitus Type 2	Associate	26934706
Diabetic Nephropathies	Associate	38069385
Diabetic Retinopathy	Associate	26989329
Epilepsy	Associate	38282487
Fetal Growth Retardation	Associate	38069155
Hepatitis Alcoholic	Associate	35490715
IgA Vasculitis	Associate	40717085
Infarction	Associate	27234505
Inflammation	Associate	17804836, 35205259
Joint Diseases	Associate	25566937
Lymphoma Non Hodgkin	Associate	19344414
Macular Degeneration	Associate	20022638
Meningococcal Infections	Associate	25534848
Metabolic Syndrome	Associate	19619703
N syndrome	Associate	32766853
Neoplasms	Associate	34839352
Neurologic Manifestations	Associate	38282487
Osteoarthritis	Associate	35406699
Parkinson Disease	Associate	33216044
Periodontitis	Associate	19909405
Pigmentary Disorder Reticulate with Systemic Manifestations	Associate	26989329
Pre Eclampsia	Stimulate	24296084
Pre Eclampsia	Associate	35373096
Premature Birth	Stimulate	37356366
Primary angiitis of the central nervous system	Associate	31270218
Protein Losing Enteropathies	Associate	33398182
Respiratory Distress Syndrome	Inhibit	32961333
Retinal Vein Occlusion	Associate	33270842
Status Asthmaticus	Associate	35205259
Substance Related Disorders	Associate	35967361
Vision Disorders	Associate	38282487