Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
718
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C3
Synonyms (NCBI Gene) Gene synonyms aliases
AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AHUS5, ARMD9
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2230199 G>C,T Risk-factor, benign Coding sequence variant, missense variant
rs11569534 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs11569541 A>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs111595742 T>A,C Pathogenic Splice acceptor variant
rs121909583 C>T Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027814 hsa-miR-98-5p Microarray 19088304
MIRT030181 hsa-miR-26b-5p Microarray 19088304
MIRT696544 hsa-miR-1273g-3p HITS-CLIP 23313552
MIRT542444 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT542445 hsa-miR-939-3p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
CEBPD Unknown 8385337
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001798 Process Positive regulation of type IIa hypersensitivity IEA
GO:0001934 Process Positive regulation of protein phosphorylation IDA 15833747
GO:0001970 Process Positive regulation of activation of membrane attack complex IEA
GO:0004866 Function Endopeptidase inhibitor activity IEA
GO:0005102 Function Signaling receptor binding TAS 9164946
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120700 1318 ENSG00000125730
Protein
UniProt ID P01024
Protein name Complement C3 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1) [Cleaved into: Complement C3 beta chain; C3-beta-c (C3bc); Complement C3 alpha chain; C3a anaphylatoxin; Acylation stimulating protein (ASP) (C3adesArg); Complement C3b (Com
Protein function Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive im
PDB 1C3D , 1GHQ , 1W2S , 2A73 , 2A74 , 2GOX , 2I07 , 2ICE , 2ICF , 2NOJ , 2QKI , 2WII , 2WIN , 2WY7 , 2WY8 , 2XQW , 2XWB , 2XWJ , 3D5R , 3D5S , 3G6J , 3L3O , 3L5N , 3NMS , 3OED , 3OHX , 3OXU , 3RJ3 , 3T4A , 4HW5 , 4HWJ , 4I6O , 4M76 , 4ONT , 4ZH1 , 5FO7 , 5FO8 , 5FO9 , 5FOA , 5FOB , 5NBQ , 5O32 , 5O35 , 6EHG , 6RMT , 6RMU , 6RUR , 6RUV , 6S0B , 6YO6 , 7AKK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17790 MG1 23 124 Macroglobulin domain MG1 Domain
PF01835 MG2 129 224 MG2 domain Domain
PF17791 MG3 226 308 Macroglobulin domain MG3 Domain
PF17789 MG4 355 446 Macroglobulin domain MG4 Domain
PF07703 A2M_BRD 456 605 Alpha-2-macroglobulin bait region domain Domain
PF01821 ANATO 693 728 Anaphylotoxin-like domain Domain
PF00207 A2M 770 866 Alpha-2-macroglobulin family Family
PF07678 TED_complement 983 1282 A-macroglobulin TED domain Domain
PF07677 A2M_recep 1398 1493 A-macroglobulin receptor binding domain Domain
PF01759 NTR 1534 1644 UNC-6/NTR/C345C module Domain
Tissue specificity TISSUE SPECIFICITY: Plasma. {ECO:0000269|PubMed:9555951}.; TISSUE SPECIFICITY: [Acylation stimulating protein]: Produced in adipocytes and released into the plasma during both the fasting and postprandial periods. {ECO:0000269|PubMed:15833747}.
Sequence
MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVH
DFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKV
VLVS
LQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSL
SSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEV
KEYVLPSFEVIVEPTE
KFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEV
VLSRKVLL
DGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKT
PKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPL
SITVRTKKQELSEAEQATRTMQALPY
STVGNSNNYLHLSVLRTELRPGETLNVNFLLRMD
RAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGA
SGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDK
GVFVL
NKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAEL
QCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEAC
KKVFLDCC
NYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKE
PPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVV
RNEQVEIRAVLYNYRQNQELKVRVEL
LHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVI
VPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKE
DIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTP
TVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTA
YVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKD
MALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMG
RLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQR
YYGGGYGSTQATFMVFQALAQY
QKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLR
SEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDA
KNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSD
RNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFY
HPEKEDG
KLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDE
YIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSY
IIGKDTWVEHWPEEDECQDEENQK
QCQDLGAFTESMVVFGCPN
Sequence length 1663
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hemolytic Uremic Syndrome atypical hemolytic-uremic syndrome with C3 anomaly GenCC
C3 Glomerulonephritis C3 glomerulonephritis GenCC
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Macular Degeneration Macular Degeneration GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 30131807
Acute Kidney Injury Associate 25523333, 33801801
Adenocarcinoma Associate 9528886
Alternating hemiplegia of childhood Associate 20852386, 21555552, 33519811
Alzheimer Disease Associate 21403675, 32831200, 35387811
Anemia Sickle Cell Associate 30630982
Arthritis Rheumatoid Associate 32884942, 3486637
Asthma Associate 32817007
Astrocytoma Associate 10349852
Atherosclerosis Associate 22194611, 31829184