mutLBSgeneDB |
Gene summary for C3 |
Gene summary |
Basic gene Info. | Gene symbol | C3 |
Gene name | complement component 3 | |
Synonyms | AHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p | |
Cytomap | UCSC genome browser: 19p13.3-p13.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000064.3, | |
Description | C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement C3complement component C3complement component C3acomplement component C3bepididymis secretory sperm binding p | |
Modification date | 20141221 | |
dbXrefs | MIM : 120700 | |
HGNC : HGNC | ||
Ensembl : ENSG00000125730 | ||
HPRD : 00400 | ||
Vega : OTTHUMG00000150335 | ||
Protein | UniProt: P01024 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_C3 | |
BioGPS: 718 | ||
Pathway | NCI Pathway Interaction Database: C3 | |
KEGG: C3 | ||
REACTOME: C3 | ||
Pathway Commons: C3 | ||
Context | iHOP: C3 | |
ligand binding site mutation search in PubMed: C3 | ||
UCL Cancer Institute: C3 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0001934 | positive regulation of protein phosphorylation | 15833747 | GO:0010575 | positive regulation vascular endothelial growth factor production | 16452172 | GO:0010828 | positive regulation of glucose transport | 15833747 | GO:0010866 | regulation of triglyceride biosynthetic process | 10432298 | GO:0010884 | positive regulation of lipid storage | 9555951 | GO:0045745 | positive regulation of G-protein coupled receptor protein signaling pathway | 15833747 |
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Ligand binding site mutations for C3 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | E484 | E484D | BRCA | 1 | C1010 | S1008P | COAD | 1 | R481 | R481H | GBM | 1 | R508 | V507L | LUAD | 1 | E484 | E484K | SKCM | 1 | M368 | M368R | SKCM | 1 | P369 | D371Y | SKCM | 1 | R481 | A482T | STAD | 1 | C1010 | S1008L | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for C3 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | M368 | M368R | -1.5908209 | R481 | R481H | -0.921338 | R481 | A482T | -0.76448107 | P369 | D371Y | -0.75609766 | R508 | V507L | -0.59420571 | C1010 | S1008P | -0.5832238 | E484 | E484K | -0.41359267 | E484 | E484D | -0.37196334 | C1010 | S1008L | -0.16514985 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for C3 from PDB |
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Differential gene expression and gene-gene network for C3 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for C3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0242383 | Macular Degeneration | 41 | Biomarker, GeneticVariation |
umls:C0011860 | Diabetes Mellitus, Type 2 | 3 | Biomarker |
umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 2 | Biomarker |
umls:C1332655 | C3 Deficiency | 2 | Biomarker, GeneticVariation |
umls:C0860207 | Drug-Induced Liver Injury | 1 | Biomarker |
umls:C0021051 | Immunologic Deficiency Syndromes | 1 | Biomarker |
umls:C0021655 | Insulin Resistance | 1 | Biomarker |
umls:C0030524 | Paratuberculosis | 1 | Biomarker |
umls:C0030807 | Pemphigus | 1 | Biomarker |
umls:C0034152 | Purpura, Schoenlein-Henoch | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for C3 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|investigational | DB00028 | Immune Globulin Human | Biotech | |
Experimental | DB01915 | S-Hydroxycysteine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of C3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of C3 |
Multiple alignments for P01024 in multiple species |
LBS | AA sequence | # species | Species | A1068 | SSAFAAFVKRA | 1 | Homo sapiens | A1068 | SSAYAAFQYRP | 1 | Bos taurus | A1068 | SSAYAAFNNRP | 1 | Mus musculus | A1068 | ISAYAAFNNRP | 1 | Rattus norvegicus | C1010 | VTPSGCGEQNM | 2 | Homo sapiens, Rattus norvegicus | C1010 | QTPSGCGEQNM | 1 | Bos taurus | C1010 | VTPAGCGEQNM | 1 | Mus musculus | D513 | REPGQDLVVLP | 2 | Homo sapiens, Bos taurus | D513 | REPGQDLVVLS | 2 | Mus musculus, Rattus norvegicus | D554 | DSVWVDVKDSC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D557 | WVDVKDSCVGS | 1 | Homo sapiens | D557 | WVDVKDSCMGT | 1 | Bos taurus | D557 | WVDVKDSCIGT | 1 | Mus musculus | D557 | WVDVKDSCVGT | 1 | Rattus norvegicus | E484 | MDRAHEAKIRY | 1 | Homo sapiens | E484 | TDPGEQAKIRY | 1 | Bos taurus | E484 | TDPGHEAKIRY | 1 | Mus musculus | E484 | TDAGQEAKIRY | 1 | Rattus norvegicus | E621 | IWDVVEKADIG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G367 | KFFKPAMPFDL | 3 | Bos taurus, Mus musculus, Rattus norvegicus | G367 | KYFKPGMPFDL | 1 | Homo sapiens | G511 | QVREPGQDLVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G511 | QYREPGQDLVV | 1 | Bos taurus | H414 | LSINTHPSQKP | 1 | Homo sapiens | H414 | LSINTQNKRDP | 1 | Bos taurus | H414 | LSINTPNSRQP | 1 | Mus musculus | H414 | LSVNTPNNRQP | 1 | Rattus norvegicus | I1125 | EDGPVIHQEMI | 3 | Bos taurus, Mus musculus, Rattus norvegicus | I1125 | EDAPVIHQEMI | 1 | Homo sapiens | L476 | LNVNFHLRTDP | 2 | Bos taurus, Mus musculus | L476 | LNVNFLLRMDR | 1 | Homo sapiens | L476 | LNVNFHLRTDA | 1 | Rattus norvegicus | L477 | NVNFHLRTDPG | 2 | Bos taurus, Mus musculus | L477 | NVNFLLRMDRA | 1 | Homo sapiens | L477 | NVNFHLRTDAG | 1 | Rattus norvegicus | L514 | EPGQDLVVLPL | 2 | Homo sapiens, Bos taurus | L514 | EPGQDLVVLSL | 2 | Mus musculus, Rattus norvegicus | M368 | FFKPAMPFDLM | 3 | Bos taurus, Mus musculus, Rattus norvegicus | M368 | YFKPGMPFDLM | 1 | Homo sapiens | M479 | NFLLRMDRAHE | 1 | Homo sapiens | M479 | NFHLRTDPGEQ | 1 | Bos taurus | M479 | NFHLRTDPGHE | 1 | Mus musculus | M479 | NFHLRTDAGQE | 1 | Rattus norvegicus | N412 | AKLSINTHPSQ | 1 | Homo sapiens | N412 | AKLSINTQNKR | 1 | Bos taurus | N412 | AKLSINTPNSR | 1 | Mus musculus | N412 | AKLSVNTPNNR | 1 | Rattus norvegicus | P369 | FKPAMPFDLMV | 3 | Bos taurus, Mus musculus, Rattus norvegicus | P369 | FKPGMPFDLMV | 1 | Homo sapiens | P415 | SINTHPSQKPL | 1 | Homo sapiens | P415 | SINTQNKRDPL | 1 | Bos taurus | P415 | SINTPNSRQPL | 1 | Mus musculus | P415 | SVNTPNNRQPL | 1 | Rattus norvegicus | P527 | TPEFIPSFRLV | 2 | Mus musculus, Rattus norvegicus | P527 | TTDFIPSFRLV | 1 | Homo sapiens | P527 | TSDFIPSFRLV | 1 | Bos taurus | Q1013 | SGCGEQNMIGM | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | Q1013 | AGCGEQNMIGM | 1 | Mus musculus | R478 | VNFLLRMDRAH | 1 | Homo sapiens | R478 | VNFHLRTDPGE | 1 | Bos taurus | R478 | VNFHLRTDPGH | 1 | Mus musculus | R478 | VNFHLRTDAGQ | 1 | Rattus norvegicus | R481 | LLRMDRAHEAK | 1 | Homo sapiens | R481 | HLRTDPGEQAK | 1 | Bos taurus | R481 | HLRTDPGHEAK | 1 | Mus musculus | R481 | HLRTDAGQEAK | 1 | Rattus norvegicus | R508 | AGRQVREPGQD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R508 | VGRQYREPGQD | 1 | Bos taurus | S410 | GVAKLSINTHP | 1 | Homo sapiens | S410 | GVAKLSINTQN | 1 | Bos taurus | S410 | GVAKLSINTPN | 1 | Mus musculus | S410 | GVAKLSVNTPN | 1 | Rattus norvegicus | S528 | PEFIPSFRLVA | 2 | Mus musculus, Rattus norvegicus | S528 | TDFIPSFRLVA | 1 | Homo sapiens | S528 | SDFIPSFRLVA | 1 | Bos taurus | T413 | KLSINTHPSQK | 1 | Homo sapiens | T413 | KLSINTQNKRD | 1 | Bos taurus | T413 | KLSINTPNSRQ | 1 | Mus musculus | T413 | KLSVNTPNNRQ | 1 | Rattus norvegicus | V555 | SVWVDVKDSCV | 2 | Homo sapiens, Rattus norvegicus | V555 | SVWVDVKDSCM | 1 | Bos taurus | V555 | SVWVDVKDSCI | 1 | Mus musculus |
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