Gene Page: C4A
Summary ?
| GeneID | 720 |
| Symbol | C4A |
| Synonyms | C4|C4A2|C4A3|C4A4|C4A6|C4AD|C4S|CO4|CPAMD2|RG |
| Description | complement component 4A (Rodgers blood group) |
| Reference | MIM:120810|HGNC:HGNC:1323|Ensembl:ENSG00000244731|HPRD:00401|Vega:OTTHUMG00000031186 |
| Gene type | protein-coding |
| Map location | 6p21.3 |
| Pascal p-value | 2.016E-9 |
| eGene | Anterior cingulate cortex BA24 Caudate basal ganglia Cerebellar Hemisphere Cerebellum Frontal Cortex BA9 Hypothalamus Putamen basal ganglia Myers' cis & trans Meta |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| PMID:cooccur | High-throughput literature-search | Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included. | |
| Association | A combined odds ratio method (Sun et al. 2008), association studies | 1 | Link to SZGene |
| GSMA_I | Genome scan meta-analysis | Psr: 0.033 | |
| Literature | High-throughput literature-search | Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenias | Click to show details |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs2523533 | chr6 | 31336648 | C4A | 720 | 0.19 | cis | ||
| rs596985 | chr1 | 64277034 | C4A | 720 | 0.03 | trans | ||
| rs538670797 | 6 | 32435351 | C4A | ENSG00000244731.3 | 2.133E-7 | 0.01 | 485550 | gtex_brain_ba24 |
| rs535195653 | 6 | 32453064 | C4A | ENSG00000244731.3 | 1.587E-7 | 0.01 | 503263 | gtex_brain_ba24 |
| rs527371188 | 6 | 32453819 | C4A | ENSG00000244731.3 | 2.085E-7 | 0.01 | 504018 | gtex_brain_ba24 |
| rs9272139 | 6 | 32600765 | C4A | ENSG00000244731.3 | 1.607E-7 | 0.01 | 650964 | gtex_brain_ba24 |
| rs9272202 | 6 | 32601885 | C4A | ENSG00000244731.3 | 1.565E-7 | 0.01 | 652084 | gtex_brain_ba24 |
| rs9272209 | 6 | 32601977 | C4A | ENSG00000244731.3 | 1.55E-7 | 0.01 | 652176 | gtex_brain_ba24 |
| rs2040410 | 6 | 32602698 | C4A | ENSG00000244731.3 | 1.687E-7 | 0.01 | 652897 | gtex_brain_ba24 |
| rs2040409 | 6 | 32602760 | C4A | ENSG00000244731.3 | 1.696E-7 | 0.01 | 652959 | gtex_brain_ba24 |
| rs6910310 | 6 | 32604221 | C4A | ENSG00000244731.3 | 1.658E-7 | 0.01 | 654420 | gtex_brain_ba24 |
| rs6933289 | 6 | 32604551 | C4A | ENSG00000244731.3 | 1.63E-7 | 0.01 | 654750 | gtex_brain_ba24 |
| rs2187668 | 6 | 32605884 | C4A | ENSG00000244731.3 | 1.597E-7 | 0.01 | 656083 | gtex_brain_ba24 |
| rs78045276 | 6 | 32605935 | C4A | ENSG00000244731.3 | 1.593E-7 | 0.01 | 656134 | gtex_brain_ba24 |
| rs7763805 | 6 | 32607254 | C4A | ENSG00000244731.3 | 1.384E-7 | 0.01 | 657453 | gtex_brain_ba24 |
| rs2284189 | 6 | 32607396 | C4A | ENSG00000244731.3 | 1.359E-7 | 0.01 | 657595 | gtex_brain_ba24 |
| rs9272729 | 6 | 32609594 | C4A | ENSG00000244731.3 | 1.613E-7 | 0.01 | 659793 | gtex_brain_ba24 |
| rs1138373 | 6 | 32610952 | C4A | ENSG00000244731.3 | 1.646E-7 | 0.01 | 661151 | gtex_brain_ba24 |
| rs201571916 | 6 | 32611196 | C4A | ENSG00000244731.3 | 1.458E-7 | 0.01 | 661395 | gtex_brain_ba24 |
| . | 6 | 32613026 | C4A | ENSG00000244731.3 | 2.072E-7 | 0.01 | 663225 | gtex_brain_ba24 |
| rs9273181 | 6 | 32613313 | C4A | ENSG00000244731.3 | 2.081E-7 | 0.01 | 663512 | gtex_brain_ba24 |
| rs3998176 | 6 | 32614127 | C4A | ENSG00000244731.3 | 2.942E-7 | 0.01 | 664326 | gtex_brain_ba24 |
| rs201130575 | 6 | 32620654 | C4A | ENSG00000244731.3 | 2.658E-7 | 0.01 | 670853 | gtex_brain_ba24 |
| . | 6 | 32623223 | C4A | ENSG00000244731.3 | 2.163E-7 | 0.01 | 673422 | gtex_brain_ba24 |
| rs9273369 | 6 | 32626484 | C4A | ENSG00000244731.3 | 2.163E-7 | 0.01 | 676683 | gtex_brain_ba24 |
| rs2854277 | 6 | 32628084 | C4A | ENSG00000244731.3 | 2.096E-7 | 0.01 | 678283 | gtex_brain_ba24 |
| rs2854275 | 6 | 32628428 | C4A | ENSG00000244731.3 | 2.163E-7 | 0.01 | 678627 | gtex_brain_ba24 |
| rs2395231 | 6 | 32637302 | C4A | ENSG00000244731.3 | 1.502E-8 | 0.01 | 687501 | gtex_brain_ba24 |
| rs7745636 | 6 | 32641904 | C4A | ENSG00000244731.3 | 1.442E-7 | 0.01 | 692103 | gtex_brain_ba24 |
| rs3129779 | 6 | 32646927 | C4A | ENSG00000244731.3 | 1.47E-8 | 0.01 | 697126 | gtex_brain_ba24 |
| rs11375296 | 6 | 32651429 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 701628 | gtex_brain_ba24 |
| rs3134978 | 6 | 32651477 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 701676 | gtex_brain_ba24 |
| rs3134977 | 6 | 32651641 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 701840 | gtex_brain_ba24 |
| rs2856694 | 6 | 32652281 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 702480 | gtex_brain_ba24 |
| rs3134971 | 6 | 32654149 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 704348 | gtex_brain_ba24 |
| rs3129716 | 6 | 32657436 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 707635 | gtex_brain_ba24 |
| rs2647004 | 6 | 32659609 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 709808 | gtex_brain_ba24 |
| rs2856674 | 6 | 32659645 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 709844 | gtex_brain_ba24 |
| rs1794520 | 6 | 32662338 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 712537 | gtex_brain_ba24 |
| rs1794519 | 6 | 32662473 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 712672 | gtex_brain_ba24 |
| rs2647019 | 6 | 32663355 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 713554 | gtex_brain_ba24 |
| rs1794283 | 6 | 32666358 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 716557 | gtex_brain_ba24 |
| rs1794282 | 6 | 32666526 | C4A | ENSG00000244731.3 | 1.391E-8 | 0.01 | 716725 | gtex_brain_ba24 |
| rs1794280 | 6 | 32667171 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 717370 | gtex_brain_ba24 |
| rs1794279 | 6 | 32667595 | C4A | ENSG00000244731.3 | 1.155E-8 | 0.01 | 717794 | gtex_brain_ba24 |
| rs2647044 | 6 | 32667910 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 718109 | gtex_brain_ba24 |
| rs1613056 | 6 | 32668946 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 719145 | gtex_brain_ba24 |
| rs1794511 | 6 | 32671207 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 721406 | gtex_brain_ba24 |
| rs1794530 | 6 | 32671800 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 721999 | gtex_brain_ba24 |
| rs1794274 | 6 | 32672043 | C4A | ENSG00000244731.3 | 1.09E-7 | 0.01 | 722242 | gtex_brain_ba24 |
| rs1794272 | 6 | 32672216 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 722415 | gtex_brain_ba24 |
| rs1794528 | 6 | 32672439 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 722638 | gtex_brain_ba24 |
| rs1617322 | 6 | 32673893 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 724092 | gtex_brain_ba24 |
| rs9275576 | 6 | 32679326 | C4A | ENSG00000244731.3 | 1.094E-7 | 0.01 | 729525 | gtex_brain_ba24 |
| rs1634713 | 6 | 30951020 | C4A | ENSG00000244731.3 | 3.097E-7 | 0.01 | -998781 | gtex_brain_putamen_basal |
| rs1634714 | 6 | 30951561 | C4A | ENSG00000244731.3 | 3.954E-8 | 0.01 | -998240 | gtex_brain_putamen_basal |
| rs886403 | 6 | 30957618 | C4A | ENSG00000244731.3 | 3.097E-7 | 0.01 | -992183 | gtex_brain_putamen_basal |
| rs1632864 | 6 | 30962469 | C4A | ENSG00000244731.3 | 3.954E-8 | 0.01 | -987332 | gtex_brain_putamen_basal |
| rs1632857 | 6 | 30971016 | C4A | ENSG00000244731.3 | 2.15E-7 | 0.01 | -978785 | gtex_brain_putamen_basal |
| rs1632856 | 6 | 30971736 | C4A | ENSG00000244731.3 | 2.15E-7 | 0.01 | -978065 | gtex_brain_putamen_basal |
| rs1632855 | 6 | 30971769 | C4A | ENSG00000244731.3 | 6.716E-8 | 0.01 | -978032 | gtex_brain_putamen_basal |
| rs1634719 | 6 | 30973165 | C4A | ENSG00000244731.3 | 2.15E-7 | 0.01 | -976636 | gtex_brain_putamen_basal |
| rs1634724 | 6 | 30981753 | C4A | ENSG00000244731.3 | 2.072E-7 | 0.01 | -968048 | gtex_brain_putamen_basal |
| rs386491819 | 6 | 30982008 | C4A | ENSG00000244731.3 | 2.151E-7 | 0.01 | -967793 | gtex_brain_putamen_basal |
| rs1345230 | 6 | 30986312 | C4A | ENSG00000244731.3 | 3.954E-8 | 0.01 | -963489 | gtex_brain_putamen_basal |
| rs28626310 | 6 | 31239449 | C4A | ENSG00000244731.3 | 1.215E-7 | 0.01 | -710352 | gtex_brain_putamen_basal |
| rs2524086 | 6 | 31241311 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -708490 | gtex_brain_putamen_basal |
| rs2853949 | 6 | 31241664 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -708137 | gtex_brain_putamen_basal |
| rs2524078 | 6 | 31242649 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -707152 | gtex_brain_putamen_basal |
| rs2844614 | 6 | 31243540 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -706261 | gtex_brain_putamen_basal |
| rs2844613 | 6 | 31243846 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -705955 | gtex_brain_putamen_basal |
| rs2853947 | 6 | 31245796 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -704005 | gtex_brain_putamen_basal |
| rs2524067 | 6 | 31245821 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -703980 | gtex_brain_putamen_basal |
| rs2524065 | 6 | 31246324 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -703477 | gtex_brain_putamen_basal |
| rs2844609 | 6 | 31247390 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -702411 | gtex_brain_putamen_basal |
| rs2853945 | 6 | 31247736 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -702065 | gtex_brain_putamen_basal |
| rs2853942 | 6 | 31248169 | C4A | ENSG00000244731.3 | 3.445E-7 | 0.01 | -701632 | gtex_brain_putamen_basal |
| rs9265453 | 6 | 31296556 | C4A | ENSG00000244731.3 | 4.111E-7 | 0.01 | -653245 | gtex_brain_putamen_basal |
| rs9267226 | 6 | 31455011 | C4A | ENSG00000244731.3 | 2.919E-7 | 0.01 | -494790 | gtex_brain_putamen_basal |
| rs9268510 | 6 | 32378503 | C4A | ENSG00000244731.3 | 2.666E-8 | 0.01 | 428702 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0005515 | protein binding | IEA | - | |
| GO:0004866 | endopeptidase inhibitor activity | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006957 | complement activation, alternative pathway | EXP | 162484 | |
| GO:0006958 | complement activation, classical pathway | IEA | - | |
| GO:0006956 | complement activation | IEA | - | |
| GO:0006954 | inflammatory response | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005576 | extracellular region | EXP | 6019133 |12878586 |15199963 | |
| GO:0005576 | extracellular region | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG COMPLEMENT AND COAGULATION CASCADES | 69 | 49 | All SZGR 2.0 genes in this pathway |
| KEGG SYSTEMIC LUPUS ERYTHEMATOSUS | 140 | 100 | All SZGR 2.0 genes in this pathway |
| BIOCARTA CLASSIC PATHWAY | 14 | 11 | All SZGR 2.0 genes in this pathway |
| BIOCARTA COMP PATHWAY | 19 | 15 | All SZGR 2.0 genes in this pathway |
| BIOCARTA LECTIN PATHWAY | 12 | 10 | All SZGR 2.0 genes in this pathway |
| REACTOME REGULATION OF COMPLEMENT CASCADE | 14 | 12 | All SZGR 2.0 genes in this pathway |
| REACTOME INNATE IMMUNE SYSTEM | 279 | 178 | All SZGR 2.0 genes in this pathway |
| REACTOME IMMUNE SYSTEM | 933 | 616 | All SZGR 2.0 genes in this pathway |
| REACTOME COMPLEMENT CASCADE | 32 | 22 | All SZGR 2.0 genes in this pathway |
| REACTOME INITIAL TRIGGERING OF COMPLEMENT | 16 | 10 | All SZGR 2.0 genes in this pathway |
| DELYS THYROID CANCER UP | 443 | 294 | All SZGR 2.0 genes in this pathway |
| WANG ESOPHAGUS CANCER VS NORMAL UP | 121 | 72 | All SZGR 2.0 genes in this pathway |
| LINDGREN BLADDER CANCER CLUSTER 2B | 392 | 251 | All SZGR 2.0 genes in this pathway |
| SHEPARD BMYB MORPHOLINO UP | 205 | 126 | All SZGR 2.0 genes in this pathway |
| SANSOM APC TARGETS DN | 366 | 238 | All SZGR 2.0 genes in this pathway |
| HU GENOTOXIN ACTION DIRECT VS INDIRECT 24HR | 55 | 38 | All SZGR 2.0 genes in this pathway |
| VANTVEER BREAST CANCER ESR1 UP | 167 | 99 | All SZGR 2.0 genes in this pathway |
| HOSHIDA LIVER CANCER SUBCLASS S3 | 266 | 180 | All SZGR 2.0 genes in this pathway |
| WHITFIELD CELL CYCLE M G1 | 148 | 95 | All SZGR 2.0 genes in this pathway |
| DEMAGALHAES AGING UP | 55 | 39 | All SZGR 2.0 genes in this pathway |