View on GenomicsDBv4 beta site   

C4A - ENSG00000244731

complement C4A (Rodgers blood group)

Also known as: CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG

Location: chr6:31,949,801-31,970,458

Gene Type: protein coding

More information
NCBI Gene
720
HUGO
HGNC:1323
Ensembl
ENSG00000244731
VEGA
OTTHUMG00000031186
OMIM
120810
UniProtKB
P0C0L4

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

Back to Top

ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the C4A gene.

Back to Top

The C4A gene contains 407 variants records (corresponding to 386 unique genomic positions).

The following variants, contained within ±100kb of C4A, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of C4A that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

Back to Top

Login in to select variants and add them to your basket.

Relative Position Variant ADSP? Allele p-Value Track Accession
downstream N/A 3.6e-28 ADSP Single-Variant Risk Association: European (Model 2) NG00065
downstream N/A 3.6e-28 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
downstream N/A 3.6e-28 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065
downstream N/A 1.4e-15 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
downstream N/A 1.4e-15 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
downstream N/A 1.4e-15 ADSP Single-Variant Risk Association: European (Model 1) NG00065

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of C4A that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of C4A, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of C4A that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of C4A that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

Back to Top

Explore all functional genomics annotations within the region of the C4A gene (chr6:31949801-31970458)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

Back to Top
Ontology GO Accession Term Evidence Code
BP GO:0006956 complement activation TAS,IGI,IEA
BP GO:0006958 complement activation, classical pathway IEA
BP GO:0002376 immune system process IEA
BP GO:0006954 inflammatory response IEA
BP GO:0045087 innate immune response IEA
BP GO:0010951 negative regulation of endopeptidase activity IEA
BP GO:2000427 positive regulation of apoptotic cell clearance IGI
BP GO:0006508 proteolysis IEA
BP GO:0030449 regulation of complement activation TAS
CC GO:0030424 axon IDA,IEA
CC GO:0072562 blood microparticle IDA
CC GO:0030054 cell junction IEA
CC GO:0042995 cell projection IEA
CC GO:0030425 dendrite IDA,IEA
CC GO:0070062 extracellular exosome IDA
CC GO:0005576 extracellular region IEA,TAS
CC GO:0005615 extracellular space IEA,IDA
CC GO:0043025 neuronal cell body IDA
CC GO:0005886 plasma membrane TAS
CC GO:0045202 synapse IEA,IDA
MF GO:0001849 complement component C1q binding IDA
MF GO:0004866 endopeptidase inhibitor activity IEA
MF GO:0004252 serine-type endopeptidase activity TAS

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

Back to Top
Pathway KEGG Accession Graph
Complement and coagulation cascades hsa04610
Pertussis hsa05133
Staphylococcus aureus infection hsa05150
Systemic lupus erythematosus hsa05322