C4A (complement C4A (Chido/Rodgers blood group))

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
720
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C4A (Chido/Rodgers blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C4A
Synonyms (NCBI Gene) Gene synonyms aliases
C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG
Disease Acronyms (UniProt) Disease acronyms from UniProt database
C4AD
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. Th
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
Show/Hide all(23)
miRTarBase ID miRNA Experiments Reference
MIRT2493108 hsa-miR-1206 CLIP-seq
MIRT2493109 hsa-miR-146b-3p CLIP-seq
MIRT2493110 hsa-miR-1915 CLIP-seq
MIRT2493111 hsa-miR-2115 CLIP-seq
MIRT2493112 hsa-miR-3117-5p CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SP1 Unknown 9574539
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001849 Function Complement component C1q complex binding IDA 2395880
GO:0004866 Function Endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space HDA 16502470
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
120810 1323 ENSG00000244731
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
  KEGG   Reactome
  Complement and coagulation cascades
Alcoholic liver disease
Pertussis
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus 		  Initial triggering of complement
Activation of C3 and C5
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
Show/Hide Causal Diseases (11)
Causal
Disease term Disease name dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Behcet syndrome Behcet Syndrome, Behçet disease rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741 23918728
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Complement component deficiency Complement deficiency disease, Complement Component 4a Deficiency rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)		 22482068
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction ClinVar
Pancreatitis Pancreatitis ClinVar
Show/Hide Text Mining Associations (106)
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 23508668
Adrenal Hyperplasia Congenital Associate 3018042
Affective Disorders Psychotic Associate 38070620
Allergic Fungal Sinusitis Associate 16879240
Alzheimer Disease Associate 33869630, 34480088, 36776048
Amyotrophic Lateral Sclerosis Associate 39278909
Anti N Methyl D Aspartate Receptor Encephalitis Associate 34764957
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 10337034
Apraxias Associate 24015209
Arthritis Associate 2111123