C4B (complement C4B (Chido/Rodgers blood group))

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
Entrez ID 721
Gene name Complement C4B (Chido/Rodgers blood group)
Gene symbol C4B
Synonyms (NCBI Gene)
C4B1C4B12C4B2C4B3C4B5C4BDC4B_2C4FCHCO4CPAMD3
Chromosome 6
Chromosome location 6p21.33
Summary This gene encodes the basic form of complement factor 4, and together with the C4A gene, is 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 g
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT2493124 hsa-miR-1206 CLIP-seq
MIRT2493125 hsa-miR-146b-3p CLIP-seq
MIRT2493126 hsa-miR-1915 CLIP-seq
MIRT2493127 hsa-miR-2115 CLIP-seq
MIRT2493128 hsa-miR-3117-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
SP1 Unknown 9574539
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001848 Function Complement binding IDA 2395880
GO:0001848 Function Complement binding IEA
GO:0002376 Process Immune system process IEA
GO:0003823 Function Antigen binding IDA 8538770
GO:0004866 Function Endopeptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
120820 1324 ENSG00000224389
Interactions View interactions
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Complement component 4b deficiency Likely pathogenic rs771378213 RCV001725878
Show/Hide Text Mining Associations (74)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Hyperplasia Congenital Associate 10207042, 2565078, 3018042
Alzheimer Disease Associate 21403675, 33869630, 34480088
Anti N Methyl D Aspartate Receptor Encephalitis Associate 34764957
Arthritis Associate 37379808
Arthritis Juvenile Associate 37379808
Arthritis Psoriatic Associate 37379808
Arthritis Rheumatoid Associate 2111123, 22076784, 2270969, 37379808
Arthritis Rheumatoid Stimulate 8984946
Autistic Disorder Associate 18179706, 2004485
Autoimmune Diseases Associate 12224044, 12226794, 16403222, 17503323, 19135723, 19150565, 2107212, 21857912, 3018042, 34764957, 7923882