C4B (complement C4B (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.
721
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C4B (Chido/Rodgers blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C4B
Synonyms (NCBI Gene) Gene synonyms aliases
C4B1, C4B12, C4B2, C4B3, C4B5, C4BD, C4B_2, C4F, CH, CO4, CPAMD3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
C4BD, CH
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 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.
Gene miRNA Transcription factors Gene ontology Other IDs Pathways Associated diseases
Show/Hide all(23)
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
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
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0001848 Function Complement 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
120820 1324 ENSG00000224389
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 (5)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 15694999, 20452682
Autoimmune diseases Autoimmune Diseases rs869025224 20452682
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)		 1569346
Immunodeficiency Immunodeficiency due to a classical component pathway complement deficiency rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866
View all (256 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Complement Component Deficiency complement component 4b deficiency GenCC
Psoriasis Psoriasis GWAS
Show/Hide Text Mining Associations (74)
Associations from Text Mining
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