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

Gene
Gene SNPs Transcription factors Other IDs 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
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 SNPs Transcription factors Other IDs 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 SNPs Transcription factors Other IDs 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 SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(36)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
120820 1324 ENSG00000224389
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Complement Component Deficiency complement component 4b deficiency N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Systemic lupus erythematosus systemic lupus erythematosus, Systemic lupus erythematosus N/A N/A GenCC, GWAS
Show/Hide Text Mining Associations (74)
Associations from Text Mining Disease 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