C4A (complement C4A (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.
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
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 SNPs Transcription factors Other IDs 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 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(49)
GO ID Ontology Definition Evidence Reference
GO:0001848 Function Complement binding IEA
GO:0001849 Function Complement component C1q complex binding IDA 2395880
GO:0001867 Process Complement activation, lectin pathway IDA 22691502
GO:0001867 Process Complement activation, lectin pathway IDA 11527969, 18204047, 22691502, 22949645
GO:0001905 Process Activation of membrane attack complex IDA 18204047
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
120810 1323 ENSG00000244731
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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 (2)
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 4a deficiency N/A N/A ClinVar
Systemic lupus erythematosus systemic lupus erythematosus N/A N/A GenCC
Show/Hide Text Mining Associations (106)
Associations from Text Mining Disease associations identified through Pubtator
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