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

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 720
Gene name Complement C4A (Chido/Rodgers blood group)
Gene symbol C4A
Synonyms (NCBI Gene)
C4C4A2C4A3C4A4C4A6C4ADC4SCO4CPAMD2RG
Chromosome 6
Chromosome location 6p21.33
Summary 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.
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Gene SNPs Transcription factors Other IDs Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
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Gene SNPs Transcription factors Other IDs Associated diseases
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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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Gene SNPs Transcription factors Other IDs Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
120810 1323 ENSG00000244731
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Transcription factors Other IDs Associated diseases
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Complement component 4a deficiency Uncertain significance; Benign rs1196274661, rs1348499408, rs760602547 RCV001330377
RCV001337079
RCV000018583
Show/Hide Text Mining Associations (106)
Associations from Text MiningDisease 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