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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
720
Gene nameGene Name - the full gene name approved by the HGNC.
Complement C4A (Chido/Rodgers blood group)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
C4A
SynonymsGene synonyms aliases
C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
SP1 Unknown 9574539
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001849 Function Complement component C1q complex 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Behcet syndrome Behcet Syndrome, Behçet disease rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741 23918728
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Complement component deficiency Complement deficiency disease, Complement Component 4a Deficiency rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 22482068
Unknown
Disease name Disease term dbSNP ID References
Acne Acne
Anorexia Anorexia
Antibody deficiency syndrome Antibody Deficiency Syndrome 8473511
Aortic valve insufficiency Aortic Valve Insufficiency

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