Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
731
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C8 alpha chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C8A
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.2
Summary Summary of gene provided in NCBI Entrez Gene.
C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017718 hsa-miR-335-5p Microarray 18185580
MIRT025047 hsa-miR-181a-5p Microarray 17612493
MIRT722641 hsa-miR-483-3p HITS-CLIP 19536157
MIRT722640 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT722639 hsa-miR-6756-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001848 Function Complement binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
GO:0005579 Component Membrane attack complex IDA 12413696, 22832194
GO:0005615 Component Extracellular space TAS 6771072
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120950 1352 ENSG00000157131
Protein
UniProt ID P07357
Protein name Complement component C8 alpha chain (Complement component 8 subunit alpha)
Protein function Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis (PubMed:17872444, PubM
PDB 2QOS , 2QQH , 2RD7 , 3OJY , 6H03 , 6H04 , 7NYC , 7NYD , 8B0F , 8B0G , 8B0H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 94 130 Low-density lipoprotein receptor domain class A Repeat
PF01823 MACPF 267 490 MAC/Perforin domain Domain
PF00090 TSP_1 540 584 Thrombospondin type 1 domain Domain
Sequence
MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRH
RSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQD
CLDGSDEDDC
EDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETV
YNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKV
KKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAH
FKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKA
KMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTERARKAMAVEDII
SRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEMQPIHEVLRHTSLGPLEAKR
QNLRRALDQY
LMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADG
SWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC
Sequence length 584
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Complement and coagulation cascades
Regulation of actin cytoskeleton
Prion disease
Amoebiasis
Coronavirus disease - COVID-19
Systemic lupus erythematosus
  Terminal pathway of complement
Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Complement component deficiency Complement deficiency disease, COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)
9759902
Immunodeficiency Immunodeficiency due to a late component of complement deficiency rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866
View all (256 more)
Unknown
Disease term Disease name Evidence References Source
Complement Component Deficiency type I complement component 8 deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 37031449
Carcinoma Hepatocellular Associate 32443377
Cholangiocarcinoma Associate 39831920
Glomerulonephritis IGA Associate 37065697
Lupus Erythematosus Systemic Associate 36420131
Pain Associate 34608709
Prostatic Neoplasms Stimulate 29695737