C8B (complement C8 beta chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
732
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C8 beta chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C8B
Synonyms (NCBI Gene) Gene synonyms aliases
C82
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.
This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, w
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs41286844 G>A,C,T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs140813121 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained, non coding transcript variant
rs146187042 G>A Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs150022116 G>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs372968576 G>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT2435975 hsa-miR-3668 CLIP-seq
MIRT2435976 hsa-miR-4718 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region TAS
GO:0005579 Component Membrane attack complex IDA 22832194
GO:0006955 Process Immune response TAS 8098723
GO:0006956 Process Complement activation TAS 8098723
GO:0006957 Process Complement activation, alternative pathway IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120960 1353 ENSG00000021852
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P07358
Protein name Complement component C8 beta chain (Complement component 8 subunit beta)
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:22832194, PubM
PDB 3OJY , 6H03 , 6H04 , 7NYC , 7NYD , 8B0F , 8B0G , 8B0H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00090 TSP_1 68 → 116 Thrombospondin type 1 domain Domain
PF00057 Ldl_recept_a 116 → 155 Low-density lipoprotein receptor domain class A Repeat
PF01823 MACPF 273 → 496 MAC/Perforin domain Domain
PF00090 TSP_1 546 → 591 Thrombospondin type 1 domain Domain
Sequence 
MKNSRTWAWRAPVELFLLCAALGCLSLPGSRGERPHSFGSNAVNKSFAKSRQMRSVDVTL
MPIDCELSSWSSWTTCDPCQKKRYRYAYLLQPSQFHGEPCNFSDKEVEDCVTNRPCRSQV
RCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKKCQHEMDQYWGIGSLASGIN
LFTNSFEGPVLDHRYYAGGCSPHYILNTRFRKPYNVESYTPQTQGKYEFILKEYESYSDF
ERNVTEKMASKSGFSFGFKIPGIFELGISSQSDRGKHYIRRTKRFSHTKSVFLHARSDLE
VAHYKLKPRSLMLHYEFLQRVKRLPLEYSYGEYRDLFRDFGTHYITEAVLGGIYEYTLVM
NKEAMERGDYTLNNVHACAKNDFKIGGAIEEVYVSLGVSVGKCRGILNEIKDRNKRDTMV
EDLVVLVRGGASEHITTLAYQELPTADLMQEWGDAVQYNPAIIKVKVEPLYELVTATDFA
YSSTVRQNMKQALEEFQKEVSSCHCAPCQGNGVPVLKGSRCDCICPVGSQGLACEVSYRK
NTPIDGKWNCWSNWSSCSGRRKTRQRQCNNPPPQNGGSPCSGPASETLDCS
Sequence length 591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 7980680
Complement component deficiency Complement Component 6 Deficiency, Complement deficiency disease, COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)		 7594510, 19434484, 14767900, 8098723
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)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Complement Component Deficiency type II complement component 8 deficiency GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Atrial Fibrillation Associate 32389013
Autoimmune Diseases Associate 36858027
Carcinoma Hepatocellular Associate 32443377
Cholangiocarcinoma Associate 39831920
Hemolysis Associate 6415112
Immunologic Deficiency Syndromes Associate 31440263
Meningococcal Infections Associate 27183977
Myocardial Infarction Stimulate 32389013
Myocardial Infarction Associate 35156527
Neoplasm Invasiveness Associate 27183977