Gene Gene information from NCBI Gene database.
Entrez ID 733
Gene name Complement C8 gamma chain
Gene symbol C8G
Synonyms (NCBI Gene)
C8C
Chromosome 9
Chromosome location 9q34.3
Summary The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chai
miRNA miRNA information provided by mirtarbase database.
8
miRTarBase ID miRNA Experiments Reference
MIRT017056 hsa-miR-335-5p Microarray 18185580
MIRT852923 hsa-miR-326 CLIP-seq
MIRT852924 hsa-miR-330-5p CLIP-seq
MIRT852925 hsa-miR-3909 CLIP-seq
MIRT852926 hsa-miR-4667-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005579 Component Membrane attack complex IDA 26841837, 27052168, 30552328, 30643019, 31061395, 36797260
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120930 1354 ENSG00000176919
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07360
Protein name Complement component C8 gamma chain
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:26841837, PubM
PDB 1IW2 , 1LF7 , 2OVA , 2OVD , 2OVE , 2QOS , 2RD7 , 3OJY , 6H03 , 6H04 , 7NYC , 7NYD , 8B0F , 8B0G , 8B0H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00061 Lipocalin 48 186 Lipocalin / cytosolic fatty-acid binding protein family Domain
Sequence
Sequence length 202
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
C8G-related disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrophy Atrophy Pubtator 37020564 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39199284 Associate
★☆☆☆☆
Found in Text Mining only
Complement deficiency disease Complement Component Deficiency GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis Glomerulonephritis Pubtator 37020564 Stimulate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Iga nephropathy Pubtator 37020564 Associate
★☆☆☆☆
Found in Text Mining only
Immunodeficiency due to a late component of complement deficiency Immunodeficiency Orphanet
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 36420131 Associate
★☆☆☆☆
Found in Text Mining only