C8G

complement C8 gamma chain, the group of Complement system activation components|Lipocalins

Basic information

Region (hg38): 9:136945185-136946975

Links

ENSG00000176919 ∙ NCBI:733 ∙ OMIM:120930 ∙ HGNC:1354 ∙ Uniprot:P07360 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C8G gene.

• not_specified (39 variants)
• C8G-related_disorder (10 variants)
• not_provided (4 variants)
• Immunodeficiency (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8G gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000606.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	1	6
missense			37	3	1	41
nonsense						0
start loss						0
frameshift			2	1		3
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	9	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8G	protein_coding	protein_coding	ENST00000224181	7	1729

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.65e-17	0.000321	125143	1	245	125389	0.000981

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.364	141	129	1.09	0.00000852	1260
Missense in Polyphen		30	35.498	0.84511		392
Synonymous	-2.49	78	54.6	1.43	0.00000360	425
Loss of Function	-1.86	21	13.6	1.54	8.23e-7	122

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00132	0.00129
Ashkenazi Jewish	0.00	0.00
East Asian	0.00921	0.00912
Finnish	0.00	0.00
European (Non-Finnish)	0.000348	0.000309
Middle Eastern	0.00921	0.00912
South Asian	0.000140	0.000131
Other	0.00104	0.000980

dbNSFP

Source: dbNSFP

• Function: FUNCTION: C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.
• Pathway: Prion diseases - Homo sapiens (human);Complement and coagulation cascades - Homo sapiens (human);Systemic lupus erythematosus - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Dengue-2 Interactions with Complement and Coagulation Cascades;Complement Activation;Complement and Coagulation Cascades;alternative complement pathway;classical complement pathway;lectin induced complement pathway;Innate Immune System;Immune System;Regulation of Complement cascade;Terminal pathway of complement;Complement cascade (Consensus)

Intolerance Scores

• loftool: 0.823
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.19

Haploinsufficiency Scores

• pHI: 0.0467
• hipred: N
• hipred_score: 0.146
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.693

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: C8g

Gene ontology

• Biological process: complement activation, alternative pathway;complement activation, classical pathway;cytolysis;regulation of complement activation
• Cellular component: extracellular region;membrane attack complex;extracellular exosome;blood microparticle
• Molecular function: retinol binding