C8B (complement C8 beta chain)

Gene

• Entrez ID: 732
• Gene name: Complement C8 beta chain
• Gene symbol: C8B
• Synonyms (NCBI Gene): C82
• Chromosome: 1
• Chromosome location: 1p32.2
• Summary: 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 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
rs398122867	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs398122868	->CACAGCC	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2435975	hsa-miR-3668	CLIP-seq
MIRT2435976	hsa-miR-4718	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005579	Component	Membrane attack complex	IBA
GO:0005579	Component	Membrane attack complex	IDA	22832194, 26841837, 27052168, 30552328, 30643019, 31061395, 36797260
GO:0005579	Component	Membrane attack complex	IEA
GO:0005579	Component	Membrane attack complex	IPI	30552328
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	NAS	30552328
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	8098723
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	26841837, 27052168
GO:0006956	Process	Complement activation	TAS	8098723
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2820472
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0044218	Component	Other organism cell membrane	IDA	27052168
GO:0044218	Component	Other organism cell membrane	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0050778	Process	Positive regulation of immune response	NAS	30552328
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:1902495	Component	Transmembrane transporter complex	IDA	30552328
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 120960
• HGNC: 1353
• e!Ensembl: ENSG00000021852

Protein

• 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

Pathways

KEGG:

Complement and coagulation cascades
Regulation of actin cytoskeleton
Prion disease
Amoebiasis
Coronavirus disease - COVID-19
Systemic lupus erythematosus

Reactome:

Terminal pathway of complement
Regulation of Complement cascade

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
C8B-related disorder	Likely pathogenic; Pathogenic	rs1176902020, rs41286844, rs146187042	RCV003401961 RCV003398541 RCV003421934	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma	Likely pathogenic	rs766080403	RCV005934741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component 6 deficiency	Pathogenic; Likely pathogenic	rs41286844, rs146187042	RCV000844619 RCV000844620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type II complement component 8 deficiency	Pathogenic; Likely pathogenic	rs759074976, rs753002884, rs779205550, rs374155702, rs41286844, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868	RCV001334190 RCV001784062 RCV005419567 RCV005356294 RCV000018566 RCV000029237 RCV000029239 RCV000029240 RCV000029241 RCV000029242	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1 ESTERASE INHIBITOR C1-INH DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT DEFICIENCIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL COMPONENT DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	8098723		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36858027	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32443377	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39831920	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement Component 6 Deficiency	Complement Component Deficiency	CLINVAR_DG	14767900, 19434484, 7594510, 8098723		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	Complement Component Deficiency	GENOMICS_ENGLAND_DG	19434484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	Complement Component Deficiency	BEFREE	2284574, 8020197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	Complement Component Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	Complement Component Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	19434484		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	6415112	Associate	★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to a late component of complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	8098723		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	7980680		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	7980680		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	7980680		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35156527	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	7980680		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	7980680		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	39361088	Associate	★☆☆☆☆ Found in Text Mining only