Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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
rs398122867	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs398122868	->CACAGCC	Pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all (2)

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

Show/Hide all (29)

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

MIM	HGNC	e!Ensembl
120960	1353	ENSG00000021852

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

	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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
C8B-related disorder	Likely pathogenic; Pathogenic	rs1176902020, rs41286844, rs146187042	RCV003401961 RCV003398541 RCV003421934
Cholangiocarcinoma	Likely pathogenic	rs766080403	RCV005934741
Complement component 6 deficiency	Pathogenic; Likely pathogenic	rs41286844, rs146187042	RCV000844619 RCV000844620
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

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Nonpapillary renal cell carcinoma	Uncertain significance	rs567145070	RCV005930405

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Trigeminal Neuralgia	Associate	39361088

C8B (complement C8 beta chain)