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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	731
Gene name	Complement C8 alpha chain
Gene symbol	C8A
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1p32.2
Summary	C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes t

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017718	hsa-miR-335-5p	Microarray	18185580
MIRT025047	hsa-miR-181a-5p	Microarray	17612493
MIRT722641	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT722640	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT722639	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT722638	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT722637	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT722636	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT722635	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT722634	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT722633	hsa-miR-6871-3p	HITS-CLIP	19536157
MIRT722632	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT722631	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT722630	hsa-miR-4530	HITS-CLIP	19536157
MIRT722629	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT722628	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT722627	hsa-miR-4539	HITS-CLIP	19536157
MIRT722626	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT446171	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT446170	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT446169	hsa-miR-875-3p	PAR-CLIP	22100165
MIRT446168	hsa-miR-6128	PAR-CLIP	22100165
MIRT446166	hsa-miR-4635	PAR-CLIP	22100165
MIRT446167	hsa-miR-4522	PAR-CLIP	22100165
MIRT446165	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT446164	hsa-miR-206	PAR-CLIP	22100165
MIRT446163	hsa-miR-613	PAR-CLIP	22100165
MIRT446162	hsa-miR-1299	PAR-CLIP	22100165
MIRT446161	hsa-miR-127-5p	PAR-CLIP	22100165
MIRT722641	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT722640	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT722639	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT722638	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT722637	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT722636	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT722635	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT722634	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT722633	hsa-miR-6871-3p	HITS-CLIP	19536157
MIRT722632	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT722631	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT722630	hsa-miR-4530	HITS-CLIP	19536157
MIRT722629	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT722628	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT722627	hsa-miR-4539	HITS-CLIP	19536157
MIRT722626	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT446171	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT446170	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT446169	hsa-miR-875-3p	PAR-CLIP	22100165
MIRT446168	hsa-miR-6128	PAR-CLIP	22100165
MIRT446166	hsa-miR-4635	PAR-CLIP	22100165
MIRT446167	hsa-miR-4522	PAR-CLIP	22100165
MIRT446165	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT446164	hsa-miR-206	PAR-CLIP	22100165
MIRT446163	hsa-miR-613	PAR-CLIP	22100165
MIRT446162	hsa-miR-1299	PAR-CLIP	22100165
MIRT446161	hsa-miR-127-5p	PAR-CLIP	22100165
MIRT852918	hsa-miR-3123	CLIP-seq
MIRT852919	hsa-miR-3162-3p	CLIP-seq
MIRT852920	hsa-miR-409-3p	CLIP-seq
MIRT852921	hsa-miR-4511	CLIP-seq
MIRT852922	hsa-miR-4793-5p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001848	Function	Complement binding	IEA
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	IBA
GO:0005579	Component	Membrane attack complex	IDA	12413696, 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:0005615	Component	Extracellular space	TAS	6771072
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	NAS	30552328
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	6771072
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	12413696
GO:0006956	Process	Complement activation	IDA	26841837, 27052168
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	2820471
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:0072562	Component	Blood microparticle	HDA	22516433
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:1902495	Component	Transmembrane transporter complex	IDA	30552328

MIM	HGNC	e!Ensembl
120950	1352	ENSG00000157131

P07357

Protein name

Complement component C8 alpha chain (Complement component 8 subunit alpha)

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:17872444, PubM

PDB

2QOS , 2QQH , 2RD7 , 3OJY , 6H03 , 6H04 , 7NYC , 7NYD , 8B0F , 8B0G , 8B0H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00057	Ldl_recept_a	94 → 130	Low-density lipoprotein receptor domain class A	Repeat
PF01823	MACPF	267 → 490	MAC/Perforin domain	Domain
PF00090	TSP_1	540 → 584	Thrombospondin type 1 domain	Domain

Sequence

MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRH
RSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQD
CLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETV
YNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKV
KKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAH
FKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKA
KMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTERARKAMAVEDII
SRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEMQPIHEVLRHTSLGPLEAKR
QNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADG
SWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC

Sequence length

584

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

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hepatocellular carcinoma	Likely pathogenic	rs775967055	RCV005888645	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type I complement component 8 deficiency	Pathogenic; Likely pathogenic	rs140856114, rs748306602, rs1381017299, rs1286367946, rs775967055	RCV002292381 RCV003992496 RCV005370014 RCV004565950 RCV000022508	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1 ESTERASE INHIBITOR C1-INH DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C8A-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT DEFICIENCIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL COMPONENT DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	9759902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37031449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32443377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39831920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I	Complement Component Deficiency	GENOMICS_ENGLAND_DG	9759902		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I	Complement Component Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	9759902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37065697	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	9759902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36420131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29695737	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

C8A (complement C8 alpha chain)