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	735
Gene name	Complement C9
Gene symbol	C9
Synonyms (NCBI Gene)	ARMD15C9D
Chromosome	5
Chromosome location	5p13.1
Summary	This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutat

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34000044	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs34882957	G>A	Risk-factor	Coding sequence variant, missense variant
rs121909592	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121909593	A>C	Pathogenic	Coding sequence variant, missense variant
rs121909594	G>C	Pathogenic	Stop gained, coding sequence variant
rs778518669	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments
MIRT853773	hsa-miR-3923	CLIP-seq
MIRT853774	hsa-miR-4255	CLIP-seq
MIRT853775	hsa-miR-4659a-3p	CLIP-seq
MIRT853776	hsa-miR-4659b-3p	CLIP-seq
MIRT853777	hsa-miR-493	CLIP-seq
MIRT1953564	hsa-miR-3616-5p	CLIP-seq
MIRT1953565	hsa-miR-3647-3p	CLIP-seq
MIRT1953566	hsa-miR-3647-5p	CLIP-seq
MIRT1953567	hsa-miR-4670-3p	CLIP-seq
MIRT1953568	hsa-miR-573	CLIP-seq
MIRT2385382	hsa-miR-501-3p	CLIP-seq
MIRT2385383	hsa-miR-502-3p	CLIP-seq
MIRT2385384	hsa-miR-628-5p	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001906	Process	Cell killing	IDA	26841934, 30111885
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32814053, 33961781
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, 26841934, 27052168, 30552328, 30643019, 31061395, 34752492, 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	IDA	22832194, 26841934
GO:0005886	Component	Plasma membrane	IDA	26841934
GO:0005886	Component	Plasma membrane	NAS	30552328
GO:0006955	Process	Immune response	IEA
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	26841837, 27052168, 34752492
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0044218	Component	Other organism cell membrane	IDA	27052168, 34752492
GO:0044218	Component	Other organism cell membrane	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0050778	Process	Positive regulation of immune response	NAS	30552328
GO:0051260	Process	Protein homooligomerization	IDA	26841934, 30111885, 34752492
GO:0070062	Component	Extracellular exosome	HDA	19056867, 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
120940	1358	ENSG00000113600

P02748

Protein name

Complement component C9 [Cleaved into: Complement component C9a; Complement component C9b]

Protein function

Pore-forming 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:2

PDB

5FMW , 6DLW , 6H03 , 6H04 , 7NYC , 7NYD , 8B0G , 8B0H , 8DE6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00090	TSP_1	46 → 94	Thrombospondin type 1 domain	Domain
PF00057	Ldl_recept_a	99 → 134	Low-density lipoprotein receptor domain class A	Repeat
PF01823	MACPF	272 → 501	MAC/Perforin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Plasma (at protein level). {ECO:0000269|PubMed:22832194, ECO:0000269|PubMed:26841934, ECO:0000269|PubMed:8603752, ECO:0000269|PubMed:9212048, ECO:0000269|PubMed:9634479}.

Sequence

MSACRSFAVAICILEISILTAQYTTSYDPELTESSGSASHIDCRMSPWSEWSQCDPCLRQ
MFRSRSIEVFGQFNGKRCTDAVGDRRQCVPTEPCEDAEDDCGNDFQCSTGRCIKMRLRCN
GDNDCGDFSDEDDCESEPRPPCRDRVVEESELARTAGYGINILGMDPLSTPFDNEFYNGL
CNRDRDGNTLTYYRRPWNVASLIYETKGEKNFRTEHYEEQIEAFKSIIQEKTSNFNAAIS
LKFTPTETNKAEQCCEETASSISLHGKGSFRFSYSKNETYQLFLSYSSKKEKMFLHVKGE
IHLGRFVMRNRDVVLTTTFVDDIKALPTTYEKGEYFAFLETYGTHYSSSGSLGGLYELIY
VLDKASMKRKGVELKDIKRCLGYHLDVSLAFSEISVGAEFNKDDCVKRGEGRAVNITSEN
LIDDVVSLIRGGTRKYAFELKEKLLRGTVIDVTDFVNWASSINDAPVLISQKLSPIYNLV
PVKMKNAHLKKQNLERAIEDYINEFSVRKCHTCQNGGTVILMDGKCLCACPFKFEGIACE
ISKQKISEGLPALEFPNEK

Sequence length

559

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Age related macular degeneration 15	Likely pathogenic; Pathogenic	rs1753477155, rs774253048, rs1027370764, rs752437276, rs121909592, rs34000044	RCV002499663 RCV005038089 RCV002077349 RCV002484798 RCV005042062 RCV002496403 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
C9-related disorder	Likely pathogenic; Pathogenic	rs752437276, rs777158966, rs34000044	RCV003408011 RCV003404097 RCV004742228	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component 9 deficiency	Likely pathogenic; Pathogenic	rs144138616, rs1753477155, rs774253048, rs146217095, rs1027370764, rs752437276, rs121909592, rs34000044, rs121909594, rs2111835976, rs778518669, rs145434331	RCV001732129 RCV002499663 RCV005038089 RCV001780705 RCV002077349 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs121909592	RCV005887547	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs121909592	RCV005887548	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1 ESTERASE INHIBITOR C1-INH DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C9 DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT DEFICIENCIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYOSITIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 15	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL COMPONENT DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

C9 (complement C9)