C9 (complement C9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
735
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C9
Synonyms (NCBI Gene) Gene synonyms aliases
ARMD15, C9D
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120940 1358 ENSG00000113600
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Complement Component Deficiency Complement component 9 deficiency rs121909592, rs34000044, rs121909594, rs778518669 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Macular Degeneration Macular degeneration N/A N/A GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 26626881
Adenocarcinoma Associate 30097534
Alzheimer Disease Associate 26626881, 36471423
Barrett Esophagus Associate 30097534
Bipolar Disorder Associate 36351892
Brain Injuries Traumatic Associate 33712077
Capillary Leak Syndrome Associate 37771589
COVID 19 Associate 39497098
Glioblastoma Associate 29513714
Glomerulonephritis Associate 33633132