C9: Polycystic Ovarian Syndrome Database

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C9

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

Aliases

ARMD15, C9D

Entrez Gene ID

735

Gene Name

Complement C9

Chromosomal Location

5p13.1

HGNC ID

HGNC:1358

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. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

RefSeq DNA

NG_009894.1

RefSeq mRNA

NM_001737.5, NM_001737.3

e!Ensembl

Gene	ENSG00000113600
Transcript	ENST00000263408
Protein	ENSP00000263408

Gene Ontology (GO)

Show/Hide all(7 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001906	Biological process	Cell killing	IDA	26841934, 30111885
GO:0051260	Biological process	Protein homooligomerization	IDA	26841934, 30111885
GO:0005579	Cellular component	Membrane attack complex	IDA	22832194, 26841934
GO:0005615	Cellular component	Extracellular space	IDA	22832194, 26841934
GO:0005886	Cellular component	Plasma membrane	IDA	26841934
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Cellular component	Blood microparticle	HDA	22516433

Protein Information

Protein Name

Complement component C9, complement component 9

Function

Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934, PubMed:30111885).

Refseq Proteins

NP_001728.1

UniProt

P02748

PDB

6H03, 6H04, 5FMW, 6DLW

Pfam

Pfam Accession	Pfam ID
PF00057	Ldl_recept_a
PF01823	MACPF
PF00090	TSP_1

Pathways
	KEGG	Reactome
	Complement and coagulation cascades Prion diseases Amoebiasis Systemic lupus erythematosus	Terminal pathway of complement Regulation of Complement cascade

Interactions

STRING	MINT	IntAct
ENSP00000402373	P62736	P62736

View interactions

Associated Diseases

Show/Hide all(6 )

Disease group	Disease Name	References
Endocrine System Diseases
Endocrine System Diseases	PCOS	24106282
Eye Diseases
	Macular Degeneration	26691988, 24036952
	Geographic Atrophy	26691988
Immune System Diseases
	C9 Deficiency	2241452, 12596049, 9182899, 11359403, 9144525, 9634479, 9570574, 9703418, 28617419
	Immunologic Deficiency Syndromes	11359403, 9570574
	Antibody Deficiency Syndrome	9570574, 11359403
Neoplasms
	Lung Cancer	23056237
	Liver Cancer	19363144
Nervous System Diseases
Nervous System Diseases	Meningococcal meningitis	9570574
Skin and Connective Tissue Diseases
	Dermatomyositis	11359403
	Nodular Elastoidosis	11359403
	Favre-Racouchot Syndrome	11359403
	Dermatitis	11359403

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
24106282	LHCGR, THADA, DENND1A, FSHR, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1		rs4385527, c9orf3	Rotterdam criteria	Direct	703 Dutch PCOS patients and 2164 Dutch controls	This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations

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