C1QC (complement C1q C chain)

Gene

• Entrez ID: 714
• Gene name: Complement C1q C chain
• Gene symbol: C1QC
• Synonyms (NCBI Gene): C1Q-C, C1QD3, C1QG
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200206736	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs377549148	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs752596663	G>A	Pathogenic	Coding sequence variant, missense variant
rs761681612	CC>-,C	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT842164	hsa-miR-1273d	CLIP-seq
MIRT842165	hsa-miR-1286	CLIP-seq
MIRT842166	hsa-miR-185	CLIP-seq
MIRT842167	hsa-miR-3125	CLIP-seq
MIRT842168	hsa-miR-3126-5p	CLIP-seq
MIRT842169	hsa-miR-3916	CLIP-seq
MIRT842170	hsa-miR-3925-5p	CLIP-seq
MIRT842171	hsa-miR-4257	CLIP-seq
MIRT842172	hsa-miR-4306	CLIP-seq
MIRT842173	hsa-miR-4419a	CLIP-seq
MIRT842174	hsa-miR-4428	CLIP-seq
MIRT842175	hsa-miR-4476	CLIP-seq
MIRT842176	hsa-miR-4510	CLIP-seq
MIRT842177	hsa-miR-4533	CLIP-seq
MIRT842178	hsa-miR-4644	CLIP-seq
MIRT842179	hsa-miR-4722-5p	CLIP-seq
MIRT842180	hsa-miR-589	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IDA	18250442
GO:0001791	Function	IgM binding	IDA	12847249, 19006321
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	28018340, 32296183
GO:0005576	Component	Extracellular region	IDA	18250442
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	9777412, 28104818
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005602	Component	Complement component C1 complex	IDA	2988513, 6249812, 6952210, 23650384, 34155115
GO:0005602	Component	Complement component C1 complex	NAS	28104818
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0006955	Process	Immune response	NAS	9777412
GO:0006958	Process	Complement activation, classical pathway	IDA	3258649, 6249812, 6776418, 12847249, 19006321, 23650384, 24626930, 29449492, 34155115
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	NAS	11527969
GO:0009986	Component	Cell surface	IEA
GO:0019864	Function	IgG binding	IDA	3258649, 6776418, 24626930
GO:0030853	Process	Negative regulation of granulocyte differentiation	IDA	10961870
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045650	Process	Negative regulation of macrophage differentiation	IDA	10961870
GO:0062167	Component	Complement component C1q complex	IDA	24626930, 29449492
GO:0062167	Component	Complement component C1q complex	IPI	29449492
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098794	Component	Postsynapse	IEA
GO:0098794	Component	Postsynapse	ISS
GO:0098883	Process	Synapse pruning	IEA
GO:0098883	Process	Synapse pruning	ISS
GO:0098888	Component	Extrinsic component of presynaptic membrane	IEA
GO:0098890	Component	Extrinsic component of postsynaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0106139	Component	Symbiont cell surface	IDA	34155115

Other IDs

• MIM: 120575
• HGNC: 1245
• e!Ensembl: ENSG00000159189

Protein

• UniProt ID: P02747
• Protein name: Complement C1q subcomponent subunit C
• Protein function: Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the ada
• PDB: 1PK6, 2JG8, 2JG9, 2WNU, 2WNV, 5HKJ, 5HZF, 6FCZ, 6Z6V, 9C9L, 9C9U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	61 → 117	Collagen triple helix repeat (20 copies)	Repeat
  PF00386	C1q	121 → 242	C1q domain	Domain

• Sequence:

  MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEP
  GIPAIPGIRGPKGQKGEPGLPGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQS
  VFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTCKVPGLYYFVYHASHTANLCV
  LLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYYDMVGIQGSDSVFSGF
  LLFPD

• Sequence length: 245

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
C1Q deficiency	Pathogenic	rs377549148, rs200206736	RCV000018599 RCV000018600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
C1Q DEFICIENCY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1Q deficiency 3	Uncertain significance	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
C1QC-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	26950848, 36471423	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies Familial	Amyloid neuropathy	Pubtator	31019999	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30283032		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	40033250	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36644582	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35607269, 36644582	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39616737	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36507906	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
C1q DEFICIENCY	C1q Deficiency	UNIPROT_DG	8630118		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C1q DEFICIENCY	C1q Deficiency	GENOMICS_ENGLAND_DG	8630118		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C1q DEFICIENCY	C1q Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C1q DEFICIENCY	C1q Deficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36471393	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27319973	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33428598	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35765947	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	8630118		★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	26669670		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36736734, 39526504	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	39526504	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37187751	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37033921	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20438785	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	19440201		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29795138, 30707351, 31357913	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	19440201		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18505047, 19440201, 20528885, 30707351		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	19440201		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35765947	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	31357913	Associate	★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	22170086		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35300397	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37775746	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36507906	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39526504	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38527595, 39702497	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	25817358		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	27267200		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35634436	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34295336	Associate	★☆☆☆☆ Found in Text Mining only