C1QB (complement C1q B chain)

Gene

• Entrez ID: 713
• Gene name: Complement C1q B chain
• Gene symbol: C1QB
• Synonyms (NCBI Gene): C1QD2
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes the B-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
rs34813378	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064797108	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1361922961	G>C,T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030305	hsa-miR-26b-5p	Microarray	19088304

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	7240, 12960167, 21054788, 28018340, 28325905, 32296183
GO:0005576	Component	Extracellular region	IDA	18250442
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	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:0005602	Component	Complement component C1 complex	TAS	1706597
GO:0006956	Process	Complement activation	TAS	1706597
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:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	ISS
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	ISS
GO:0098883	Process	Synapse pruning	ISS
GO:0106139	Component	Symbiont cell surface	IDA	34155115

Other IDs

• MIM: 120570
• HGNC: 1242
• e!Ensembl: ENSG00000173369

Protein

• UniProt ID: P02746
• Protein name: Complement C1q subcomponent subunit B
• 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	30 → 86	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	60 → 120	Collagen triple helix repeat (20 copies)	Repeat
  PF00386	C1q	123 → 247	C1q domain	Domain

• Sequence:

  MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKG
  EKGLPGLAGDHGEFGEKGDPGIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQ
  KIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTCKVPGLYYFTYHASSRGNL
  CVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANS
  IFSGFLLFPDMEA

• Sequence length: 253

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	rs34813378	RCV000508980	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C1Q deficiency 2	Likely pathogenic; Pathogenic	rs751172449, rs1361922961	RCV003221349 RCV003221354	★★★★☆ 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
C1QB-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30283032		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	10471215		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	2894352		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32821283, 34122426, 39188714	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
Breast Neoplasms	Breast neoplasm	Pubtator	34055036	Associate	★☆☆☆☆ Found in Text Mining only
C1q DEFICIENCY	C1q Deficiency	GENOMICS_ENGLAND_DG	12133956		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C1q DEFICIENCY	C1q Deficiency	BEFREE	25454803		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C1q DEFICIENCY	C1q Deficiency	UNIPROT_DG	9476130		★★★★☆ 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
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35126952	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32174066	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	34912031	Stimulate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	12133956		★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ 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	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34124269, 34932275	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26742644	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37187751	Stimulate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19773754	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35450027	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	25133636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	2894352		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32174066	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20438785	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24013639, 40316395	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GENOMICS_ENGLAND_DG	12133956		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20528885, 24013639		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36532018	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33658651	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	37653176	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21698244		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21698244, 34915882	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36443341	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33766068	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	25338682	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis Inclusion Body	Myositis	Pubtator	32259312	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36507906	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36466903	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32541515	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38527595	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	34122426	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	27267200		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21951915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21951915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	39616737	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	21478439	Stimulate	★☆☆☆☆ Found in Text Mining only