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Set Analyses:

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C1QC Gene

protein-coding GIFtS: 62
GCID: GC01P022970

Complement Component 1, Q Subcomponent, C Chain

(Previous names: complement component 1, q subcomponent, gamma polypeptide)
(Previous symbol: C1QG)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Complement Component 1, Q Subcomponent, C Chain¹ ²
C1QG¹ ² ³ ⁵
Complement Component 1, Q Subcomponent, Gamma Polypeptide¹ ²
C1Q-C²
Complement C1q Subcomponent Subunit C²

External Ids:	HGNC: 1245¹	Entrez Gene: 714²	Ensembl: ENSG00000159189⁷	OMIM: 120575⁵	UniProtKB: P02747³

Export aliases for C1QC gene to outside databases

Previous GC identifers: GC01P022842 GC01P021214

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C1QC Gene:

This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in

order to yield the first component of the serum complement system. A deficiency in C1q has been associated with

lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains,

and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal

globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the

C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode

the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for C1QC Gene:

C1QC (complement component 1, q subcomponent, C chain) is a protein-coding gene. Diseases associated with C1QC include chronic wasting disease, and c1q deficiency. An important paralog of this gene is C1QTNF6.

UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747

Function: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement

system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and

efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or

IgM antibody present in immune complexes

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000001.11 NC_018912.2 NT_032977.10

Regulatory elements:

Regulatory transcription factor binding sites in the C1QC gene promoter:
AhR AML1a NRSF form 1 NRSF form 2 Arnt HEN1 POU2F1 POU2F1a POU2F1b POU2F1c
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C1QC promoter sequence

Search Chromatin IP Primers for C1QC

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1QC

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.11 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.11

C1QC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QC gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P022970: view genomic region (about GC identifiers)

Start:	22,970,118 bp from pter	End:	22,974,603 bp from pter
Size:	4,486 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747 (See protein sequence)

Recommended Name: Complement C1q subcomponent subunit C precursor

Size: 245 amino acids; 25774 Da

Subunit: C1 is a calcium-dependent trimolecular complex of C1q, R and S in the molar ration of 1:2:2. C1q

subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and

three of which are disulfide-linked dimers of the C chain

5 PDB 3D structures from and Proteopedia for C1QC:

1PK6 (3D)

2JG8 (3D)

2JG9 (3D)

2WNU (3D)

2WNV (3D)

Secondary accessions: Q7Z502 Q96DL2 Q96H05

Explore the universe of human proteins at neXtProt for C1QC: NX_P02747

Explore proteomics data for C1QC at MOPED

Post-translational modifications:

O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl

groups¹

Glycosylation² at Lys75

Modification sites at PhosphoSitePlus

See C1QC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001107573.1 NP_758957.2

ENSEMBL proteins:

ENSP00000363771 ENSP00000363770 ENSP00000363768

Reactome Protein details: P02747

C1QC Human Recombinant Protein Products:

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	Novus Biologicals C1QC Protein Novus Biologicals C1QC Lysates
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	Browse Proteins at Cloud-Clone Corp.

C1QC Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Novus Biologicals C1QC Antibodies
	Abcam antibodies for C1QC (P02745, P02747, P02746)
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C1QC Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for C1QC
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

complement: Complement system

3 InterPro protein domains:

IPR008983 Tumour_necrosis_fac-like_dom

IPR008160 Collagen

IPR001073 C1q

Graphical View of Domain Structure for InterPro Entry P02747

ProtoNet protein and cluster: P02747

3 Blocks protein domains:

IPB001073 Complement C1q protein

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747

Similarity: Contains 1 C1q domain

Similarity: Contains 1 collagen-like domain

C1QC for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: C1QC_HUMAN, P02747

Function: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement

system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and

efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or

IgM antibody present in immune complexes

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

C1QC for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1QC

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C1QC

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		SwitchGear 3'UTR luciferase reporter plasmid: C1QC 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for C1QC
		Predesigned siRNA for gene silencing in human, mouse, rat C1QC

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for C1QC

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		Sino Biological Human cDNA Clone for C1QC
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1QC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1QC

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for C1QC
		Browse ESI BIO Cell Lines and PureStem Progenitors for C1QC

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QC

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

C1QC_HUMAN, P02747: Secreted

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
endoplasmic reticulum	1
nucleus	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005581	collagen	IEA	--
GO:0005615	extracellular space	IDA	--
GO:0072562	blood microparticle	IDA	--

C1QC for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for C1QC About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Complement and coagulation cascades

	Complement and coagulation cascades	0.71			Complement Activation, Classical Pathway	0.00
	Complement and Coagulation Cascades	0.71

Creation of C4 and C2 activators

	Creation of C4 and C2 activators	0.85			Classical antibody-mediated complement activation	0.82
	Initial triggering of complement	0.85			Complement cascade	0.68

Complement Pathway

Immune response Classic complement pathway

0.56

RNA Polymerase I Promoter Opening

Systemic lupus erythematosus

0.40

Toll-like receptor signaling pathway

Chagas disease (American trypanosomiasis)

0.32

Pathways by source See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for C1QC

	Classical Complement Pathway
	Complement Pathway

1 GeneGo (Thomson Reuters) Pathway for C1QC

Immune response Classical complement pathway

2 BioSystems Pathways for C1QC

	Complement Activation, Classical Pathway
	Complement and Coagulation Cascades

2 Reactome Pathways for C1QC

	Classical antibody-mediated complement activation
	Initial triggering of complement

Selected Kegg Pathways (Kegg details for C1QC) (see all 6):

	Complement and coagulation cascades
	Prion diseases
	Pertussis
	Chagas disease (American trypanosomiasis)
	Staphylococcus aureus infection

C1QC for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for C1QC
Interactions:

Search GeneGlobe Interaction Network for C1QC

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for C1QC (P02747^{2, 3} ENSP00000363768⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C1QB	P02746²^,³, ENSP00000313967⁴	MINT-8040663 I2D: score=1 STRING: ENSP00000313967
C1QA	P02745²^,³, ENSP00000363773⁴	MINT-8040663 I2D: score=1 STRING: ENSP00000363773
FKBP2	P26885³, ENSP00000310935⁴	I2D: score=1 STRING: ENSP00000310935
PTX3	P26022³, ENSP00000295927⁴	I2D: score=2 STRING: ENSP00000295927
APOA1	P02647³, ENSP00000236850⁴	I2D: score=1 STRING: ENSP00000236850

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Gene Ontology (GO): Selected biological process terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006955	immune response	NAS	9777412
GO:0006956	complement activation	TAS	--
GO:0006958	complement activation, classical pathway	TAS	--
GO:0030853	negative regulation of granulocyte differentiation	IDA	10961870
GO:0045087	innate immune response	TAS	--

C1QC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for C1QC

1 HMDB Compound for C1QC About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Selected DrugBank Compounds for C1QC (see all 18) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Abciximab	7E3 (see all 4)	143653-53-6	target	--	17016423 17139284
Adalimumab	--	331731-18-1	target	--	17016423 17139284
Alefacept	--	222535-22-0	target	--	17139284 17016423
Alemtuzumab	--	216503-57-0	target	--	17016423 17139284
Basiliximab	chimeric mouse-human antiCD25 (see all 2)	152923-56-3	target	--	17016423 17139284
Bevacizumab	antiVEGF (see all 3)	216974-75-3	target	--	17139284 17016423
Cetuximab	Anti EGFR (see all 2)	205923-56-4	target	--	17139284 17016423
Daclizumab	Anti-IL-2 (see all 3)	152923-56-3	target	--	17139284 17016423
Efalizumab	anti alphaL integrin (see all 4)	214745-43-4	target	--	17139284 17016423
Etanercept	CD120b (see all 7)	185243-69-0	target	--	17139284 17016423

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C1QC gene (2 alternative transcripts):

NM_001114101.1 NM_172369.3

Unigene Cluster for C1QC:

Complement component 1, q subcomponent, C chain

Hs.467753 [show with all ESTs]

Unigene Representative Sequence: BQ711804

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374640(uc001bgc.4) ENST00000374639(uc001bga.4) ENST00000374637

miRNA Products:		Block miRNA regulation of human, mouse, rat C1QC using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate C1QC:
		hsa-miR-4254 hsa-miR-765 hsa-miR-3175
		SwitchGear 3'UTR luciferase reporter plasmid: C1QC 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): C1QC (NM_001114101)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1QC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1QC

Primer Products:		OriGene qPCR primer pairs and template standards for C1QC OriGene qSTAR qPCR primer pairs in human, mouse for C1QC
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat C1QC
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		QuantiFast Probe-based Assays in human, mouse, rat C1QC

Additional mRNA sequence:

AF087892.1 AK057792.1 AK130613.1 BC009016.1

15 DOTS entries:

DT.95272435 DT.100833269 DT.92431893 DT.100839328 DT.100038193 DT.101982245 DT.121388766 DT.100038191

DT.100828744 DT.100828749 DT.95272436 DT.100828743 DT.121388793 DT.100828747 DT.100697109

Selected AceView cDNA sequences (see all 507):

AI335628 BM713106 BQ712171 AI741805 R17629 BX337443 BX111339 BI769845

BI523824 AI749854 CR597625 BI835225 BU730331 BI835236 CD368327 AK130613

CR613096 AI792359 CR617126 CD108412 CR591547 BI521328 CR610701 BI824570

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C1QC About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3	^	4a	·	4b
SP1:							-		-
SP2:							-		-		-		-
SP3:
SP4:									-
SP5:

ECgene alternative splicing isoforms for C1QC

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C1QC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AAATCAATAC

About this image

C1QC expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 16) fully expand


Skeletal Muscle (Muscoskeletal System) fully expand to see all 2 entries
Myoblasts Mandibular Arch Muscles

Epithelial Cells
Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

Eye (Sensory Organs)
Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

Blood (Cardiovascular System)
Hematopoietic Stem Cells Aorta-Gonad-Mesonephros

Lateral Plate Mesoderm (Gastrulation Derivatives)
Hematopoietic Stem Cells Aorta-Gonad-Mesonephros

C1QC Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

C1QC Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.467753

Custom PCR Arrays for C1QC

Primer Products:		OriGene qPCR primer pairs and template standards for C1QC OriGene qSTAR qPCR primer pairs in human, mouse for C1QC
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat C1QC
		QuantiTect SYBR Green Assays in human, mouse, rat C1QC
		QuantiFast Probe-based Assays in human, mouse, rat C1QC

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QC

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for C1QC gene from Selected species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	C1qc^{1 , 5}	complement component 1, q subcomponent, C chain^{1, 5}	78.88(n)¹ 74.66(a)¹	4 (69.05 cM)⁵ 12262¹ NM_007574.2¹ NP_031600.2¹ 136889804⁵
chicken (Gallus gallus)	Aves	C1QC¹	complement component 1, q subcomponent, C chain	64.49(n) 61.68(a)	419503 XM_417653.3 XP_417653.1
zebrafish (Danio rerio)	Actinopterygii	c1qc¹	complement component 1, q subcomponent, C chain	54.63(n) 52.2(a)	449803 NM_001005976.1 NP_001005976.1

ENSEMBL Gene Tree for C1QC (if available)
TreeFam Gene Tree for C1QC (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for C1QC gene

C1QTNF6² C1QB² COL10A1² C1QTNF1² C1QTNF9B² C1QA² C1QTNF4² COL8A2²

C1QTNF9² C1QTNF5² COL8A1² OTOL1² C1QTNF8² C1QTNF7² C1QTNF2² ADIPOQ²

11 SIMAP similar genes for C1QC using alignment to 1 protein entry: C1QC_HUMAN:

C1QB COL4A5 ADIPOQ C1QA C1QTNF5 C1QL4

C1QTNF2 C1QTNF9 C1QTNF9B OTOL1 C1QL2

C1QC for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_008542⁴		Complement component C1q deficiency (C1QD)⁴	--	see VAR_008542	2	G R	mis⁴		0	--	--	--	--
rs138972986^1,2	C	--	21214232(+)	`TTTAT-/ACAC ACACA`	2	--	us2k¹		0	--	--	--	--
rs147010526^1,2	C	--	21215156(+)	`GCTTG-/CCTTGC`	2	--	int¹		0	--	--	--	--
rs71660254^1,2	C	--	22969874(+)	`TTTAT-/ACACACA`	2	--	us2k¹		1		CSA	2
rs10601144^1,2	C	--	22974534(+)	`CATTC-/T/TT TTTTT`	4	--	ut3¹		0	--	--	--	--
rs71020441^1,2	C	--	22974534(+)	`CATTC-/T/T T/TTTTTTTT`	6	--	ut3¹		1		NA	2
rs294180^1,2	C,F,O,A,H	--	22974794(-)	`GGACCT/GCTGGC`	2	--	ds500¹		25		MN NA NS EA WA CSA	1528
rs74060549^1,2	C,F	--	22974867(+)	`AAGCCC/TACAGG`	2	--	ds500¹		2		WA	120
rs294179^1,2	C,F,O,A,H	--	22974928(-)	`CCCATG/AGTAAA`	2	--	ds500¹		26		MN NS EA NA WA CSA	2670
rs115691127^1,2	F	--	22974946(+)	`TGGGCT/CTGGGT`	2	--	ds500¹		1		WA	118

HapMap Linkage Disequilibrium report for C1QC (22970118 - 22974603 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for C1QC: About this table

Variant ID	Type	Subtype	PubMed ID
nsv871044	CNV	Loss	21882294
esv34161	CNV	Loss	18971310

Human Gene Mutation Database (HGMD): C1QC
Locus Specific Mutation Databases (LSDB): C1QC

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 120575
OMIM disorders: 613652
UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747

Complement component C1q deficiency (C1QD) [MIM:613652]: A disorder caused by impaired activation of the

complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus

erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in

this entry

Selected diseases for C1QC (see all 26):
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chronic wasting disease c1q deficiency glomerulonephritis complement component 4, partial deficiency of

trypanosomiasis duchenne muscular dystrophy pertussis prion disease

lupus erythematosus chagas disease systemic lupus erythematosus polyneuropathy

childhood leukemia hodgkin's lymphoma non-hodgkin lymphoma muscular dystrophy

meningioma hiv-1 hepatitis b hepatitis

C1QC for disorders About GeneDecksing

Genetic Association Database (GAD): C1QC
Human Genome Epidemiology (HuGE) Navigator: C1QC (14 documents)

Export disorders for C1QC gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for C1QC gene, integrated from 10 sources (see all 66):
(articles sorted by number of sources associating them with C1QC)

Utopia: connect your pdf to the dynamic
world of online information

Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q. (PubMed id 1706597)^{1, 2, 3} Sellar G.C.... Reid K.B.M. (Biochem. J. 1991)
Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)^{1, 4} Rajaraman P....Inskip P.D. (amp 2010)
Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)^{1, 4} Han S....Kang D. (Hum. Immunol. 2010)
Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PubMed id 20528885)^{1, 4} Rafiq S....Eggleton P. (Clin. Exp. Immunol. 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)^{1, 4} Cerhan J.R....Slager S.L. (Br. J. Haematol. 2009)
Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. (PubMed id 19493541)^{1, 4} Dardiotis E....Kyriakides T. (J. Neurol. Sci. 2009)
Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PubMed id 18174230)^{1, 4} Miyagawa H....Horiuchi T. (Rheumatology (Oxford) 2008)
PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus. (PubMed id 18505047)^{1, 4} Chew C.H....Tan S.Y. (Hum. Biol. 2008)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 714	HGNC: 1245	AceView: C1QAandC1QG	Ensembl:ENSG00000159189	euGenes: HUgn714
ECgene: C1QC	Kegg: 714	H-InvDB: C1QC

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for C1QC	Pharmacogenomics, SNPs, Pathways
C1QGbase	http://bioinf.uta.fi/C1QGbase/

Intellectual Property for C1QC gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for C1QC gene:
Search GeneIP for patents involving C1QC

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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C1QC Gene

Complement Component 1, Q Subcomponent, C Chain

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C1QC Gene

Complement Component 1, Q Subcomponent, C Chain

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