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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C2 Gene

protein-coding GIFtS: 67
GCID: GC06P031865

complement component 2

Explore 31 diseases affiliated with
C2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Complement Component 2¹ ²		Complement C2²
C3/C5 Convertase² ³		Complement Component C2²
EC 3.4.21.43³ ⁸		EC 3.4.21⁸
CO2²

External Ids:	HGNC: 1248¹	Entrez Gene: 717²	Ensembl: ENSG00000166278⁷	OMIM: 613927⁵	UniProtKB: P06681³

Export aliases for C2 gene to outside databases

Previous GC identifers: GC06P031957 GC06P031636 GC06P031999 GC06P032003 GC06P031682

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for C2:

Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system.

Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create

the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in

this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes

within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple

transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but

their full-length sequence has not been determined.(provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681

Function: Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor

C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor 4b to generate the C3

or C5 convertase

Gene Wiki entry for C2 (Complement component 2)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1

NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C2 gene promoter:
C/EBPbeta AP-1 MyoD c-Jun IRF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C2 promoter sequence

Search SABiosciences Chromatin IP Primers for C2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2

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

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.3

C2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P031865: view genomic region (about GC identifiers)

Start:	31,865,562 bp from pter	End:	31,913,449 bp from pter
Size:	47,888 bases	Orientation:	plus strand

6 alternative locations:

Chr6+,ALT_REF_LOCI_6 31,855,956-31,939,427	Chr6+,ALT_REF_LOCI_4 31,857,983-31,875,928	Chr6+,ALT_REF_LOCI_3 31,847,747-31,906,678
Chr6+,ALT_REF_LOCI_5 31,886,584-31,904,716	Chr6+,ALT_REF_LOCI_2 31,853,112-31,940,189	Chr6+,ALT_REF_LOCI_7 31,817,491-31,835,624

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681 (See protein sequence)

Recommended Name: Complement C2 precursor

Size: 752 amino acids; 83268 Da

Subunit: C2a interacts with Schistosoma haematobium TOR (via N-terminal extracellular domain). This results in

inhibition of the classical and lectin pathway of complement activation, probably due to interference with binding of

C2a to C4b such that C3 convertase cannot be formed. This infers resistance to complement-mediated cell lysis,

allowing parasite survival and infection

Subcellular location: Secreted

Miscellaneous: C2 is a major histocompatibility complex class-III protein

5 PDB 3D structures from and Proteopedia for C2:

2I6Q (3D)

2I6S (3D)

2ODP (3D)

2ODQ (3D)

3ERB (3D)

Secondary accessions: B4DPF3 B4DV20 E9PFN7 O19694 Q13904

Alternative splicing: 3 isoforms: P06681-1 P06681-2 P06681-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2: NX_P06681

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P06681

4/34 DME Specific Peptides for C2 (P06681) (see all 34)

VLTAAHC

LRGSPVR

GVWSGTE

KALHQVF

C2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000054.2 NP_001139375.1 NP_001171534.1

ENSEMBL proteins:

ENSP00000418923 ENSP00000417482 ENSP00000392322 ENSP00000406121 ENSP00000388727

ENSP00000403325 ENSP00000420305 ENSP00000299367 ENSP00000395683 ENSP00000391354

ENSP00000406190 ENSP00000418332 ENSP00000372664 ENSP00000419048 ENSP00000417790

Reactome Protein details: P06681
Human Recombinant Protein Products:

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	Novus Biologicals C2 Proteins Novus Biologicals C2 Lysates
	Sino Biological Recombinant Protein for C2
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for C2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	TAS	8621452

C2 for ontologies About GeneDecksing

C2 Antibody Products:

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	GenScript Superior Antibodies for C2
	Novus Biologicals C2 Antibodies
	Search for Antibodies for C2 at Abcam
	Uscn Antibodies for C2
	ThermoFisher Antibodies for C2

Assay Products for C2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript C2-Activity-based Protease Assay for Compound Screening
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for C2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

C2 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR001314 Peptidase_S1A

IPR009003 Trypsin-like_Pept_dom

IPR000436 Sushi_SCR_CCP

IPR011360 Compl_C2_B

IPR001254 Peptidase_S1

Graphical View of Domain Structure for InterPro Entry P06681

ProtoNet protein and cluster: P06681

4 Blocks protein families:

IPB000436 Sushi domain/SCR domain/CCP module

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

IPB002035 Von Willebrand factor type A domain signature

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 1 peptidase S1 domain

Similarity: Contains 3 Sushi (CCP/SCR) domains

Similarity: Contains 1 VWFA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681

Function: Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor

C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor 4b to generate the C3

or C5 convertase

Catalytic activity: Selective cleavage of Arg- -Ser bond in complement component C3 alpha-chain to form C3a and C3b,

and Arg- -Xaa bond in complement component C5 alpha-chain to form C5a and C5b

Genatlas biochemistry entry for C2:

complement component 2,110kDa,activated by C1r to form C2a and C2b,combining with C4A and C4B to form C3/C5

convertase,classical pathway of C3 activation

Enzyme Numbers (IUBMB): EC 3.4.21.43¹ ² EC 3.4.21²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): C2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C2
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate C2:
		hsa-miR-3190 hsa-miR-3153 hsa-miR-4257
		SwitchGear 3'UTR luciferase reporter plasmid: C2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C2 (see all 7) OriGene shRNA RFP: C2 OriGene siRNA: C2
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for C2

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		GenScript: all cDNA clones in your preferred vector: C2 (NM_001151)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for C2
		Search LifeMap BioReagents cell lines for C2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IEA	--

C2 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Classical Complement Pathway

	Classical Complement Pathway	1.00			Complement Activation, Classical Pathway	0.65
	Complement Pathway	0.75			Lectin Induced Complement Pathway	0.56

Activation of C3 and C5

	Activation of C3 and C5	1.00			C4b binding protein binds C4bC2a	0.33
	Regulation of Complement cascade	0.38			C4b binding protein displaces C2a	0.33

Immune response_Classical complement pathway

Immune response_Classical complement pathway

1.00

Immune response Classic complement pathway

0.98

Immune System

Immune System

1.00

Innate Immune System

0.46

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for C2

	Immune response Classic complement pathway
	Immune response Lectin Induced complement pathway

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C2

	Classical Complement Pathway
	Lectin Induced Complement Pathway
	Complement Pathway

2 GeneGo (Thomson Reuters) Pathways for C2

	Immune response Classical complement pathway
	Immune response Lectin induced complement pathway

2 BioSystems Pathways for C2

	Complement Activation, Classical Pathway
	Complement and Coagulation Cascades

5/8 Reactome Pathways for C2 (see all 8)

	C4b binding protein binds C4bC2a
	C4b binding protein displaces C2a
	Regulation of Complement cascade
	Activation of C3 and C5
	Complement cascade

4 Kegg Pathways (Kegg details for C2):

	Complement and coagulation cascades
	Pertussis
	Staphylococcus aureus infection
	Systemic lupus erythematosus

C2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for C2

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

5/8 Interacting proteins for C2 (P06681³ ENSP00000299367⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	P01024³, ENSP00000245907⁴	I2D: score=1 STRING: ENSP00000245907
C4B	P0C0L5³, ENSP00000415941⁴	I2D: score=1 STRING: ENSP00000415941
C5	P01031³, ENSP00000223642⁴	I2D: score=1 STRING: ENSP00000223642
PSMA4	P25789³, ENSP00000044462⁴	I2D: score=2 STRING: ENSP00000044462
MASP1	P48740³, ENSP00000296280⁴	I2D: score=2 STRING: ENSP00000296280

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006956	complement activation	TAS	--
GO:0006958	complement activation, classical pathway	IEA	--
GO:0030449	regulation of complement activation	TAS	--
GO:0045087	innate immune response	TAS	--

C2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

C2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C2
1 Novoseek chemical compound relationship for C2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
serine	45.8	9	7963526 (2), 9748277 (2), 1607651 (1), 14748705 (1)

Search CenterWatch for drugs/clinical trials and news about C2 / CO2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C2 gene (3 alternative transcripts):

NM_000063.4 NM_001145903.1 NM_001178063.1

Unigene Cluster for C2:

Complement component 2

Hs.408903 [show with all ESTs]

Unigene Representative Sequence: NM_000063

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

ENST00000469372(uc011doo.2) ENST00000497706(uc003nyc.2) ENST00000452323(uc011dop.2)

ENST00000452202 ENST00000411571 ENST00000413154 ENST00000484636 ENST00000299367(uc003nyf.3 uc010jtk.3 uc011doq.2)

ENST00000442278 ENST00000447952 ENST00000418949(uc003nye.4) ENST00000482060

ENST00000383177 ENST00000494905 ENST00000485690 ENST00000486124(uc003nyh.2)

ENST00000468407

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C2
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate C2:
		hsa-miR-3190 hsa-miR-3153 hsa-miR-4257
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Additional cDNA sequence:

AK096258.1 AK222537.1 AK222783.1 AK298311.1 AK298808.1 AK300892.1 AK307930.1 AK312581.1

BC043484.1 NR_073063.1 X04481.1

17 DOTS entries:

DT.100816012 DT.102841832 DT.75145439 DT.100025976 DT.100816017 DT.100816011 DT.99978913 DT.95080241

DT.121361722 DT.100816015 DT.100816018 DT.121361349 DT.121361449 DT.97781091 DT.121361340 DT.40106272

DT.91905562

24/232 AceView cDNA sequences (see all 232):

BX438898 AA319291 CD607272 BQ646798 BM678058 BQ653772 BF883123 CD607270

NM_000063 CA394109 T29142 BM717640 CA308468 BC043484 X04481 BP337989

BU731438 AW129939 BX479700 CA428014 CD607275 CD607269 AI114853 BF447423

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for C2 (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	·	8d	^	9	^	10a	·	10b	^	11	^	12a	·	12b	^	13	^	14a	·	14b	·
SP1:																	-		-														-				-						-
SP2:																											-		-		-		-				-						-
SP3:																																											-
SP4:											-		-		-		-		-								-		-		-		-		-		-						-
SP5:											-		-		-		-		-														-				-						-

ExUns:	14c	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20
SP1:
SP2:
SP3:													-
SP4:
SP5:

ECgene alternative splicing isoforms for C2

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

C2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Proximal Tubule

Proximal Tubule Cells

Kidney

Adipose

Visceral White Adipose

Adipose

Kidney

Kidney

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2

SOURCE GeneReport for Unigene cluster: Hs.408903

SABiosciences Custom PCR Arrays for C2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C2 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C2 gene from 2/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	C2¹	complement component 2	54.74(n) 44.82(a)		419574 XM_417722.3 XP_417722.3
zebrafish (Danio rerio)	Actinopterygii	NM_131338.1²	--	73.35(n)		30604 NM_131338.1

ENSEMBL Gene Tree for C2 (if available)
TreeFam Gene Tree for C2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for C2 gene

ENSG00000244255² CFB² C4BPB²

6 SIMAP similar genes for C2 using alignment to 25 protein entries: CO2_HUMAN (see all proteins):

DKFZp779M0311 CFB KLK13 BF CSMD1 PRSS45

C2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681

Polymorphism: The variant Asp-318 is associated with a reduced risk of age-related macular degeneration (ARMD)

[MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the

developed world

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28934590^1,2	C	untested	31901653(+)	`CTACTC/TTTATG`	42	S F	int¹ mis¹ ese³		0	--	--	--	--
rs9332739^1,2	C,F,H,	other	31903804(+)	`ACTGAG/CGTGAT`	36	/D /E	nc-transcript-variantint¹ mis¹ ese³		29		NS EA MN NA EU	8565
rs17207762^1,2	F	--	31863568(+)	`TAGGTC/TAACAA`	3	--	int¹ us2k¹		1		MN	94
rs114377175^1,2		--	31863581(+)	`GGTATG/AACCCA`	3	--	us2k¹ int¹		1		NA	120
rs184666367^1,2		--	31863612(+)	`TAAAGC/TTTCTG`	3	--	us2k¹ int¹		0	--	--	--	--
rs189456072^1,2		--	31863712(+)	`AGTGAC/TAGATG`	3	--	us2k¹ int¹		0	--	--	--	--
rs56218312^1,2	C	--	31863734(+)	`GGCTTA/GCTTTG`	3	--	us2k¹ int¹		0	--	--	--	--
rs180762439^1,2		--	31863810(+)	`TTAACC/TATATA`	3	--	us2k¹ int¹		0	--	--	--	--
rs186160160^1,2		--	31863813(+)	`ACTATA/GTAATT`	3	--	us2k¹ int¹		0	--	--	--	--
rs659445^1,2	C,F,A,H,	--	31864304(-)	`CTTGCT/CTGTTT`	3	--	int¹ us2k¹		32		EA MN NS NA WA CSA EU	5639

HapMap Linkage Disequilibrium report for C2 (31865562 - 31913449 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C2
2 CNVs: 3602 4492
Human Gene Mutation Database (HGMD): C2

Locus Specific Mutation Databases (LSDB): C2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C2 for disorders About GeneDecksing

OMIM gene information: 613927 OMIM disorders: --

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681

Defects in C2 are the cause of complement component 2 deficiency (C2D) [MIM:217000]. A deficiency of the

complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus

erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement

component 2 deficiency are also reported to have recurrent or invasive infections

20/31 diseases for C2 (see all 31): About MalaCards

coronary artery aneurysm retinal drusen complement deficiency systemic lupus erythematosus

lupus erythematosus hodgkin's lymphoma coronary heart disease maculopathy

kawasaki disease eye disease polymyositis purpura

retinitis retinal disease pertussis hepatocellular carcinoma

1 disease from the University of Copenhagen DISEASES database for C2:

Age related macular degeneration

Genatlas disease: C2

Henoch-Schonlein purpura susceptibility,lupus systemic discoid syndrome,polymyositis susceptibility (C2

deficiency,type I)

Genetic Association Database (GAD): C2
Human Genome Epidemiology (HuGE) Navigator: C2 (175 documents)

Export disorders for C2 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)
About This Section

PubMed articles for C2 gene, integrated from 9 sources (see all 119):
(articles sorted by number of sources associating them with C2)

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

A novel type II complement C2 deficiency allele in an African- American family. (PubMed id 9670930)^{1, 2, 9} Zhu Z.B.... Volanakis J.E. (1998)
Structure of the human C2 gene. (PubMed id 8326124)^{1, 2, 9} Ishii Y.... Volanakis J.E. (1993)
The structure of C2b, a fragment of complement compon ent C2 produced during C3 convertase formation. (PubMed id 19237749)^{1, 2} Krishnan V....Narayana S.V. (2009)
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. (PubMed id 16518403)^{1, 2} Gold B.... Allikmets R. (2006)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A Schistosoma protein, Sh-TOR, is a novel inhibitor of complement which binds human C2. (PubMed id 10734221)^{1, 2} Inal J.M. and Sim R.B. (2000)
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. (PubMed id 8621452)^{1, 2} Wetsel R.A.... Colten H.R. (1996)
cDNA cloning and expression of human complement component C2. (PubMed id 2493504)^{1, 2} Horiuchi T.... Volanakis J.E. (1989)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 717	HGNC: 1248	AceView: C2	Ensembl:ENSG00000166278	euGenes: HUgn717
ECgene: C2	Kegg: 717	H-InvDB: C2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for C2	Pharmacogenomics, SNPs, Pathways
C2base	http://bioinf.uta.fi/C2base/
SeattleSNPs	http://pga.gs.washington.edu/data/c2/

Intellectual Property for C2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C2 gene:
Search GeneIP for patents involving C2

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

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