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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C5 Gene

protein-coding GIFtS: 70
GCID: GC09M123714

complement component 5

Explore 58 diseases affiliated with
C5 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 5¹ ²		Anaphylatoxin C5a Analog²
CPAMD4¹ ² ³		C5a Anaphylatoxin²
C5a¹ ²		Complement C5²
C5b¹ ²		Prepro-C5¹
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 4² ³

External Ids:	HGNC: 1331¹	Entrez Gene: 727²	Ensembl: ENSG00000106804⁷	OMIM: 120900⁵	UniProtKB: P01031³

Export aliases for C5 gene to outside databases

Previous GC identifers: GC09M114819 GC09M115361 GC09M117168 GC09M119090 GC09M120794 GC09M122754 GC09M093332

(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 C5:

The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory

and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a

disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and

chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular

cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of

the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement

component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this

gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: CO5_HUMAN, P01031

Function: Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components,

C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation

upon which the lytic complex is assembled

Function: Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory

process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release

from mast cells and basophilic leukocytes. C5a also stimulates the locomotion of polymorphonuclear leukocytes

(chemokinesis) and direct their migration toward sites of inflammation (chemotaxis)

Gene Wiki entry for C5 (Complement component 5)

(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_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C5 gene promoter:
PPAR-gamma1 POU2F1 HNF-1 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) PPAR-gamma2 POU3F2 HNF-1A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C5 promoter sequence

Search SABiosciences Chromatin IP Primers for C5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5

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

Entrez Gene cytogenetic band: 9q33-q34 Ensembl cytogenetic band: 9q33.2 HGNC cytogenetic band: 9q33-q34

C5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M123714: view genomic region (about GC identifiers)

Start:	123,714,613 bp from pter	End:	123,812,554 bp from pter
Size:	97,942 bases	Orientation:	minus strand

(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: CO5_HUMAN, P01031 (See protein sequence)

Recommended Name: Complement C5 precursor

Size: 1676 amino acids; 188305 Da

Subunit: C5 precursor is first processed by the removal of 4 basic residues, forming two chains, beta and alpha, linked

by a disulfide bond. C5 convertase activates C5 by cleaving the alpha chain, releasing C5a anaphylatoxin and

generating C5b (beta chain + alpha' chain). Interacts with tick complement inhibitor

Subcellular location: Secreted

6/12 PDB 3D structures from and Proteopedia for C5 (see all 12):

1CFA (3D)

1KJS (3D)

1XWE (3D)

3CU7 (3D)

3HQA (3D)

3HQB (3D)

Secondary accessions: Q14CJ0 Q27I61

Explore the universe of human proteins at neXtProt for C5: NX_P01031

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01031

C5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001726.2

ENSEMBL proteins:

ENSP00000223642

Reactome Protein details: P01031
Human Recombinant Protein Products:

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	Novus Biologicals C5 Proteins Novus Biologicals C5 Lysate
	Sino Biological Recombinant Protein for C5
	ProSpec Recombinant Protein for C5
	Uscn Proteins for C5

Gene Ontology (GO): 4 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:0005579	membrane attack complex	IEA	--
GO:0005615	extracellular space	IEA	--
GO:0005625	soluble fraction	--	--

C5 for ontologies About GeneDecksing

C5 Antibody Products:

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	R&D Systems Antibodies for C5 (Complement Component C5a, Complement Component C5/C5a)
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	GenScript Superior Antibodies for C5
	Novus Biologicals C5 Antibodies
	Search for Antibodies for C5 at Abcam
	Uscn Antibodies for C5
	ThermoFisher Antibodies for C5

Assay Products for C5:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for C5 (Complement Component C5a) (see all)
	GenScript Custom Assay Services for C5
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for C5

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

C5 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR008993 TIMP-like_OB-fold

IPR001599 Macroglobln_a2

IPR000020 Anaphylatoxin/fibulin

IPR011626 A2M_comp

IPR002890 A2M_N

Graphical View of Domain Structure for InterPro Entry P01031

ProtoNet protein and cluster: P01031

5 Blocks protein families:

IPB001134 Netrin

IPB001599 Alpha-2-macroglobulin

IPB001840 Anaphylatoxin domain signature

IPB002890 Alpha-2-macroglobulin

IPB009048 Alpha-macroglobulin

UniProtKB/Swiss-Prot: CO5_HUMAN, P01031

Similarity: Contains 1 anaphylatoxin-like domain

Similarity: Contains 1 NTR 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: CO5_HUMAN, P01031

Function: Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components,

C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation

upon which the lytic complex is assembled

Function: Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory

process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release

from mast cells and basophilic leukocytes. C5a also stimulates the locomotion of polymorphonuclear leukocytes

(chemokinesis) and direct their migration toward sites of inflammation (chemotaxis)

Genatlas biochemistry entry for C5:

complement component 5,glycoprotein,180kDa,initiating after activation the assembly of the late complement components

C5-C9,into the membrane attack complex

miRNA Products:		OriGene 3'-UTR Clone: C5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C5
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate C5:
		hsa-miR-498 hsa-miR-4307 hsa-miR-205* hsa-miR-4263
		SwitchGear 3'UTR luciferase reporter plasmid: C5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for C5

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		GenScript: all cDNA clones in your preferred vector (see all 3): C5 (NM_001168)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for C5
		Search LifeMap BioReagents cell lines for C5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004866	endopeptidase inhibitor activity	IEA	--
GO:0005102	receptor binding	TAS	9590258
GO:0008009	chemokine activity	TAS	10820279
GO:0031714	C5a anaphylatoxin chemotactic receptor binding	IEA	--

C5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for C5:

Increased gamma-H2AX phosphory

Animal Models:
5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Hc):

homeostasis/metabolism

immune system

normal

respiratory system

skeleton

C5 for phenotypes 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 - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response_Alternative complement pathway

	Immune response_Alternative complement pathway	1.00			Immune response_Lectin induced complement pathway	0.56
	Immune response Alternative complement pathway	1.00			Immune response Lectin Induced complement pathway	0.56

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			Peptide ligand-binding receptors	0.61
	GPCR ligand binding	0.75			G alpha (i) signalling events	0.44

Classical Complement Pathway

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

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Immune response_Classical complement pathway

Immune response_Classical complement pathway

1.00

Immune response Classic complement pathway

0.98

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for C5

	Immune response Alternative complement pathway
	Immune response Classic complement pathway
	Immune response Lectin Induced complement pathway

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C5

	Alternative Complement Pathway
	Classical Complement Pathway
	Lectin Induced Complement Pathway
	Complement Pathway

3 GeneGo (Thomson Reuters) Pathways for C5

	Immune response Alternative complement pathway
	Immune response Classical complement pathway
	Immune response Lectin induced complement pathway

1 BioSystems Pathway for C5

Complement Activation, Classical Pathway

5/12 Reactome Pathways for C5 (see all 12)

	GPCR downstream signaling
	Peptide ligand-binding receptors
	Signaling by GPCR
	Terminal pathway of complement
	GPCR ligand binding

5 Kegg Pathways (Kegg details for C5):

	Complement and coagulation cascades
	Prion diseases
	Pertussis
	Staphylococcus aureus infection
	Systemic lupus erythematosus

C5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for C5

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/159 Interacting proteins for C5 (P01031^{2, 3} ENSP00000223642⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 159)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	P01024²^,³, ENSP00000245907⁴	MINT-8143443 I2D: score=2 STRING: ENSP00000245907
C5AR1	P21730³, ENSP00000347197⁴	I2D: score=3 STRING: ENSP00000347197
C6	P13671³, ENSP00000263413⁴	I2D: score=2 STRING: ENSP00000263413
C8B	P07358³, ENSP00000360281⁴	I2D: score=2 STRING: ENSP00000360281
CPN1	P15169³, ENSP00000359446⁴	I2D: score=1 STRING: ENSP00000359446

About this table

Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000187	activation of MAPK activity	TAS	7649993
GO:0001701	in utero embryonic development	IEA	--
GO:0002523	leukocyte migration involved in inflammatory response	IEA	--
GO:0006874	cellular calcium ion homeostasis	IEA	--
GO:0006917	induction of apoptosis	IEA	--

C5 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

C5 for compounds About GeneDecksing

EMD Millipore small molecules for C5:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C5

2 DrugBank Compounds for C5 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Eculizumab	--	219685-50-4	target	antibody	20378572 20011245 16990386 17139284 18784156 11752352 19399743 17016423 17702897 17989688
Intravenous Immunoglobulin	Ig alpha-2 chain C region (see all 3)	9007-83-4	target	binder	17351760 20441428 17911465

3 Novoseek chemical compound relationships for C5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
anaphylatoxin	81.7	3	9642242 (1), 11487475 (1)
chloramine t	65.8	9	1542301 (5)
methionine	21.6	6	1542301 (4), 1592429 (1)

Search CenterWatch for drugs/clinical trials and news about C5 / CO5

(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 C5 gene:

NM_001735.2

Unigene Cluster for C5:

Complement component 5

Hs.494997 [show with all ESTs]

Unigene Representative Sequence: AB209031

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

ENST00000223642(uc004bkv.3 uc010mvm.1 uc010mvn.1) ENST00000480188

ENST00000489802 ENST00000466280 ENST00000460578

miRNA Products:		OriGene 3'-UTR Clone: C5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C5
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate C5:
		hsa-miR-498 hsa-miR-4307 hsa-miR-205* hsa-miR-4263
		SwitchGear 3'UTR luciferase reporter plasmid: C5 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 C5 (see all 4) OriGene shRNA RFP: C5 OriGene siRNA: C5
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		GenScript: all cDNA clones in your preferred vector (see all 3): C5 (NM_001168)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C5

Additional cDNA sequence:

AB209031.1 AK310774.1 AK310780.1 BC022299.1 BC113738.1 BC113740.1 M57729.1 M65134.1

12 DOTS entries:

DT.214209 DT.121202620 DT.214210 DT.100796054 DT.75125468 DT.406760 DT.121202646 DT.91905632

DT.92424841 DT.92424842 DT.97804026 DT.40119812

24/111 AceView cDNA sequences (see all 111):

AW052047 AA329952 AA780059 AI685025 AW516545 BX503344 M65134 AI767917

R29419 N49110 NM_001735 CB162771 AV682721 N50222 AV648298 BQ643579

BX117573 AV648490 CB138210 BX102574 CB135782 CB135798 CB138223 BG618119

GeneLoc Exon Structure

(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

C5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTTTGCTT

About this image

C5 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Definitive endoderm-like cells (Generation and expan...)

Endoderm progenitor-like cells (Generation and expan...)

Definitive endoderm-like cells (Generation of mesend...)

Mesendoderm-like cells (Generation of mesend...)

Definitive Endoderm (Generation of beta c...)

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C5

SOURCE GeneReport for Unigene cluster: Hs.494997

SABiosciences Expression via Pathway-Focused PCR Arrays including C5:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Inflammatory Cytokines & Receptors in human mouse rat

Cytokines & Chemokines in human mouse rat

Common Cytokines in human mouse rat

Chemokines & Receptors in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C5 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat C5
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C5

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5

(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 C5 gene from 2/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	C5¹	complement component 5	64.52(n) 56.96(a)		417122 XM_415405.3 XP_415405.3
zebrafish (Danio rerio)	Actinopterygii	c5¹	complement component 5	51.17(n) 40.34(a)		565774 XM_001919191.4 XP_001919226.3

ENSEMBL Gene Tree for C5 (if available)
TreeFam Gene Tree for C5 (if available)

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

Paralogs for C5 gene

A2ML1² C4B² C4A² CPAMD8² CD109² A2M² C3² PZP²

1 SIMAP similar gene for C5 using alignment to 1 protein entry: CO5_HUMAN:

C5 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

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121909587^1,2	C,F,	pathogenic	94938992(-)	`GGGGAC/TAGGAG`	2	Q *	stg¹		1	NA	4550
rs121909588^1,2	C	pathogenic	95026855(-)	`GTGTAC/TGATTC`	2	R *	stg¹		1	NA	4546
rs12005198^1,2	C,F,H,	--	93331877(+)	`GGGAAA/GGAGAG`	1	--	int¹		15	NA NS WA CSA	1167
rs41314053^1,2	C,F	--	93331922(-)	`TCCCCG/ATCCAT`	1	--	int¹		3	NS CSA	95
rs41314051^1,2	C,	--	93331962(-)	`TCAGCG/ACACTG`	1	--	int¹		3	NS WA	212
rs41314045^1,2	C,	--	93332772(-)	`CGAGAG/AGCAGA`	1	--	int¹		2	NS	76
rs41313643^1,2	C,F,	--	93332818(-)	`TAGTCC/TCAGCT`	1	--	int¹		3	NS NA	82
rs41313641^1,2	C,F,	--	93332920(-)	`GATCAC/TAAGGT`	1	--	int¹		3	NS CSA	91
rs10985106^1,2	C,F,	--	93332969(+)	`gtgagC/Tcaccg`	1	--	int¹		3	NS WA	92
rs41313639^1,2	C,F,	--	93333186(-)	`ATGTGT/GAAATA`	1	--	int¹		4	NS CSA WA	209

HapMap Linkage Disequilibrium report for C5 (123714613 - 123812554 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C5
1 CNV: 3780
Human Gene Mutation Database (HGMD): C5

Locus Specific Mutation Databases (LSDB): C5

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C5

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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

C5 for disorders           About GeneDecksing

OMIM gene information: 120900
OMIM disorders: 609536
UniProtKB/Swiss-Prot: CO5_HUMAN, P01031

Defects in C5 are the cause of complement component 5 deficiency (C5D) [MIM:609536]. A rare defect of the

complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria

gonorrhoeae or Neisseria meningitidis

Note=An association study of C5 haplotypes and genotypes in individuals with chronic hepatitis C virus

infection shows that individuals homozygous for the C5_1 haplotype have a significantly higher stage of liver fibrosis

than individuals carrying at least 1 other allele (PubMed:15995705)

20/58 diseases for C5 (see all 58): About MalaCards

complement component 5 deficiency rheumatoid arthritis liver fibrosis fibrosis

arthritis age related macular degeneration rapidly progressive glomerulonephritis hemolytic-uremic syndrome

adult respiratory distress syndrome acute poststreptococcal glomerulonephritis non-hodgkin lymphoma alopecia areata

wegener's granulomatosis macular degeneration chronic obstructive pulmonary disease complement deficiency

systemic lupus erythematosus lupus erythematosus hodgkin's lymphoma bronchial asthma

1 disease from the University of Copenhagen DISEASES database for C5:

Complement deficiency

Genatlas disease: C5

neisserial recurrent infections,lupus systemic syndrome

Genetic Association Database (GAD): C5
Human Genome Epidemiology (HuGE) Navigator: C5 (74 documents)

Export disorders for C5 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 C5 gene, integrated from 9 sources (see all 200):
(articles sorted by number of sources associating them with C5)

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

Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. (PubMed id 15278436)^{1, 4, 9} Hasegawa K....Suzuki Y. (2004)
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. (PubMed id 15488949)^{1, 2} Delgado-Cervino E.... Lopez-Trascasa M. (2005)
Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans. (PubMed id 15995705)^{1, 2} Hillebrandt S.... Lammert F. (2005)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Functional insights from the structure of the multifunctional C345C domain of C5 of complement. (PubMed id 15598652)^{1, 2} Bramham J....Barlow P.N. (2005)
Linking C5 deficiency to an exonic splicing enhancer mutation. (PubMed id 15778377)^{1, 2} Pfarr N.... Pohlenz J. (2005)
Solution structure of a unique C5a semi-synthetic antagonist: implications in receptor binding. (PubMed id 9007977)^{1, 2} Zhang X.... Gonnella N.C. (1997)
Structural definition of the C5a C-terminus by two-dimensional nuclear magnetic resonance spectroscopy. (PubMed id 9188742)^{1, 2} Zhang X.... Gonnella N.C. (1997)
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. (PubMed id 7730648)^{1, 2} Wang X.... Wetsel R.A. (1995)
Complete cDNA sequence of human complement pro-C5. Evidence of truncated transcripts derived from a single copy gene. (PubMed id 1984448)^{1, 2} Haviland D.L.... Wetsel R.A. (1991)

(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: 727	HGNC: 1331	AceView: C5	Ensembl:ENSG00000106804	euGenes: HUgn727
ECgene: C5	Kegg: 727	H-InvDB: C5

(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 C5	Pharmacogenomics, SNPs, Pathways
C5base	http://bioinf.uta.fi/C5base/
Wikipedia	http://en.wikipedia.org/wiki/Complement_component_5
SeattleSNPs	http://pga.gs.washington.edu/data/c5/

Intellectual Property for C5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C5 gene:
Search GeneIP for patents involving C5

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

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