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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C7 Gene

protein-coding GIFtS: 66
GCID: GC05P040945

complement component 7

Explore 18 diseases affiliated with
C7 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 7¹ ²
Complement Component C7²

External Ids:	HGNC: 1346¹	Entrez Gene: 730²	Ensembl: ENSG00000112936⁷	OMIM: 217070⁵	UniProtKB: P10643³

Export aliases for C7 gene to outside databases

Previous GC identifers: GC05P041235 GC05P042001 GC05P040909 GC05P040955 GC05P040974

(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 C7:

C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People

with C7 deficiency are prone to bacterial infection. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CO7_HUMAN, P10643

Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune

response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor

(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_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C7 gene promoter:
RFX1 HOXA3 Nkx2-2 Nkx2-5 AP-4 Evi-1 C/EBPalpha FOXJ2 (long isoform) FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C7 promoter sequence

Search SABiosciences Chromatin IP Primers for C7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7

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

Entrez Gene cytogenetic band: 5p13 Ensembl cytogenetic band: 5p13.1 HGNC chromosome: 5

C7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P040945: view genomic region (about GC identifiers)

Start:	40,909,354 bp from pter	End:	40,983,041 bp from pter
Size:	73,688 bases	Orientation:	plus 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: CO7_HUMAN, P10643 (See protein sequence)

Recommended Name: Complement component C7 precursor

Size: 843 amino acids; 93518 Da

Subunit: Monomer or dimer; as a C5b-7 complex it can also form multimeric rosettes. MAC assembly is initiated by

protelytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming

subunit C9

Subcellular location: Secreted

1 PDB 3D structure from and Proteopedia for C7:

2WCY (3D)

Secondary accessions: Q6P3T5 Q92489

Explore the universe of human proteins at neXtProt for C7: NX_P10643

Post-translational modifications:

C7 has 28 disulfide bridges¹

O- and C-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10643

C7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000578.2

ENSEMBL proteins:

ENSP00000322061

Reactome Protein details: P10643
Human Recombinant Protein Products for C7:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals C7 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for C7

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:0005579	membrane attack complex	IEA	--

C7 for ontologies About GeneDecksing

C7 Antibody Products:

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	Abcam antibodies for C7
	Uscn Antibodies for C7
	ThermoFisher Antibody for C7

Assay Products for C7:

	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 Custom Assay Services for C7
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for C7

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

C7 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002172 LDrepeatLR_classA_rpt

IPR000884 Thrombospondin_1_rpt

IPR001862 MAC_perforin

IPR023415 LDLR_class-A_CS

IPR020864 MACPF

Graphical View of Domain Structure for InterPro Entry P10643

ProtoNet protein and cluster: P10643

5/6 Blocks protein families (see all 6):

IPB000436 Sushi domain/SCR domain/CCP module

IPB000884 Thrombospondin

IPB001862 Membrane attack complex component/perforin/complement C9

IPB002172 Low density lipoprotein-receptor

IPB003884 Factor I membrane attack complex

UniProtKB/Swiss-Prot: CO7_HUMAN, P10643

Similarity: Belongs to the complement C6/C7/C8/C9 family

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 LDL-receptor class A domain

Similarity: Contains 1 MACPF domain

Similarity: Contains 2 Sushi (CCP/SCR) domains

Similarity: Contains 2 TSP type-1 domains

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: CO7_HUMAN, P10643

Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune

response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor

Genatlas biochemistry entry for C7:

complement component 7,beta-2 globulin,complexing with other late components of the cascade to form the membrane attack

complex

Phenotypes:
2 GenomeRNAi human phenotypes for C7:

Increased Salmonella enterica

Synthetic lethal with Ras

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C7

miRNA Products:		OriGene 3'-UTR Clone: C7 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C7
		8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate C7 (see all 17):
		hsa-miR-2052 hsa-miR-4311 hsa-miR-19b-2* hsa-miR-1324 hsa-miR-3922-3p hsa-miR-19b-1* hsa-miR-19a* hsa-miR-514

		SwitchGear 3'UTR luciferase reporter plasmid: C7 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 C7 OriGene shRNA RFP: C7 OriGene siRNA: C7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C7
		Sirion Biotech Custom design and validation of potent shRNA sequences against C7

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for C7
			Sirion Biotech Customized adenovirus for overexpression of C7 Sirion Biotech Customized adenovirus for potent knockdown of C7

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C7 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C7 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: C7 (NM_000587)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for C7
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		Sirion Biotech Customized stable knockdown cell line services for C7 Sirion Biotech Customized inducible knockdown cell line services for C7 Sirion Biotech Customized stable overexpressing cell line services for C7 Sirion Biotech Customized inducible overexpressing cell line services for C7

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7

(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 - 5/9 super-pathways (see all 9) 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

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

Immune response_Classical complement pathway

Immune response_Classical complement pathway

1.00

Immune response Classic complement pathway

0.98

Terminal pathway of complement

Terminal pathway of complement

1.00

Alternative Complement Pathway

0.64

Immune System

Immune System

1.00

Innate Immune System

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for C7

	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 C7

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

3 GeneGo (Thomson Reuters) Pathways for C7

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

2 BioSystems Pathways for C7

	Complement Activation, Classical Pathway
	Complement and Coagulation Cascades

4 Reactome Pathways for C7

	Terminal pathway of complement
	Complement cascade
	Immune System
	Innate Immune System

3 Kegg Pathways (Kegg details for C7):

	Complement and coagulation cascades
	Prion diseases
	Systemic lupus erythematosus

C7 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for C7

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/9 Interacting proteins for C7 (P10643^{2, 3} ENSP00000322061⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C5	P01031³, ENSP00000223642⁴	I2D: score=2 STRING: ENSP00000223642
CLU	P10909³, ENSP00000315130⁴	I2D: score=2 STRING: ENSP00000315130
PLG	P00747³, ENSP00000308938⁴	I2D: score=2 STRING: ENSP00000308938
C6	ENSP00000263413⁴	STRING: ENSP00000263413
C8A	ENSP00000354458⁴	STRING: ENSP00000354458

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:0006956	complement activation	TAS	3335508
GO:0006957	complement activation, alternative pathway	IEA	--
GO:0006958	complement activation, classical pathway	IEA	--
GO:0019835	cytolysis	IEA	--
GO:0045087	innate immune response	TAS	--

C7 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C7
Search CenterWatch for drugs/clinical trials and news about C7 / CO7

(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, Sirion Biotech, 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 C7 gene:

NM_000587.2

Unigene Cluster for C7:

Complement component 7

Hs.78065 [show with all ESTs]

Unigene Representative Sequence: NM_000587

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

ENST00000313164(uc011cpn.1 uc003jmh.3) ENST00000508185 ENST00000489457

ENST00000486779 ENST00000513922 ENST00000494960 ENST00000464864

miRNA Products:		OriGene 3'-UTR Clone: C7 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C7
		8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate C7 (see all 17):
		hsa-miR-2052 hsa-miR-4311 hsa-miR-19b-2* hsa-miR-1324 hsa-miR-3922-3p hsa-miR-19b-1* hsa-miR-19a* hsa-miR-514

		SwitchGear 3'UTR luciferase reporter plasmid: C7 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 C7 OriGene shRNA RFP: C7 OriGene siRNA: C7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C7
		Sirion Biotech Custom design and validation of potent shRNA sequences against C7

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C7 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C7 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: C7 (NM_000587)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C7 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat C7
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7

Additional cDNA sequence:

AK290349.1 AK304848.1 AK312737.1 BC025402.1 BC041807.1 BC063851.1 BC065305.1 J03507.1

Y11720.1

8 DOTS entries:

DT.95086709 DT.204634 DT.454592 DT.86852981 DT.91714593 DT.100684743 DT.120858851 DT.91966921

24/235 AceView cDNA sequences (see all 235):

AA319067 AA916080 BQ694652 AW151917 BQ949164 CA407331 CA396049 CR600042

AA947900 BE326752 AI732953 BG540378 AI732952 BQ673013 BM955571 AA953308

BC025402 BG541157 AI675029 AI826867 BP382340 BQ030206 NM_000587 AL551659

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C7 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	^	16	^	17a	·	17b
SP1:																											-								-
SP2:							-		-		-		-		-		-
SP3:
SP4:

ECgene alternative splicing isoforms for C7

(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

C7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTGACTGTG

About this image

C7 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: 7 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

White adipocyte-like cells (Differentiation of ...)

Adipose

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

Bone, Cartilage

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C7

SOURCE GeneReport for Unigene cluster: Hs.78065

SABiosciences Custom PCR Arrays for C7

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C7 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat C7
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7

(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 C7 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	C7¹	complement component 7	66.3(n) 60.19(a)		427187 XM_424774.3 XP_424774.2
lizard (Anolis carolinensis)	Reptilia	C7⁶	--	55(a)	1 ↔ 1	2(6919835-6946668)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11855²	Transcribed sequence with weak similarity to protein more	74.78(n)		142025285
zebrafish (Danio rerio)	Actinopterygii	c7a¹	complement component 7a	52.36(n) 44.28(a)		562475 XM_685854.5 XP_690946.4

ENSEMBL Gene Tree for C7 (if available)
TreeFam Gene Tree for C7 (if available)

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

Paralogs for C7 gene

C6² C9² C8B² C8A²

3 SIMAP similar genes for C7 using alignment to 3 protein entries: CO7_HUMAN (see all proteins):

C8B C6 C9

C7 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for C7
PGOHUM00000249667

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121964921^1,2	C	pathogenic	40907337(+)	`TCAGAG/CGGGGA`	2	/R /G	mis¹		1		EU	593
rs121964920^1,2	C	pathogenic	40911429(+)	`GAAGCC/AGTGAA`	2	/S /R	mis¹		1		EU	569
rs12109603^1,2	C,F,H	--	40859824(+)	`TGAAAT/CGGAAT`	1	--	us2k¹		8		NS EA NA WA	680
rs12153063^1,2	C,F,H	--	40859944(+)	`TTCTTC/ACACAC`	1	--	us2k¹		19		NS EA MN NA WA	2290
rs111884912^1,2		--	40860017(+)	`ATGAGG/AGGAGG`	1	--	us2k¹		3		CSA WA	121
rs7735661^1,2	C,A	--	40860433(+)	`gacggA/Ggtttc`	1	--	us2k¹		1		CSA	1
rs7717507^1,2	C,A	--	40860441(+)	`ttcacC/Tgtatt`	1	--	us2k¹		1		CSA	1
rs7735416^1,2	C,F,A	--	40860473(+)	`ctgacC/Atcttg`	1	--	us2k¹		1		WA	118
rs11959351^1,2	H	--	40860676(+)	`ATAAGA/TCAAGA`	1	--	us2k¹		4		NS EA	416
rs35010920^1,2	C	--	40861773(+)	`GTCAT-/AAAG AAATA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C7 (40909354 - 40983041 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C7
2 CNVs: 9018 2577
Human Gene Mutation Database (HGMD): C7

Locus Specific Mutation Databases (LSDB): C7

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C7

DNA2.0 Custom Variant and Variant Library Synthesis for C7

(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

C7 for disorders           About GeneDecksing

OMIM gene information: 217070
OMIM disorders: 610102
UniProtKB/Swiss-Prot: CO7_HUMAN, P10643

Defects in C7 are a cause of complement component 7 deficiency (C7D) [MIM:610102]. A rare defect of the

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

gonorrhoeae or Neisseria meningitidis

18 diseases for C7: About MalaCards

pyoderma meningococcal infection complement deficiency systemic lupus erythematosus

lupus erythematosus hodgkin's lymphoma prion disease multiple sclerosis

hepatitis b meningioma hepatitis leukemia

carcinoma septic shock

Genatlas disease: C7

infections,recurrent,neisserial

Genetic Association Database (GAD): C7
Human Genome Epidemiology (HuGE) Navigator: C7 (28 documents)

Export disorders for C7 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 C7 gene, integrated from 9 sources (see all 59):
(articles sorted by number of sources associating them with C7)

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Solution structure of factor I-like modules from complement C7 reveals a pair of follistatin domains in compact pseudosymmetric arrangement. (PubMed id 19419965)^{1, 2, 9} Phelan M.M....Bramham J. (2009)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)^{1, 2} Bunkenborg J.... Wisniewski J.R. (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)
The four terminal components of the complement system are C- mannosylated on multiple tryptophan residues. (PubMed id 10551839)^{1, 2} Hofsteenge J.... Miroshnichenko O. (1999)
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. (PubMed id 9856499)^{1, 2} Fernie B.A. and Hobart M.J. (1998)
Molecular bases of C7 deficiency: three different defects. (PubMed id 9218625)^{1, 2} Fernie B.A.... Hobart M.J. (1997)
Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. (PubMed id 8871666)^{1, 2} Fernie B.A....Hobart M.J. (1996)
Structure of the human C7 gene and comparison with the C6, C8A, C8B and C9 genes. (PubMed id 7730625)^{1, 2} Hobart M.J.... DiScipio R.G. (1995)
The structure of human complement component C7 and the C5b-7 complex. (PubMed id 3335508)^{1, 2} Discipio R.G.... Fey G.H. (1988)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 730	HGNC: 1346	AceView: C7	Ensembl:ENSG00000112936	euGenes: HUgn730
ECgene: C7	Kegg: 730	H-InvDB: C7

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for C7	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for C7	Genetics and Cytogenetics in Oncology and Haematology
C7base	http://bioinf.uta.fi/C7base/

Intellectual Property for C7 gene
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Patent Information for C7 gene:
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C7 Gene

complement component 7

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