C7 complement C7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C7provided by HGNC
Official Full Name: complement C7provided by HGNC
Primary source: HGNC:HGNC:1346
See related: Ensembl:ENSG00000112936 MIM:217070; AllianceGenome:HGNC:1346
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
Expression: Broad expression in adrenal (RPKM 552.9), gall bladder (RPKM 224.3) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (40909497..40984643)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (41165912..41241067)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (40909599..40984745)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional genetic variants in complement component 7 confer susceptibility to gastric cancer.
Title: Functional genetic variants in complement component 7 confer susceptibility to gastric cancer.
Similarities and differences in the structures and proteoform profiles of the complement proteins C6 and C7.
Title: Similarities and differences in the structures and proteoform profiles of the complement proteins C6 and C7.
Complement component 7 is associated with total- and cardiac death in chest-pain patients with suspected acute coronary syndrome.
Title: Complement component 7 is associated with total- and cardiac death in chest-pain patients with suspected acute coronary syndrome.
Recipient C7 rs9292795 genotype and the risk of hepatocellular carcinoma recurrence after orthotopic liver transplantation in a Han Chinese population.
Title: Recipient C7 rs9292795 genotype and the risk of hepatocellular carcinoma recurrence after orthotopic liver transplantation in a Han Chinese population.
The complement C7 variant rs3792646 is associated with amyotrophic lateral sclerosis in a Han Chinese population.
Title: The complement C7 variant rs3792646 is associated with amyotrophic lateral sclerosis in a Han Chinese population.
Evaluation of Serum and Gene Expression of Galectin-4, Interleukin-27, and Complement-7 in Hepatitis C Virus-Infected Egyptian Patients.
Title: Evaluation of Serum and Gene Expression of Galectin-4, Interleukin-27, and Complement-7 in Hepatitis C Virus-Infected Egyptian Patients.
this study shows that GG genotype of C7 provides protection against fibrosis severity while showing a higher risk for hepatocellular carcinoma in patients with hepatitis C
Title: Two sides of a coin: GG genotype of C7 provides protection against fibrosis severity while showing a higher risk for hepatocellular carcinoma in patients with hepatitis C.
Two case reports of C7 deficiency leading to recurrent meningitis and other bacterial infections are described.
Title: [Recurrent meningitis and inherited complement deficiency].
The complement C7 rs6876739 CC genotypes and mannan-binding lectin (MBL2) gene polymorphisms of liver donors were significantly associated with bacterial infection in recipients.
Title: C7 genotype of the donor may predict early bacterial infection after liver transplantation.
Complement proteins C7 and CFH control the stemness of liver cancer cells via LSF-1 pathway.
Title: Complement proteins C7 and CFH control the stemness of liver cancer cells via LSF-1.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Complement component 7 deficiency MedGen: C1864694 OMIM: 610102 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of complement component 7 (C7) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2658 (e-PCR)
- UniSTS:35584

GDB:594803 (e-PCR)
- UniSTS:158002

C7_298 (e-PCR)
- UniSTS:277045

RH80221 (e-PCR)
- UniSTS:87127

GDB:623672 (e-PCR)
- UniSTS:158320

GDB:623675 (e-PCR)
- UniSTS:158321

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, alternative pathway	IEA Inferred from Electronic Annotation more info
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in killing of cells of another organism	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of immune response	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of membrane attack complex	IBA Inferred from Biological aspect of Ancestor more info
part_of membrane attack complex	IDA Inferred from Direct Assay more info	PubMed
part_of membrane attack complex	IPI Inferred from Physical Interaction more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: complement component C7

Names: complement component 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011692.1 RefSeqGene

Range

5001..78443

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_30

mRNA and Protein(s)

NM_000587.4 → NP_000578.2 complement component C7 precursor

See identical proteins and their annotated locations for NP_000578.2

Status: REVIEWED

Source sequence(s)

AC114967, AI654048, BC025402, BC063851

Consensus CDS

CCDS47201.1

UniProtKB/Swiss-Prot

A8K2T4, P10643, Q6P3T5, Q92489

UniProtKB/TrEMBL

B2R6W1

Related

ENSP00000322061.9, ENST00000313164.10

Conserved Domains (5) summary

smart00057
Location:771 → 840

FIMAC; factor I membrane attack complex

smart00209
Location:503 → 545

TSP1; Thrombospondin type 1 repeats

smart00457
Location:250 → 450

MACPF; membrane-attack complex / perforin

cd00112
Location:89 → 119

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cl27761
Location:571 → 683

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system