C6 complement C6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C6provided by HGNC
Official Full Name: complement C6provided by HGNC
Primary source: HGNC:HGNC:1339
See related: Ensembl:ENSG00000039537 MIM:217050; AllianceGenome:HGNC:1339
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 component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
Expression: Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (41142116..41261469, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (41398594..41517945, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (41142218..41261571, complement)

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 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?

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.
specific association of NR1I3, C6 and TNN with low hip BMD risk
Title: Multiple analyses indicate the specific association of NR1I3, C6 and TNN with low hip BMD risk.
Our study provided novel evidence that genetic variations in complement genes C6 and MASP1were associated with preeclampsia risk, and that the risk varied by preeclampsia subtypes
Title: Polymorphisms in complement genes and risk of preeclampsia in Taiyuan, China.
recipient C6 rs9200 polymorphism is associated with HCC recurrence after OLT, and improves the predictive value of clinical models.
Title: Recipient C6 rs9200 genotype is associated with hepatocellular carcinoma recurrence after orthotopic liver transplantation in a Han Chinese population.
Complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis.
Title: Exposure to the complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis.
Crystal structure of C5b-6 suggests structural basis for priming assembly of the membrane attack complex.
Title: Crystal structure of C5b-6 suggests structural basis for priming assembly of the membrane attack complex.
Structure of complement C6 suggests a mechanism for initiation and unidirectional, sequential assembly of membrane attack complex (MAC).
Title: Structure of complement C6 suggests a mechanism for initiation and unidirectional, sequential assembly of membrane attack complex (MAC).
finding of very high serious morbidity in patients with complete C6 deficiency due to meningococcal infections
Title: Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.
Genetic polymorphisms in C6 gene do not influence the risk of aspirin hypersensitivity in Korean asthmatic patients.
Title: Association analysis of C6 genetic variations and aspirin hypersensitivity in Korean asthmatic patients.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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 6 deficiency MedGen: C2676232 OMIM: 612446 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:352711 (e-PCR)
- UniSTS:156702

SHGC-78720 (e-PCR)
- UniSTS:95591

RH122809 (e-PCR)
- UniSTS:135044

C6 (e-PCR), detects polymorphism
- UniSTS:505773

STS-X72177 (e-PCR)
- UniSTS:7604

SHGC-106966 (e-PCR)
- UniSTS:183998

D5S2425 (e-PCR)
- UniSTS:64456

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	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 C6

Names: complement component 6

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_011582.1 RefSeqGene

Range

5001..124293

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_29

mRNA and Protein(s)

NM_000065.5 → NP_000056.2 complement component C6 precursor

See identical proteins and their annotated locations for NP_000056.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC008863, DA642358, J05064

Consensus CDS

CCDS3936.1

UniProtKB/Swiss-Prot

P13671

UniProtKB/TrEMBL

A8K8Z4

Related

ENSP00000338861.5, ENST00000337836.10

Conserved Domains (7) summary

cd00033
Location:644 → 700

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

smart00032
Location:704 → 755

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

smart00057
Location:862 → 934

FIMAC; factor I membrane attack complex

smart00209
Location:568 → 623

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 127

TSP_1; Thrombospondin type 1 domain
NM_001115131.4 → NP_001108603.2 complement component C6 precursor

See identical proteins and their annotated locations for NP_001108603.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC008863, AC091871, BC035723, BJ993387, J05064

Consensus CDS

CCDS3936.1

UniProtKB/Swiss-Prot

P13671

UniProtKB/TrEMBL

A8K8Z4

Related

ENSP00000263413.3, ENST00000263413.7

Conserved Domains (7) summary

cd00033
Location:644 → 700

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

smart00032
Location:704 → 755

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

smart00057
Location:862 → 934

FIMAC; factor I membrane attack complex

smart00209
Location:568 → 623

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 127

TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

41142116..41261469 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417689.1 → XP_047273645.1 complement component C6 isoform X5
XM_011514119.4 → XP_011512421.1 complement component C6 isoform X4

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:653 → 709

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

smart00032
Location:713 → 764

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

smart00057
Location:880 → 952

FIMAC; factor I membrane attack complex

smart00209
Location:577 → 632

TSP1; Thrombospondin type 1 repeats

smart00457
Location:322 → 523

MACPF; membrane-attack complex / perforin

cd00112
Location:151 → 182

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 ...

pfam00090
Location:94 → 142

TSP_1; Thrombospondin type 1 domain
XM_006714496.5 → XP_006714559.1 complement component C6 isoform X3

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:672 → 728

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

smart00032
Location:732 → 783

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

smart00057
Location:890 → 962

FIMAC; factor I membrane attack complex

smart00209
Location:596 → 651

TSP1; Thrombospondin type 1 repeats

smart00457
Location:322 → 523

MACPF; membrane-attack complex / perforin

cd00112
Location:151 → 182

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 ...

cl15278
Location:94 → 136

TSP_1; Thrombospondin type 1 domain
XM_011514114.4 → XP_011512416.1 complement component C6 isoform X1

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:672 → 728

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

smart00032
Location:732 → 783

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

smart00057
Location:899 → 971

FIMAC; factor I membrane attack complex

smart00209
Location:596 → 651

TSP1; Thrombospondin type 1 repeats

smart00457
Location:322 → 523

MACPF; membrane-attack complex / perforin

cd00112
Location:151 → 182

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 ...

cl15278
Location:94 → 136

TSP_1; Thrombospondin type 1 domain
XM_011514115.4 → XP_011512417.1 complement component C6 isoform X2

See identical proteins and their annotated locations for XP_011512417.1

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:663 → 719

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

PHA02831
Location:663 → 785

PHA02831; EEV host range protein; Provisional

smart00057
Location:890 → 962

FIMAC; factor I membrane attack complex

smart00209
Location:587 → 642

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 133

TSP_1; Thrombospondin type 1 domain
XM_011514116.4 → XP_011512418.1 complement component C6 isoform X2

See identical proteins and their annotated locations for XP_011512418.1

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:663 → 719

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

PHA02831
Location:663 → 785

PHA02831; EEV host range protein; Provisional

smart00057
Location:890 → 962

FIMAC; factor I membrane attack complex

smart00209
Location:587 → 642

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 133

TSP_1; Thrombospondin type 1 domain
XM_047417687.1 → XP_047273643.1 complement component C6 isoform X2
XM_011514117.4 → XP_011512419.1 complement component C6 isoform X2

See identical proteins and their annotated locations for XP_011512419.1

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:663 → 719

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

PHA02831
Location:663 → 785

PHA02831; EEV host range protein; Provisional

smart00057
Location:890 → 962

FIMAC; factor I membrane attack complex

smart00209
Location:587 → 642

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 133

TSP_1; Thrombospondin type 1 domain
XM_017009818.3 → XP_016865307.1 complement component C6 isoform X2

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:663 → 719

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

PHA02831
Location:663 → 785

PHA02831; EEV host range protein; Provisional

smart00057
Location:890 → 962

FIMAC; factor I membrane attack complex

smart00209
Location:587 → 642

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 133

TSP_1; Thrombospondin type 1 domain
XM_011514118.4 → XP_011512420.1 complement component C6 isoform X2

See identical proteins and their annotated locations for XP_011512420.1

UniProtKB/TrEMBL

A8K8Z4

Conserved Domains (7) summary

cd00033
Location:663 → 719

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

PHA02831
Location:663 → 785

PHA02831; EEV host range protein; Provisional

smart00057
Location:890 → 962

FIMAC; factor I membrane attack complex

smart00209
Location:587 → 642

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 → 514

MACPF; membrane-attack complex / perforin

cd00112
Location:142 → 173

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 ...

pfam00090
Location:85 → 133

TSP_1; Thrombospondin type 1 domain
XM_047417688.1 → XP_047273644.1 complement component C6 isoform X2