C1QC (complement C1q C chain)

2011-02-01  

Identity

HGNC
C1QC
LOCATION
1p36.12
LOCUSID
714
ALIAS
C1Q-C,C1QG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 714
MIM: 120575
HGNC: 1245
Ensembl: ENSG00000159189

Variants:

dbSNP: 714
ClinVar: 714
TCGA: ENSG00000159189
COSMIC: C1QC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159189ENST00000374637P02747
ENSG00000159189ENST00000374637A0A024RAA7
ENSG00000159189ENST00000374639P02747
ENSG00000159189ENST00000374639A0A024RAA7
ENSG00000159189ENST00000374640P02747
ENSG00000159189ENST00000374640A0A024RAA7

Expression (GTEx)

0
500
1000
1500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
PertussisKEGGko05133
PertussisKEGGhsa05133
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Creation of C4 and C2 activatorsREACTOMER-HSA-166786
Classical antibody-mediated complement activationREACTOMER-HSA-173623

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
343209152022Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids.8
357659472022Complement C1QC as a potential prognostic marker and therapeutic target in colon carcinoma based on single-cell RNA sequencing and immunohistochemical analysis.7
343209152022Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids.8
357659472022Complement C1QC as a potential prognostic marker and therapeutic target in colon carcinoma based on single-cell RNA sequencing and immunohistochemical analysis.7
331311942021C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.4
331311942021C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.4
331820452020Clinical and prognostic significance of C1q deposition in IgAN patients-a retrospective study.2
331820452020Clinical and prognostic significance of C1q deposition in IgAN patients-a retrospective study.2
310199992019C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.7
310199992019C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.7
241574632014Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.1
251092582014Complement activation in patients with neuromyelitis optica.32
241574632014Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.1
251092582014Complement activation in patients with neuromyelitis optica.32
236078842013Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis.17

Citation

Dessen P

C1QC (complement C1q C chain)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52054