C9 (complement C9)

2010-03-01  

Identity

HGNC
C9
LOCATION
5p13.1
LOCUSID
735
ALIAS
ARMD15,C9D
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 735
MIM: 120940
HGNC: 1358
Ensembl: ENSG00000113600

Variants:

dbSNP: 735
ClinVar: 735
TCGA: ENSG00000113600
COSMIC: C9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113600ENST00000263408P02748

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Terminal pathway of complementREACTOMER-HSA-166665
Regulation of Complement cascadeREACTOMER-HSA-977606

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
bone marrow

References

Pubmed IDYearTitleCitations
363768722022Hepatitis B virus suppresses complement C9 synthesis by limiting the availability of transcription factor USF-1 and inhibits formation of membrane attack complex: implications in disease pathogenesis.3
363768722022Hepatitis B virus suppresses complement C9 synthesis by limiting the availability of transcription factor USF-1 and inhibits formation of membrane attack complex: implications in disease pathogenesis.3
337834772021The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.10
338815852021The function of adipsin and C9 protein in the complement system in HIV-associated preeclampsia.0
337834772021The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.10
338815852021The function of adipsin and C9 protein in the complement system in HIV-associated preeclampsia.0
297677202018Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.9
300900152018Osmotic and hypoxic induction of the complement factor C9 in cultured human retinal pigment epithelial cells: Regulation of VEGF and NLRP3 expression.11
297677202018Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.9
300900152018Osmotic and hypoxic induction of the complement factor C9 in cultured human retinal pigment epithelial cells: Regulation of VEGF and NLRP3 expression.11
267676642016Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.37
267676642016Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.37
257357512015Exposure to the complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis.8
264049052015Serum Glycoprotein Biomarker Discovery and Qualification Pipeline Reveals Novel Diagnostic Biomarker Candidates for Esophageal Adenocarcinoma.19
257357512015Exposure to the complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis.8

Citation

Dessen P

C9 (complement C9)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51369/c9-(complement-c9)