CFHR3 (complement factor H related 3)

2014-11-01  

Identity

HGNC
CFHR3
LOCATION
1q31.3
LOCUSID
10878
ALIAS
CFHL3,DOWN16,FHR-3,FHR3,HLF4

Other Information

Locus ID:

NCBI: 10878
MIM: 605336
HGNC: 16980
Ensembl: ENSG00000116785

Variants:

dbSNP: 10878
ClinVar: 10878
TCGA: ENSG00000116785
COSMIC: CFHR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116785ENST00000367425Q02985
ENSG00000116785ENST00000367427Q6NSD3
ENSG00000116785ENST00000391985Q02985
ENSG00000116785ENST00000471440Q6NSD3
ENSG00000116785ENST00000617219A0A087WYK9

Expression (GTEx)

0
50
100
150
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Regulation of Complement cascadeREACTOMER-HSA-977606

References

Pubmed IDYearTitleCitations
385241372024Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.0
385241372024Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.0
370323532023The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.2
370323532023The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.2
347965672022High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.1
358528622022The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma.5
360075252022Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.2
360910342022Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.4
367935472022CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.5
347965672022High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.1
358528622022The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma.5
360075252022Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.2
360910342022Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.4
367935472022CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.5
348199352021Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells.10

Citation

Dessen P

CFHR3 (complement factor H related 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61772