CFHR5 (complement factor H related 5)

2018-07-01  

Identity

HGNC
CFHR5
LOCATION
1q31.3
LOCUSID
81494
ALIAS
CFHL5,CFHR5D,FHR-5,FHR5

Other Information

Locus ID:

NCBI: 81494
MIM: 608593
HGNC: 24668
Ensembl: ENSG00000134389

Variants:

dbSNP: 81494
ClinVar: 81494
TCGA: ENSG00000134389
COSMIC: CFHR5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134389ENST00000256785Q9BXR6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

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
384186212024The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.0
385675992024Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.0
384186212024The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.0
385675992024Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.0
372865732023Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.5
372865732023Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.5
353920812022Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.7
353920812022Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.7
337535022021Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.11
342609472021Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.26
345632682021Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.15
345669772021FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.7
337535022021Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.11
342609472021Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.26
345632682021Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.15

Citation

Dessen P

CFHR5 (complement factor H related 5)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57387/cfhr5-(complement-factor-h-related-5)