CFHR4 (complement factor H related 4)

2014-11-01  

Identity

HGNC
CFHR4
LOCATION
1q31.3
LOCUSID
10877
ALIAS
CFHL4,FHR-4,FHR4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10877
MIM: 605337
HGNC: 16979
Ensembl: ENSG00000134365

Variants:

dbSNP: 10877
ClinVar: 10877
TCGA: ENSG00000134365
COSMIC: CFHR4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134365ENST00000251424Q92496
ENSG00000134365ENST00000367416Q92496
ENSG00000134365ENST00000367418A0A0C4DH21
ENSG00000134365ENST00000608469Q92496

Expression (GTEx)

0
5
10
15
20
25
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162316739Maculopapular ExanthemaDiseaseClinicalAnnotationassociatedPD
PA450947phenytoinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
382000102024Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.1
382000102024Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.1
358124162022Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma.5
367935472022CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.5
358124162022Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma.5
367935472022CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.5
320341292020Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.50
320341292020Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.50
292882292018Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.13
293173552018Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection.12
293980832018Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.41
292882292018Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.13
293173552018Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection.12
293980832018Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.41
271963232016Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.10

Citation

Dessen P

CFHR4 (complement factor H related 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61773/tumors-explorer/js/lib/bootstrap.min.js