CFHR4 (complement factor H related 4)

2014-11-01 Affiliation

Identity

HGNC

CFHR4

LOCATION

1q31.3

LOCUSID

10877

ALIAS

CFHL4,FHR-4,FHR4

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134365	ENST00000251424	Q92496
ENSG00000134365	ENST00000367416	Q92496
ENSG00000134365	ENST00000367418	A0A0C4DH21
ENSG00000134365	ENST00000608469	Q92496

Expression (GTEx)

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 ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA162316739	Maculopapular Exanthema	Disease	ClinicalAnnotation	associated		PD
PA450947	phenytoin	Chemical	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
19861685	2010	Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.	99
17438673	2006	Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.	87
21637784	2011	Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.	62
25979655	2015	Factor H-related proteins determine complement-activating surfaces.	39
18541031	2008	The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.	32
22518841	2012	Factor H-related protein 4 activates complement by serving as a platform for the assembly of alternative pathway C3 convertase via its interaction with C3b protein.	31
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
20042240	2010	Molecular basis of C-reactive protein binding and modulation of complement activation by factor H-related protein 4.	20
19084272	2009	Human complement factor H-related protein 4 binds and recruits native pentameric C-reactive protein to necrotic cells.	18
20059470	2010	Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.	18

Citation

Dessen P

CFHR4 (complement factor H related 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61773/cfhr4