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FLASH GENE

Symbol

CFHR4

contributors: mct - updated : 15-09-2021

HGNC name	complement factor H-related 4
HGNC id	16979

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed FHR4A - splicing - 63 559 plasma, liver 1999 10622723 nine complement control protein (CCP) domains NM_006684 6 - 1322 NP_006675 - 331 - 1999 10622723 NM_001201550 10 - 2063 NP_001188479 - 578 - 1999 10622723 NM_001201551 10 - 2060 NP_001188480 - 577 - 1999 10622723

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 19 amino acid signal peptide
	four N-linked glycosylation sites
	five short consensus repeats (SCRs)
	five CCP (complement control protein) domains

conjugated

LipoP

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

factor H protein family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
text	secreted in plasma

basic FUNCTION	lipid transporter activity
	enhancing the cofactor activity of factor H in C3b inactivation
	FHR4 is a key molecular player contributing to complement dysregulation in Age-related macular degeneration (AMD)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to C3b and C3d

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in Age-related macular degeneration (AMD)

Susceptibility

to AMD (age-related macular degeneration)

Variant & Polymorphism other	a rare deletion encompassing CFHR1 and CFHR4 as being protective against AMD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS