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FLASH GENE

Symbol

CFHR5

contributors: mct - updated : 27-06-2018

HGNC name	complement factor H-related 5
HGNC id	24668

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C3G3 nephropathy due to CFHR5 deficiency HUS3 hemolytic-uremic syndrome, atypical 3
Location	1q31.3      Physical location : 196.946.666 - 196.978.801
Synonym name	factor H-related protein 5
Synonym symbol(s)	FHR-5, FHR5, FLJ10549, CFHL5, CFHL5D, MGC133240

DNA

TYPE	functioning gene
STRUCTURE	34.70 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030787 10 - 2814 NP_110414 - 569 - 2020 32928961

EXPRESSION

Type	restricted

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         Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine sushi domains (SCR repeat),
	nine short complement regulator (SCR) domains
	one immunoglobulin-like c2-type domain

HOMOLOGY

intraspecies

homolog to HF1,HF2

Homologene

FAMILY

complement factor H (CFH) family

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	having a role in the development of CNS functions involved in locomotor activity
	possesses cofactor activity and has been proposed to play a role in complement regulation in the glomerulus

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of immune deposits in kidney with sclerotic lesions from different causes
	CFHR1, CFHR2, and CFHR5 homodimerize, with CFHR1 and CFHR2 forming heterodimers as well, and equilibrate quickly in plasma

INTERACTION

DNA

RNA

small molecule

protein

FHR5 antagonizes the main circulating CFH, resulting in the deregulation of complement activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HUS3 , C3G3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional fusion       CFHR5-CFHR2 fusion gene in familial C3 glomerulonephritis

Susceptibility

to membranoproliferative glomerulonephritis type II(dense deposit disease) to IgAN (IgA nephropathy)

Variant & Polymorphism SNP	increasing the risk of membranoproliferative glomerulonephritis type II(dense deposit disease)
	contribution of rare variants of the CFHR5 gene to IgAN susceptibility

Candidate gene
Marker	circulating CFHR5 level is an independent risk factor for IgAN progression
Therapy target

ANIMAL & CELL MODELS