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FLASH GENE

Symbol

MFRP

contributors: mct - updated : 14-01-2011

HGNC name	membrane frizzled-related protein
HGNC id	18121

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MPRF posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen NNO2 nanophthalmos 2
Location	11q23.3      Physical location : 119.209.651 - 119.217.383
Synonym name	complement C1q tumor necrosis factor-related protein 5 precursor
Synonym symbol(s)	FLJ30570, C1QTNF5, rd6, MGC32938, DKFZp586B0621

DNA

TYPE	functioning gene
STRUCTURE	7.73 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_031433 15 - 3927 NP_113621 - 579 - 2008 15976030

EXPRESSION

Type	restricted

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 Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	CRD : frizzled type cystein rich domain, essential for WNT binding and signaling
	two MFRP domains
	two CUB domains
	one C1q domain
	one collagen-like domain

HOMOLOGY

interspecies

ortholog to murine Mfrp

Homologene

FAMILY

frizzled-related protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
text	type II transmembrane protein

basic FUNCTION	acting as a possible regulator of the WNT signaling pathway
	playing a role in regulating axial length of the eye

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to WNT maybe

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NNO2 , MPRF

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS