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FLASH GENE

Symbol

FRZB

contributors: MCT - updated : 14-12-2018

HGNC name	frizzled-related protein
HGNC id	3959

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	33.50 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001463 6 - 2775 NP_001454 - 325 - 1997 9118218

EXPRESSION

Type

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 Cardiovascular vessel       predominantly Homo sapiens Nervous brain         Reproductive female system placenta       Urinary kidney       highly Homo sapiens Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens not specific chondroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	cartilage of long bones appendicular skeleton, epiphysis, muscle, kidney, pancreas, heart

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	a frizzled-like cysteine-rich domain and a conserved hydrophilic carboxyterminal domain
	one NTR domain
	25 AA signal peptide

HOMOLOGY

interspecies	homolog to Drosophila frizzled polarity
	homolog to rattus Frzb (91.33 pc)
	homolog to murine Frzb (91.95 pc)

Homologene

FAMILY

SFRP family of WNT inhibitors family

CATEGORY

tumor suppressor , signaling

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	likely involved in WNT binding and signal transduction
	may be involved in morphogenesis of the skeleton
	may have a tumor suppressive potential in osteogenic sarcoma (OGS)
	secreted Wnt antagonist, exhibiting potent antitumor activity against prostate cancer, an epithelial type of malignancy
	may play an important role in metastatic renal cancer
	its expression promotes cell growth, invasion, and inhibition of apoptosis in renal cancer cells
	with others SFRP family of WNT inhibitors members, function as novel tumor suppressor gene epigenetically silenced in medulloblastoma
	essential functions of BCL11A in neuronal morphogenesis and sensory wiring of the dorsal spinal cord and FRZB, a component of the WNT pathway, is a downstream acting molecule involved in this process
	SFRP1 and FRZB act as WNT signaling pathway antagonists and play an important role in embryonic development and carcinogenesis

CELLULAR PROCESS	cell life

PHYSIOLOGICAL PROCESS

development , ossification

text	bone development, maintenance

PATHWAY

metabolism

signaling

COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA

a component

INTERACTION

DNA

RNA

small molecule

protein

upstream regulator of VEGFA expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     osteogenic sarcoma (OGS) induced by silent expression of FRZB silent mechanism not yet known constitutional     --over   in failing ventricles and ventricular myocardium tumoral     --low   in malignant melanoma tumors as compared to normal/benign tissue constitutional     --low   of FRZB may contribute to the pathogenesis of IUGR placental dysfunction, whereas the loss of the protein may be involved in the development of human trophoblastic tumors

Susceptibility

to hip osteoarthritis in the female to atrioventricular septal defects

Variant & Polymorphism	Arg200Trp and Arg324Gly increasing the risk factor for primary hip osteoarthritis in the female

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     usefulness of FRZB in modulating MET signaling as a new treatment strategy for soft tissue sarcomas

ANIMAL & CELL MODELS