FRZB

frizzled related protein, the group of Secreted frizzled-related proteins

Basic information

Region (hg38): 2:182833275-182866637

Links

ENSG00000162998 ∙ NCBI:2487 ∙ OMIM:605083 ∙ HGNC:3959 ∙ Uniprot:Q92765 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FRZB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRZB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			21	1	2	24
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	22	5	3

Variants in FRZB

This is a list of pathogenic ClinVar variants found in the FRZB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-182834857-G-C		FRZB-related disorder • Osteoarthritis susceptibility 1	Benign; risk factor (Dec 03, 2019)
2-182834916-C-T		not specified	Uncertain significance (Nov 24, 2024)
2-182834921-A-G			Benign (Jul 01, 2024)
2-182834946-C-T		not specified	Uncertain significance (Oct 09, 2024)
2-182834955-A-G			Benign/Likely benign (Aug 01, 2023)
2-182837942-G-T			Likely benign (Jul 20, 2018)
2-182837962-C-T		not specified	Uncertain significance (May 24, 2024)
2-182837994-C-G		not specified	Uncertain significance (Jan 10, 2023)
2-182838415-C-T		not specified	Uncertain significance (Jun 11, 2021)
2-182838416-G-A		not specified	Uncertain significance (Feb 01, 2023)
2-182838419-C-T		not specified	Uncertain significance (Sep 16, 2021)
2-182838453-A-G		FRZB-related disorder	Likely benign (May 23, 2019)
2-182838454-T-C		not specified	Uncertain significance (Apr 23, 2024)
2-182838491-T-C		not specified	Uncertain significance (Feb 10, 2023)
2-182838499-T-C		not specified	Uncertain significance (May 04, 2023)
2-182838519-G-T		not specified	Uncertain significance (Apr 07, 2023)
2-182838545-C-T		not specified	Uncertain significance (Dec 04, 2024)
2-182838584-T-C		not specified	Uncertain significance (Nov 20, 2024)
2-182838593-C-T		not specified	Uncertain significance (Nov 07, 2024)
2-182838608-G-A		FRZB-related disorder • Osteoarthritis susceptibility 1	Benign; risk factor (Jun 08, 2024)
2-182838613-A-G		not specified	Uncertain significance (Aug 04, 2023)
2-182842492-T-C		not specified	Uncertain significance (Oct 17, 2024)
2-182842506-C-A		not specified	Uncertain significance (Sep 20, 2023)
2-182842514-T-C		not specified	Uncertain significance (Jun 05, 2023)
2-182866090-T-C		not specified	Uncertain significance (Nov 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FRZB	protein_coding	protein_coding	ENST00000295113	6	33889

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00108	0.956	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.949	156	193	0.808	0.0000106	2111
Missense in Polyphen		63	80.232	0.78522		905
Synonymous	-0.462	77	72.0	1.07	0.00000376	640
Loss of Function	1.79	7	14.3	0.490	6.70e-7	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000363	0.000362
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000214	0.000211
Middle Eastern	0.00	0.00
South Asian	0.0000981	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development.
• Disease: DISEASE: Osteoarthritis 1 (OS1) [MIM:165720]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. {ECO:0000269|PubMed:15210948}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: WNT-Core;Adipogenesis;Hepatitis C and Hepatocellular Carcinoma;Endochondral Ossification;Wnt Canonical;Wnt Mammals (Consensus)

Recessive Scores

• pRec: 0.224

Intolerance Scores

• loftool: 0.795
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.8

Haploinsufficiency Scores

• pHI: 0.247
• hipred: Y
• hipred_score: 0.605
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.876

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Frzb
• Phenotype: normal phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: frzb
• Affected structure: palate
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: skeletal system development;negative regulation of cell population proliferation;negative regulation of cell development;neural crest cell differentiation;negative regulation of Wnt signaling pathway;negative regulation of cell growth;non-canonical Wnt signaling pathway;positive regulation of apoptotic process;positive regulation of fat cell differentiation;convergent extension involved in organogenesis;canonical Wnt signaling pathway;negative regulation of cartilage development;somite development;negative regulation of hepatocyte differentiation;negative regulation of canonical Wnt signaling pathway;cochlea morphogenesis
• Cellular component: extracellular space;cytoplasm;membrane
• Molecular function: Wnt-protein binding