Gene Gene information from NCBI Gene database.
Entrez ID 7855
Gene name Frizzled class receptor 5
Gene symbol FZD5
Synonyms (NCBI Gene)
C2orf31HFZ5MCOPCB11
Chromosome 2
Chromosome location 2q33.3
Summary Members of the `frizzled` gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
483
miRTarBase ID miRNA Experiments Reference
MIRT030330 hsa-miR-26b-5p Microarray 19088304
MIRT030625 hsa-miR-24-3p Sequencing 20371350
MIRT045455 hsa-miR-149-5p CLASH 23622248
MIRT523606 hsa-miR-374b-5p HITS-CLIP 21572407
MIRT523605 hsa-miR-369-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
83
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000578 Process Embryonic axis specification IDA 12121999
GO:0001525 Process Angiogenesis IEA
GO:0001540 Function Amyloid-beta binding IPI 18234671
GO:0001540 Function Amyloid-beta binding TAS 24449494
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601723 4043 ENSG00000163251
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13467
Protein name Frizzled-5 (Fz-5) (hFz5) (FzE5)
Protein function Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 signaling (By similarity)
PDB 5URY , 5URZ , 6O39 , 6WW2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 33 141 Fz domain Domain
PF01534 Frizzled 226 537 Frizzled/Smoothened family membrane region Family
Sequence
Sequence length 585
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Ca2+ pathway
Asymmetric localization of PCP proteins
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
RNF mutants show enhanced WNT signaling and proliferation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital ocular coloboma Likely pathogenic; Pathogenic rs2091986259, rs2091987023, rs2091988799 RCV001089479
RCV001089478
RCV001089477
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia/coloboma 11 Pathogenic; Likely pathogenic rs2470339440, rs2470339052, rs750162817, rs2470337831, rs2470337909, rs2091986259 RCV003881723
RCV003881724
RCV003881726
RCV003881727
RCV003881728
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT EYELID Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOBOMA OF CHOROID AND RETINA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 30622113
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 29533772
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27869803
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31534019
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 20376066 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 10688908, 11315916 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31534019
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 30841855, 35328735 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25209439, 27323393, 27859262, 28215225
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25209439, 36001375 Associate
★☆☆☆☆
Found in Text Mining only