• Gene id: 8325

Gene Summary

• Gene Symbol: FZD8   Gene   UCSC   Ensembl
• Aliases: FZ-8, hFZ8
• Gene name: frizzled class receptor 8
• Alternate names: frizzled-8, frizzled 8, seven transmembrane spanning receptor, frizzled family receptor 8, frizzled homolog 8,
• Gene location: 10p11.21 (35641433: 35638248)     Exons: 1     NC_000010.11
• Gene summary(Entrez): This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are couple
• OMIM: 606146

Protein Summary

• Protein general information: Q9H461  
  • Name: Frizzled 8 (Fz 8) (hFz8)
  • Length: 694  
  • Mass: 73300
  • Tissue specificity: Most abundant in fetal kidney, followed by brain and lung. In adult tissues, expressed in kidney, heart, pancreas and skeletal muscle.
• Sequence:

  MEWGYLLEVTSLLAALALLQRSSGAAAASAKELACQEITVPLCKGIGYNYTYMPNQFNHDTQDEAGLEVHQFWPL
  VEIQCSPDLKFFLCSMYTPICLEDYKKPLPPCRSVCERAKAGCAPLMRQYGFAWPDRMRCDRLPEQGNPDTLCMD
  YNRTDLTTAAPSPPRRLPPPPPGEQPPSGSGHGRPPGARPPHRGGGRGGGGGDAAAPPARGGGGGGKARPPGGGA
  APCEPGCQCRAPMVSVSSERHPLYNRVKTGQIANCALPCHNPFFSQDERAFTVFWIGLWSVLCFVSTFATVSTFL
  IDMERFKYPERPIIFLSACYLFVSVGYLVRLVAGHEKVACSGGAPGAGGAGGAGGAAAGAGAAGAGAGGPGGRGE
  YEELGAVEQHVRYETTGPALCTVVFLLVYFFGMASSIWWVILSLTWFLAAGMKWGNEAIAGYSQYFHLAAWLVPS
  VKSIAVLALSSVDGDPVAGICYVGNQSLDNLRGFVLAPLVIYLFIGTMFLLAGFVSLFRIRSVIKQQDGPTKTHK
  LEKLMIRLGLFTVLYTVPAAVVVACLFYEQHNRPRWEATHNCPCLRDLQPDQARRPDYAVFMLKYFMCLVVGITS
  GVWVWSGKTLESWRSLCTRCCWASKGAAVGGGAGATAAGGGGGPGGGGGGGPGGGGGPGGGGGSLYSDVSTGLTW
  RSGTASSVSYPKQMPLSQV

• Structural information:
  • Protein Domains: (30..15-)
    (/note="FZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00090"-)
  • Interpro: IPR015526  IPR000539  IPR020067  IPR036790  IPR041776   IPR017981  
  • Prosite: PS50038 PS50261
  • CDD: cd07461
  • PDB: 5UN5 5UN6 6NDZ
  • PDBsum: 5UN5 5UN6 6NDZ
  • STRING: ENSP00000363826
• Other Databases: GeneCards:  FZD8  Malacards:  FZD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060070	canonical Wnt signaling pathway	IMP	biological process
GO:0042813	Wnt-activated receptor activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042813	Wnt-activated receptor activity	IDA	molecular function
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0042813	Wnt-activated receptor activity	IEA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0043507	positive regulation of JUN kinase activity	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:1990851	Wnt-Frizzled-LRP5/6 complex	IEA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0030182	neuron differentiation	ISS	biological process
GO:0042813	Wnt-activated receptor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05165	Human papillomavirus infection
hsa05205	Proteoglycans in cancer
hsa04310	Wnt signaling pathway
hsa04150	mTOR signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa04916	Melanogenesis
hsa05217	Basal cell carcinoma

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881