Human Gene FZD6 (ENST00000522566.5) from GENCODE V44
Description: Homo sapiens frizzled class receptor 6 (FZD6), transcript variant 2, mRNA. (from RefSeq NM_001164615) RefSeq Summary (NM_001164615): This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]. Gencode Transcript: ENST00000522566.5 Gencode Gene: ENSG00000164930.12 Transcript (Including UTRs) Position: hg38 chr8:103,298,433-103,332,817 Size: 34,385 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr8:103,300,108-103,331,509 Size: 31,402 Coding Exon Count: 6
ID:FZD6_HUMAN DESCRIPTION: RecName: Full=Frizzled-6; Short=Fz-6; Short=hFz6; Flags: Precursor; FUNCTION: Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By similarity). TISSUE SPECIFICITY: Detected in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, thymus, prostate, testis, ovary, small intestine and colon. In the fetus, expressed in brain, lung, liver and kidney. DOMAIN: Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway (By similarity). DOMAIN: The FZ domain is involved in binding with Wnt ligands (By similarity). PTM: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity). DISEASE: Defects in FZD6 are the cause of nail disorder non- syndromic congenital type 10 (NDNC10) [MIM:614157]. NDNC10 is a nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. DISEASE: Note=Rare non-synonymous variants in FZD6 may contribute to neural tube defects, congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. SIMILARITY: Belongs to the G-protein coupled receptor Fz/Smo family. SIMILARITY: Contains 1 FZ (frizzled) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01534 - Frizzled/Smoothened family membrane region PF01392 - Fz domain
ModBase Predicted Comparative 3D Structure on O60353
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.