SFRP4 (original) (raw)

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Protein-coding gene in the species Homo sapiens

SFRP4
Identifiers
Aliases SFRP4, FRP-4, FRPHE, sFRP-4, secreted frizzled related protein 4, PYL, FRZB-2
External IDs OMIM: 606570; MGI: 892010; HomoloGene: 2267; GeneCards: SFRP4; OMA:SFRP4 - orthologs
Gene location (Human)Chromosome 7 (human)Chr.Chromosome 7 (human)[1]Chromosome 7 (human)Genomic location for SFRP4Genomic location for SFRP4Band7p14.1Start37,905,932 bp[1]End38,025,695 bp[1]
Gene location (Mouse)Chromosome 13 (mouse)Chr.Chromosome 13 (mouse)[2]Chromosome 13 (mouse)Genomic location for SFRP4Genomic location for SFRP4Band13 A2|13 6.99 cMStart19,807,274 bp[2]End19,817,164 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright uterine tubecanal of the cervixectocervixvena cavatibial nervespinal gangliaAchilles tendonright ovaryleft ovarysmooth muscle tissueTop expressed ingastrulaanklesuperior surface of tonguedeciduasciatic nerveuterustibiofemoral jointlumbar spinal ganglionfemurbody of femurMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function protein binding Wnt-protein binding G protein-coupled receptor activity Wnt-activated receptor activity Cellular component cytoplasm extracellular region cell surface nucleus extracellular space integral component of membrane Biological process cell differentiation positive regulation of keratinocyte apoptotic process positive regulation of receptor internalization positive regulation of canonical Wnt signaling pathway negative regulation of Wnt signaling pathway phosphate ion homeostasis Wnt signaling pathway negative regulation of DNA-binding transcription factor activity multicellular organism development negative regulation of sodium-dependent phosphate transport positive regulation of gene expression positive regulation of apoptotic process response to hormone positive regulation of epidermal cell differentiation negative regulation of cell population proliferation regulation of BMP signaling pathway bone morphogenesis negative regulation of canonical Wnt signaling pathway negative regulation of non-canonical Wnt signaling pathway G protein-coupled receptor signaling pathway non-canonical Wnt signaling pathway canonical Wnt signaling pathway Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez642420379EnsemblENSG00000106483ENSMUSG00000021319UniProtQ6FHJ7Q9Z1N6RefSeq (mRNA)NM_003014NM_016687RefSeq (protein)NP_003005NP_057896Location (UCSC)Chr 7: 37.91 – 38.03 MbChr 13: 19.81 – 19.82 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Secreted frizzled-related protein 4 is a protein that in humans is encoded by the SFRP4 gene.[5][6]

Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression.[6]

Biallelic, recessive variants in the SFRP4 gene result in the genetic disorder of bone, Pyle disease,[7] that is characterized by a failure of long bone remodeling with increased fragility. The association between SFRP4 deficiency and Pyle disease has highlighted the importance of SFRP4 in the formation of the bone cortex, and of the importance of bone cortex for the mechanical stability of long bone elements.

SFRP4 is a hub gene in a Type 2 Diabetes-associated gene coexpression module in human islets, and reduces glucose-induced insulin secretion through decreased β-cell exocytosis. Expression and release of SFRP4 from islets is enhanced by interleukin-1β. SFRP4 is elevated in serum several years before clinical diagnosis of Type 2 Diabetes. Individuals who have above-average levels of SFRP4 in the blood are five times more likely to develop diabetes in the next few years than those with below-average levels.[8] SFRP4 concentration seems to correlate with obesity and systemic insulin resistance [9]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106483 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021319 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Abu-Jawdeh G, Comella N, Tomita Y, Brown LF, Tognazzi K, Sokol SY, Kocher O (April 1999). "Differential expression of frpHE: a novel human stromal protein of the secreted frizzled gene family, during the endometrial cycle and malignancy". Laboratory Investigation; A Journal of Technical Methods and Pathology. 79 (4): 439–447. PMID 10211996.
  6. ^ a b "Entrez Gene: SFRP4 secreted frizzled-related protein 4".
  7. ^ Kiper PO, Saito H, Gori F, Unger S, Hesse E, Yamana K, et al. (June 2016). "Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease". The New England Journal of Medicine. 374 (26): 2553–2562. doi:10.1056/nejmoa1509342. PMC 5070790. PMID 27355534.
  8. ^ Mahdi T, Hänzelmann S, Salehi A, Muhammed SJ, Reinbothe TM, Tang Y, et al. (November 2012). "Secreted frizzled-related protein 4 reduces insulin secretion and is overexpressed in type 2 diabetes". Cell Metabolism. 16 (5): 625–633. doi:10.1016/j.cmet.2012.10.009. PMID 23140642.
  9. ^ Hörbelt T., Knebel B., Fahlbusch P., Barbosa D., de Wiza D.H., Van de Velde F., Van Nieuwenhove Y., Lapauw B., Thoresen G.H., Al-Hasani H. The adipokine sFRP4 induces insulin resistance and lipogenesis in the liver. Biochim. Biophys. Acta. Mol. Basis Dis. 2019;1865:2671–2684. doi: 10.1016/j.bbadis.2019.07.008