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Aliases for SFRP4 Gene

Aliases for SFRP4 Gene

  • Secreted Frizzled Related Protein 4 2 3 5
  • Secreted Frizzled-Related Protein 4 2 3
  • Frizzled Protein, Human Endometrium 3 4
  • SFRP-4 3 4
  • FRPHE 3 4
  • Secreted Frizzled-Related Protein 4; Secreted Frizzled-Related Protein 4 3
  • FRP-4 3
  • PYL 3

External Ids for SFRP4 Gene

Previous GeneCards Identifiers for SFRP4 Gene

  • GC07M037591
  • GC07M037686
  • GC07M037652
  • GC07M037718

Summaries for SFRP4 Gene

Entrez Gene Summary for SFRP4 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SFRP4 Gene

SFRP4 (Secreted Frizzled Related Protein 4) is a Protein Coding gene. Diseases associated with SFRP4 include Pyle Disease and Osteomalacia. Among its related pathways are Adipogenesis and Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds. GO annotations related to this gene include G-protein coupled receptor activity and Wnt-protein binding. An important paralog of this gene is FRZB.

UniProtKB/Swiss-Prot for SFRP4 Gene

  • 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 (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (PubMed:12952927).

Gene Wiki entry for SFRP4 Gene

Additional gene information for SFRP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFRP4 Gene

Genomics for SFRP4 Gene

Regulatory Elements for SFRP4 Gene

Enhancers for SFRP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H037941 1.3 Ensembl ENCODE 15.6 +82.1 82053 4 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 TCF12 SFRP4 EPDR1 TRGC1 LOC105375236 NME8
GH07H037902 1 Ensembl ENCODE 19.2 +123.4 123420 1 CTCF BACH1 ZNF644 RAD21 RARA TEAD3 GATA3 ZNF316 FOXK2 NFE2 SFRP4 EPDR1 NME8 LOC105375236
GH07H038215 1.4 Ensembl ENCODE dbSUPER 10 -193.6 -193622 8 ELF3 PKNOX1 FOXA2 RB1 ARNT ZSCAN4 BATF RAD21 ZNF143 RCOR1 STARD3NL TRGC2 SFRP4
GH07H037986 1.1 Ensembl ENCODE dbSUPER 11.2 +38.3 38287 2 BMI1 NR3C1 DPF2 BATF ZIC2 IKZF1 NFE2 IKZF2 SFRP4 EPDR1 LOC105375236 NME8
GH07H037974 0.9 ENCODE 10.8 +51.5 51522 0 TBP PKNOX1 ATF1 TBL1XR1 ARNT CHAMP1 TCF12 GATA2 EGR1 CREM SFRP4 STARD3NL EPDR1 LOC105375236 NME8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SFRP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SFRP4 Gene

Chromosome:
7
Start:
37,905,932 bp from pter
End:
38,025,695 bp from pter
Size:
119,764 bases
Orientation:
Minus strand

Genomic View for SFRP4 Gene

Genes around SFRP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFRP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFRP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFRP4 Gene

Proteins for SFRP4 Gene

  • Protein details for SFRP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6FHJ7-SFRP4_HUMAN
    Recommended name:
    Secreted frizzled-related protein 4
    Protein Accession:
    Q6FHJ7
    Secondary Accessions:
    • B4DYC1
    • O14877
    • Q05BG7
    • Q1ZYW2
    • Q4G124
    • Q6FHM0
    • Q6PD64

    Protein attributes for SFRP4 Gene

    Size:
    346 amino acids
    Molecular mass:
    39827 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG63683.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SFRP4 Gene

Post-translational modifications for SFRP4 Gene

  • Glycosylation at Asn38, Asn68, isoforms=116, Asn194, and Asn240
  • Modification sites at PhosphoSitePlus

Other Protein References for SFRP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SFRP4 Gene

Domains & Families for SFRP4 Gene

Gene Families for SFRP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for SFRP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6FHJ7

UniProtKB/Swiss-Prot:

SFRP4_HUMAN :
  • The FZ domain is involved in binding with Wnt ligands.
  • Belongs to the secreted frizzled-related protein (sFRP) family.
Domain:
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the secreted frizzled-related protein (sFRP) family.
genes like me logo Genes that share domains with SFRP4: view

Function for SFRP4 Gene

Molecular function for SFRP4 Gene

GENATLAS Biochemistry:
Drosophila frizzled polarity homolog,secreted related protein 4,mouse sfrp 4 homolog,likely involved in WNT binding and signal transduction
UniProtKB/Swiss-Prot 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 (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (PubMed:12952927).
UniProtKB/Swiss-Prot Induction:
Increased levels in failing myocardium. Up-regulated in several tumor types including ostomalacia-associated tumors and endometrial and breast carcinomas.

Phenotypes From GWAS Catalog for SFRP4 Gene

Gene Ontology (GO) - Molecular Function for SFRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IBA --
GO:0005515 protein binding IPI 15607035
GO:0017147 Wnt-protein binding NAS,IDA 24431302
GO:0042813 Wnt-activated receptor activity IBA --
genes like me logo Genes that share ontologies with SFRP4: view
genes like me logo Genes that share phenotypes with SFRP4: view

Human Phenotype Ontology for SFRP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SFRP4 Gene

MGI Knock Outs for SFRP4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SFRP4

CRISPR Products

miRNA for SFRP4 Gene

miRTarBase miRNAs that target SFRP4

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SFRP4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SFRP4 Gene

Localization for SFRP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFRP4 Gene

Secreted. Note=Cytoplasmic in ovarian tumor cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFRP4 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SFRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 14760084
GO:0005634 nucleus IDA 18938133
GO:0005737 cytoplasm IDA 11793365
GO:0009986 cell surface IDA 14760084
genes like me logo Genes that share ontologies with SFRP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFRP4 Gene

Pathways & Interactions for SFRP4 Gene

genes like me logo Genes that share pathways with SFRP4: view

Pathways by source for SFRP4 Gene

Gene Ontology (GO) - Biological Process for SFRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 positive regulation of receptor internalization IDA 16151791
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0008285 negative regulation of cell proliferation IMP 14760084
GO:0009725 response to hormone NAS 10211996
genes like me logo Genes that share ontologies with SFRP4: view

No data available for SIGNOR curated interactions for SFRP4 Gene

Drugs & Compounds for SFRP4 Gene

(5) Drugs for SFRP4 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclothiazide Approved Pharma Positive, Allosteric regulator, Target, inhibitor 0
Perindopril Approved Pharma Target, inhibitor ACE inhibitor, Angiotensin-converting enzyme (ACE) inhibitor 49

(2) Additional Compounds for SFRP4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SFRP4: view

Transcripts for SFRP4 Gene

mRNA/cDNA for SFRP4 Gene

Unigene Clusters for SFRP4 Gene

Secreted frizzled-related protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SFRP4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SFRP4 Gene

No ASD Table

Relevant External Links for SFRP4 Gene

GeneLoc Exon Structure for
SFRP4
ECgene alternative splicing isoforms for
SFRP4

Expression for SFRP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SFRP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SFRP4 Gene

This gene is overexpressed in Cervix - Endocervix (x10.8), Nerve - Tibial (x6.4), Uterus (x5.8), and Cervix - Ectocervix (x5.3).

Protein differential expression in normal tissues from HIPED for SFRP4 Gene

This gene is overexpressed in Cervix (32.2), Pancreas (18.8), and Breast (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SFRP4 Gene



NURSA nuclear receptor signaling pathways regulating expression of SFRP4 Gene:

SFRP4

SOURCE GeneReport for Unigene cluster for SFRP4 Gene:

Hs.658169

mRNA Expression by UniProt/SwissProt for SFRP4 Gene:

Q6FHJ7-SFRP4_HUMAN
Tissue specificity: Expressed in mesenchymal cells. Highly expressed in the stroma of proliferative endometrium. Expressed in cardiomyocytes. Shows moderate to strong expression in ovarian tumors with expression increasing as the tumor stage increases. In ovarian tumors, expression levels are inversely correlated with expression of CTNNB1 (at protein level).

Evidence on tissue expression from TISSUES for SFRP4 Gene

  • Nervous system(4.5)
  • Lung(2.3)
  • Muscle(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with SFRP4: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFRP4 Gene

Orthologs for SFRP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SFRP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFRP4 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia SFRP4 33 34
  • 91.81 (n)
cow
(Bos Taurus)
Mammalia SFRP4 33 34
  • 91.71 (n)
rat
(Rattus norvegicus)
Mammalia Sfrp4 33
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Sfrp4 33 16 34
  • 88.31 (n)
oppossum
(Monodelphis domestica)
Mammalia SFRP4 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFRP4 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFRP4 33 34
  • 73.23 (n)
lizard
(Anolis carolinensis)
Reptilia SFRP4 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfrp4 33
  • 69.04 (n)
zebrafish
(Danio rerio)
Actinopterygii FP102169.1 34
  • 19 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta fz4 34
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-1 34
  • 12 (a)
OneToMany
Species where no ortholog for SFRP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SFRP4 Gene

ENSEMBL:
Gene Tree for SFRP4 (if available)
TreeFam:
Gene Tree for SFRP4 (if available)

Paralogs for SFRP4 Gene

Paralogs for SFRP4 Gene

(1) SIMAP similar genes for SFRP4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SFRP4: view

Variants for SFRP4 Gene

Sequence variations from dbSNP and Humsavar for SFRP4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs755007671 Pathogenic 37,912,216(+) AGTTC(A/G)AGGGA reference, stop-gained
rs879253778 Pathogenic 37,914,412(-) TGATG(-/GTACAGG)AAAGG reference, frameshift-variant
rs879255603 Pathogenic 37,914,399(-) TCTTG(-/G)ATGTT reference, frameshift-variant
rs1000040121 -- 37,917,595(+) GCACC(A/G)CAATC upstream-variant-2KB
rs1000217330 -- 37,913,135(+) ACTAA(A/G)TAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SFRP4 Gene

Variant ID Type Subtype PubMed ID
nsv8074 CNV loss 18304495

Variation tolerance for SFRP4 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SFRP4 Gene

Human Gene Mutation Database (HGMD)
SFRP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFRP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFRP4 Gene

Disorders for SFRP4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SFRP4 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyle disease
  • metaphyseal dysplasia
osteomalacia
  • adult rickets
hypophosphatemic rickets, autosomal dominant
  • autosomal dominant hypophosphatemic rickets
hypophosphatemia
oncogenic osteomalacia
  • oo
- elite association - COSMIC cancer census association via MalaCards
Search SFRP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SFRP4_HUMAN
  • Pyle disease (PYL) [MIM:265900]: A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures. {ECO:0000269 PubMed:27355534}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SFRP4

Genetic Association Database (GAD)
SFRP4
Human Genome Epidemiology (HuGE) Navigator
SFRP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFRP4
genes like me logo Genes that share disorders with SFRP4: view

No data available for Genatlas for SFRP4 Gene

Publications for SFRP4 Gene

  1. Differential expression of frpHE: a novel human stromal protein of the secreted frizzled gene family, during the endometrial cycle and malignancy. (PMID: 10211996) Abu-Jawdeh G … Kocher O (Laboratory investigation; a journal of technical methods and pathology 1999) 2 3 4 22 60
  2. Wnt antagonist gene polymorphisms and renal cancer. (PMID: 19562778) Hirata H … Dahiya R (Cancer 2009) 3 22 45 60
  3. Expression of secreted frizzled-related protein 4 (SFRP4) in primary serous ovarian tumours. (PMID: 19480240) Drake J … Dharmarajan A (European journal of gynaecological oncology 2009) 3 4 22 60
  4. Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. (PMID: 12952927) Berndt T … Kumar R (The Journal of clinical investigation 2003) 3 4 22 60
  5. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. (PMID: 27355534) Simsek Kiper PO … Baron R (The New England journal of medicine 2016) 3 4 60

Products for SFRP4 Gene

Sources for SFRP4 Gene

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