Human Gene SFRP2 (uc003inv.1)
  Description: Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.
RefSeq Summary (NM_003013): This gene encodes 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. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:154,701,742-154,710,228 Size: 8,487 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr4:154,702,603-154,709,987 Size: 7,385 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:154,701,742-154,710,228)mRNA (may differ from genome)Protein (295 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SFRP2_HUMAN
DESCRIPTION: RecName: Full=Secreted frizzled-related protein 2; Short=FRP-2; Short=sFRP-2; AltName: Full=Secreted apoptosis-related protein 1; Short=SARP-1; Flags: Precursor;
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. SFRP2 may be important for eye retinal development and for myogenesis.
SUBCELLULAR LOCATION: Secreted (By similarity).
TISSUE SPECIFICITY: Expressed in adipose tissue, heart, brain, skeletal muscle, pancreas, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in adipose tissue, small intestine and colon.
DOMAIN: The FZ domain is involved in binding with Wnt ligands (By similarity).
SIMILARITY: Belongs to the secreted frizzled-related protein (sFRP) family.
SIMILARITY: Contains 1 FZ (frizzled) domain.
SIMILARITY: Contains 1 NTR domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SFRP2
CDC HuGE Published Literature: SFRP2
Positive Disease Associations: Albuminuria , Apolipoproteins C , Body Mass Index , Electrocardiography
Related Studies:
  1. Albuminuria
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
  2. Apolipoproteins C
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Body Mass Index
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: SFRP2
Diseases sorted by gene-association score: esophageal basaloid squamous cell carcinoma (5), colorectal cancer (2), retinitis pigmentosa (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 104.46 RPKM in Breast - Mammary Tissue
Total median expression: 980.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -110.50241-0.459 Picture PostScript Text
3' UTR -213.80861-0.248 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015526 - Frizzled/SFRP
IPR020067 - Frizzled_dom
IPR001134 - Netrin_domain
IPR018933 - Netrin_module_non-TIMP
IPR026558 - SFRP2
IPR008993 - TIMP-like_OB-fold

Pfam Domains:
PF01392 - Fz domain
PF01759 - UNC-6/NTR/C345C module

SCOP Domains:
63501 - Frizzled cysteine-rich domain
50242 - TIMP-like

ModBase Predicted Comparative 3D Structure on Q96HF1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001968 fibronectin binding
GO:0004930 G-protein coupled receptor activity
GO:0005178 integrin binding
GO:0008047 enzyme activator activity
GO:0017147 Wnt-protein binding
GO:0042813 Wnt-activated receptor activity
GO:0048018 receptor agonist activity
GO:0061133 endopeptidase activator activity

Biological Process:
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001756 somitogenesis
GO:0001843 neural tube closure
GO:0002063 chondrocyte development
GO:0003151 outflow tract morphogenesis
GO:0003214 cardiac left ventricle morphogenesis
GO:0006915 apoptotic process
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0007584 response to nutrient
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0008584 male gonad development
GO:0009952 anterior/posterior pattern specification
GO:0010469 regulation of receptor activity
GO:0010629 negative regulation of gene expression
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0010950 positive regulation of endopeptidase activity
GO:0010975 regulation of neuron projection development
GO:0016055 Wnt signaling pathway
GO:0021915 neural tube development
GO:0030111 regulation of Wnt signaling pathway
GO:0030154 cell differentiation
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030199 collagen fibril organization
GO:0030307 positive regulation of cell growth
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0030514 negative regulation of BMP signaling pathway
GO:0031668 cellular response to extracellular stimulus
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0033630 positive regulation of cell adhesion mediated by integrin
GO:0035567 non-canonical Wnt signaling pathway
GO:0036342 post-anal tail morphogenesis
GO:0042127 regulation of cell proliferation
GO:0042493 response to drug
GO:0042662 negative regulation of mesodermal cell fate specification
GO:0042733 embryonic digit morphogenesis
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043508 negative regulation of JUN kinase activity
GO:0045600 positive regulation of fat cell differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045766 positive regulation of angiogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046546 development of primary male sexual characteristics
GO:0048546 digestive tract morphogenesis
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation
GO:0051216 cartilage development
GO:0060028 convergent extension involved in axis elongation
GO:0060349 bone morphogenesis
GO:0061056 sclerotome development
GO:0061185 negative regulation of dermatome development
GO:0071425 hematopoietic stem cell proliferation
GO:0071481 cellular response to X-ray
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090175 regulation of establishment of planar polarity
GO:0090179 planar cell polarity pathway involved in neural tube closure
GO:0090244 Wnt signaling pathway involved in somitogenesis
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
GO:1904956 regulation of midbrain dopaminergic neuron differentiation
GO:2000035 regulation of stem cell division
GO:2000041 negative regulation of planar cell polarity pathway involved in axis elongation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0016021 integral component of membrane
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LF206154 - JP 2014500723-A/13657: Polycomb-Associated Non-Coding RNAs.
AF311912 - Homo sapiens pancreas tumor-related protein (FKSG12) mRNA, complete cds.
AK075372 - Homo sapiens cDNA PSEC0060 fis, clone NT2RP2000638, highly similar to Secreted frizzled-related protein 2 precursor.
AK093922 - Homo sapiens cDNA FLJ36603 fis, clone TRACH2015180, highly similar to Secreted frizzled-related protein 2 precursor.
JD163071 - Sequence 144095 from Patent EP1572962.
JD310932 - Sequence 291956 from Patent EP1572962.
JD184531 - Sequence 165555 from Patent EP1572962.
LF351996 - JP 2014500723-A/159499: Polycomb-Associated Non-Coding RNAs.
BC008666 - Homo sapiens secreted frizzled-related protein 2, mRNA (cDNA clone MGC:9395 IMAGE:3874262), complete cds.
AY359001 - Homo sapiens clone DNA50920 sFRP-2 (UNQ361) mRNA, complete cds.
LF351995 - JP 2014500723-A/159498: Polycomb-Associated Non-Coding RNAs.
JD514261 - Sequence 495285 from Patent EP1572962.
JD200645 - Sequence 181669 from Patent EP1572962.
JD508756 - Sequence 489780 from Patent EP1572962.
JD145996 - Sequence 127020 from Patent EP1572962.
JD521064 - Sequence 502088 from Patent EP1572962.
JD150196 - Sequence 131220 from Patent EP1572962.
JD325122 - Sequence 306146 from Patent EP1572962.
JD252904 - Sequence 233928 from Patent EP1572962.
HM005483 - Homo sapiens clone HTL-T-170 testicular tissue protein Li 170 mRNA, complete cds.
JD064805 - Sequence 45829 from Patent EP1572962.
JD134477 - Sequence 115501 from Patent EP1572962.
JD375816 - Sequence 356840 from Patent EP1572962.
KJ897541 - Synthetic construct Homo sapiens clone ccsbBroadEn_06935 SFRP2 gene, encodes complete protein.
AB464189 - Synthetic construct DNA, clone: pF1KB6354, Homo sapiens SFRP2 gene for secreted frizzled-related protein 2, without stop codon, in Flexi system.
LF351994 - JP 2014500723-A/159497: Polycomb-Associated Non-Coding RNAs.
AF017986 - Homo sapiens secreted apoptosis related protein 1 (SFRP2) mRNA, partial cds.
LF211898 - JP 2014500723-A/19401: Polycomb-Associated Non-Coding RNAs.
JD520561 - Sequence 501585 from Patent EP1572962.
MA587573 - JP 2018138019-A/159499: Polycomb-Associated Non-Coding RNAs.
MA587572 - JP 2018138019-A/159498: Polycomb-Associated Non-Coding RNAs.
MA587571 - JP 2018138019-A/159497: Polycomb-Associated Non-Coding RNAs.
MA441731 - JP 2018138019-A/13657: Polycomb-Associated Non-Coding RNAs.
MA447475 - JP 2018138019-A/19401: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q96HF1 (Reactome details) participates in the following event(s):

R-HSA-3772441 sFRP binds WNT3A and inhibits WNT:FZD binding
R-HSA-3772470 Negative regulation of TCF-dependent signaling by WNT ligand antagonists
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQR2, FKSG12, FRP2, NM_003013, NP_003004, O14778, Q96HF1, Q9HAP5, SARP1, SFRP2_HUMAN, UNQ361/PRO697
UCSC ID: uc003inv.1
RefSeq Accession: NM_003013
Protein: Q96HF1 (aka SFRP2_HUMAN)
CCDS: CCDS34082.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003013.2
exon count: 3CDS single in 3' UTR: no RNA size: 2005
ORF size: 888CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1833.00frame shift in genome: no % Coverage: 99.25
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.