Gene Gene information from NCBI Gene database.
Entrez ID 6424
Gene name Secreted frizzled related protein 4
Gene symbol SFRP4
Synonyms (NCBI Gene)
FRP-4FRPHEFRZB-2PYLsFRP-4
Chromosome 7
Chromosome location 7p14.1
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs755007671 G>A Pathogenic Stop gained, coding sequence variant
rs879253778 CTGTACC>- Pathogenic Coding sequence variant, frameshift variant
rs879255603 ->C Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
152
miRTarBase ID miRNA Experiments Reference
MIRT030345 hsa-miR-26b-5p Microarray 19088304
MIRT733229 hsa-miR-181a-5p Immunocytochemistry (ICC)Luciferase reporter assayqRT-PCR 33574092
MIRT1341964 hsa-miR-1256 CLIP-seq
MIRT1341965 hsa-miR-1297 CLIP-seq
MIRT1341966 hsa-miR-183 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18945944
GO:0001501 Process Skeletal system development IEA
GO:0002092 Process Positive regulation of receptor internalization IDA 16151791
GO:0005515 Function Protein binding IPI 15607035, 32296183, 32814053
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606570 10778 ENSG00000106483
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6FHJ7
Protein name Secreted frizzled-related protein 4 (sFRP-4) (Frizzled protein, human endometrium) (FrpHE)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 24 133 Fz domain Domain
PF01759 NTR 188 289 UNC-6/NTR/C345C module Domain
Tissue specificity 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
Sequence
Sequence length 346
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pyle metaphyseal dysplasia Pathogenic; Likely pathogenic rs879255603, rs755007671, rs879253778, rs1344808304, rs758308395 RCV000234979
RCV000234991
RCV000234974
RCV001271113
RCV001271112
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23039795
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19730886, 24925057
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 25165185
★☆☆☆☆
Found in Text Mining only
Androgen Insensitivity Syndrome Androgen insensitivity syndrome Pubtator 31671693 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28977937, 30906634
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 17476687
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29037197
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31101982
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29037197
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 29037197 Associate
★☆☆☆☆
Found in Text Mining only