Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6424
Gene name Gene Name - the full gene name approved by the HGNC.
Secreted frizzled related protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SFRP4
Synonyms (NCBI Gene) Gene synonyms aliases
FRP-4, FRPHE, FRZB-2, PYL, sFRP-4
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT030345 hsa-miR-26b-5p Microarray 19088304
MIRT733229 hsa-miR-181a-5p Immunocytochemistry (ICC), Luciferase reporter assay, qRT-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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606570 10778 ENSG00000106483
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pyle Metaphyseal Dysplasia pyle metaphyseal dysplasia rs879255603, rs755007671, rs879253778 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Osteoporosis Osteoporosis N/A N/A GWAS
Pyle Disease Pyle disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19513747
Adenocarcinoma Mucinous Inhibit 23039795
Adenoma Associate 17131472, 21154739
Adenomyosis Associate 36532077, 38239300
Alopecia Stimulate 35007355
Androgen Insensitivity Syndrome Associate 31671693
Atherosclerosis Associate 29037197
Atrial Fibrillation Associate 36295481
Brain Neoplasms Associate 24406045
Breast Neoplasms Associate 22037257, 32990024