Identity
HGNC
LOCATION
13q13.3
LOCUSID
ALIAS
CRYPTOP,FRASRS2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 341640
MIM: 608945
HGNC: 25396
Ensembl: ENSG00000150893
Variants:
dbSNP: 341640
ClinVar: 341640
TCGA: ENSG00000150893
COSMIC: FREM2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000150893 | ENST00000280481 | Q5SZK8 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35640836 | 2022 | Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis. | 0 |
| 35640836 | 2022 | Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis. | 0 |
| 32643034 | 2021 | Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. | 8 |
| 32643034 | 2021 | Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. | 8 |
| 30802441 | 2019 | Loss-of-function mutations in FREM2 disrupt eye morphogenesis. | 8 |
| 30802441 | 2019 | Loss-of-function mutations in FREM2 disrupt eye morphogenesis. | 8 |
| 29618029 | 2018 | The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. | 10 |
| 29688405 | 2018 | A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. | 7 |
| 29734672 | 2018 | Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates. | 9 |
| 29618029 | 2018 | The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. | 10 |
| 29688405 | 2018 | A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. | 7 |
| 29734672 | 2018 | Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates. | 9 |
| 24700879 | 2014 | Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. | 47 |
| 24700879 | 2014 | Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. | 47 |
| 21900877 | 2012 | Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. | 36 |
Citation
Dessen P
FREM2 (FRAS1 related extracellular matrix 2)
Atlas Genet Cytogenet Oncol Haematol. 2012-08-01
Online version: http://atlasgeneticsoncology.org/gene/52844/frem2
