Identity
HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
NSR1,SREC-II,SREC2,SRECRP-1,VDEGS
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: 91179
MIM: 613619
HGNC: 19869
Ensembl: ENSG00000244486
Variants:
dbSNP: 91179
ClinVar: 91179
TCGA: ENSG00000244486
COSMIC: SCARF2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000244486 | ENST00000622235 | Q96GP6 |
| ENSG00000244486 | ENST00000623402 | Q96GP6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35224863 | 2022 | Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome. | 1 |
| 35224863 | 2022 | Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome. | 1 |
| 33783941 | 2021 | Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. | 2 |
| 33783941 | 2021 | Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. | 2 |
| 24478002 | 2014 | Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. | 6 |
| 24478002 | 2014 | Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. | 6 |
| 20887961 | 2010 | Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. | 23 |
| 20887961 | 2010 | Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. | 23 |
| 12154095 | 2002 | SREC-II, a new member of the scavenger receptor type F family, trans-interacts with SREC-I through its extracellular domain. | 31 |
| 12154095 | 2002 | SREC-II, a new member of the scavenger receptor type F family, trans-interacts with SREC-I through its extracellular domain. | 31 |
Citation
Dessen P
SCARF2 (scavenger receptor class F member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73004/scarf2-(scavenger-receptor-class-f-member-2)
