SCARF2: Scavenger Receptor Class F Member 2
A scavenger receptor involved in neural crest cell migration and associated with Van den Ende-Gupta syndrome
Gene Information Card
| Symbol | SCARF2 |
|---|---|
| Full Name | Scavenger Receptor Class F Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 91179 ncbi.nlm.nih.gov/gene/91179 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q96GP6 |
| OMIM ID | 613619 |
| HGNC ID | 19869 |
| Aliases | SREC-II, SRECRP-1, SREPCR |
Description
SCARF2 encodes scavenger receptor class F member 2, a transmembrane protein that functions as a scavenger receptor for modified low-density lipoproteins. It is involved in neural crest cell migration and development. Loss-of-function mutations in SCARF2 cause Van den Ende-Gupta syndrome (VDEGS), characterized by skeletal abnormalities, distinctive facial features, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Van den Ende-Gupta syndrome | Loss-of-function mutations impair neural crest cell migration, leading to craniofacial and skeletal defects | OMIM #613619; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lung | 15.1 | Medium |
| Liver | 6.2 | Low |
| Kidney | 10.5 | Medium |
| Placenta | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| HepG2 | 7.1 | Low expression |
| K562 | 5.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.1045_1046del (p.Leu349Valfs*2) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SCARF2 mutations are loss-of-function, leading to Van den Ende-Gupta syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • scavenger receptor activity | • protein binding |
| • integral component of membrane | • receptor-mediated endocytosis |
| • neural crest cell migration |
Pathways
• Scavenger receptor pathway
• Neural crest development
Protein Summary
SCARF2 is a 799-amino acid transmembrane glycoprotein with multiple EGF-like domains and a C-terminal cytoplasmic tail. It acts as a scavenger receptor for modified lipoproteins and mediates endocytosis. The protein is essential for neural crest cell migration during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCARF2 Knockout HEK293 Cell Line | EDJ-KQ1974 | Human | 91179 | Details Get a Quote |
| SCARF2 Knockout HCT 116 Cell Line | EDJ-KQ21943 | Human | 91179 | Details Get a Quote |
| SCARF2 Knockout HeLa Cell Line | EDJ-KQ57794 | Human | 91179 | Details Get a Quote |
| SCARF2 Knockout A-549 Cell Line | EDJ-KQ66289 | Human | 91179 | Details Get a Quote |
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