FLVCR2
Feline Leukemia Virus Subgroup C Receptor-Related Protein 2
Gene Information Card
| Symbol | FLVCR2 |
|---|---|
| Full Name | Feline Leukemia Virus Subgroup C Receptor-Related Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 55640 ncbi.nlm.nih.gov/gene/55640 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9UPI3 |
| OMIM ID | 610865 |
| HGNC ID | 20105 |
| Aliases | C14orf58, FLVCRL, MFSD7C, SLC49A2 |
Description
FLVCR2 encodes a member of the major facilitator superfamily of transporters. The protein functions as a calcium and heme transporter, playing a role in cellular calcium homeostasis and heme export. Mutations in this gene are associated with Fowler syndrome (proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fowler syndrome (proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome) | Loss-of-function mutations impair calcium and heme transport, leading to abnormal vascular development and brain malformations. | OMIM #225790; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Liver | 4.1 | Low |
| Heart | 3.8 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | High expression |
| HeLa | 9.7 | Moderate expression |
| HepG2 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1124G>A (p.Arg375Gln) | Missense | Rare | Associated with Fowler syndrome; disrupts transporter function |
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Associated with Fowler syndrome; loss of function |
| c.1666C>T (p.Arg556Cys) | Missense | Rare | Associated with Fowler syndrome; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in FLVCR2 (e.g., p.Arg375Gln, p.Arg489Trp, p.Arg556Cys) cause loss of calcium and heme transport activity, leading to Fowler 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)
| • calcium ion transmembrane transport | • heme transport |
| • calcium ion binding | • heme binding |
| • plasma membrane | • integral component of membrane |
Pathways
• Heme transport
• Calcium signaling
Protein Summary
FLVCR2 is a 557-amino acid multi-pass membrane protein belonging to the major facilitator superfamily. It functions as a calcium and heme transporter, localized to the plasma membrane. The protein is essential for normal vascular development and brain morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLVCR2 Knockout HEK293 Cell Line | EDJ-KQ12110 | Human | 55640 | Details Get a Quote |
| FLVCR2 Knockout A-549 Cell Line | EDJ-KQ40790 | Human | 55640 | Details Get a Quote |
| FLVCR2 Knockout HCT 116 Cell Line | EDJ-KQ40791 | Human | 55640 | Details Get a Quote |
| FLVCR2 Knockout HeLa Cell Line | EDJ-KQ40792 | Human | 55640 | Details Get a Quote |
| FLVCR2 Knockout Huh-7 Cell Line | EDC07833 | Human | 55640 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
