InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FLVCR2

Summary

InnateDB Protein

IDBP-601432.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLVCR2

Protein Name

Feline leukemia virus subgroup C receptor-related protein 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000443439

InnateDB Gene

IDBG-13068 (FLVCR2)

Protein Structure

UniProt Annotation

Function

Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism. {ECO:0000269PubMed:20823265}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Proliferative vasculopathy and hydranencephaly- hydrocephaly syndrome (PVHH) [MIM:225790]: A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. {ECO:0000269PubMed:20206334, ECO:0000269PubMed:20518025, ECO:0000269PubMed:20690116}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015232	heme transporter activity
GO:0020037	heme binding

Biological Process

GO:0015886	heme transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain
IPR024671 Autophagy-related protein 22-like

PFAM

PF07690
PF11700

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UPI3

PhosphoSite