FLVCR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | FLVCR2 , C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, feline leukemia virus subgroup C cellular receptor family member 2, SLC49A2, FLVCR heme transporter 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 610865; MGI: 2384974; HomoloGene: 9840; GeneCards: FLVCR2; OMA:FLVCR2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Feline leukemia virus subgroup C cellular receptor family, member 2 is a protein that in humans is encoded by the FLVCR2 gene. [5]
This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1 (FLVCR1), the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.
ETV6 protein is a transcription factor that in humans is encoded by the ETV6 gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues. However, its gene, ETV6 frequently suffers various mutations that lead to an array of potentially lethal cancers, i.e., ETV6 is a clinically significant proto-oncogene in that it can fuse with other genes to drive the development and/or progression of certain cancers. However, ETV6 is also an anti-oncogene or tumor suppressor gene in that mutations in it that encode for a truncated and therefore inactive protein are also associated with certain types of cancers.
Platelet-derived growth factor receptor beta is a protein that in humans is encoded by the PDGFRB gene. Mutations in PDGFRB are mainly associated with the clonal eosinophilia class of malignancies.
GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. It regulates many genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming, lymphatic system-forming, and other tissue-forming stem cells. GATA2 is encoded by the GATA2 gene, a gene which often suffers germline and somatic mutations which lead to a wide range of familial and sporadic diseases, respectively. The gene and its product are targets for the treatment of these diseases.
Proto-oncogene tyrosine-protein kinase Src, also known as proto-oncogene c-Src, or simply c-Src, is a non-receptor tyrosine kinase protein that in humans is encoded by the SRC gene. It belongs to a family of Src family kinases and is similar to the v-Src gene of Rous sarcoma virus. It includes an SH2 domain, an SH3 domain and a tyrosine kinase domain. Two transcript variants encoding the same protein have been found for this gene.
Thyroid hormone receptor alpha (TR-alpha) also known as nuclear receptor subfamily 1, group A, member 1 (NR1A1), is a nuclear receptor protein that in humans is encoded by the THRA gene.
Actin, cytoplasmic 2, or gamma-actin is a protein that in humans is encoded by the ACTG1 gene. Gamma-actin is widely expressed in cellular cytoskeletons of many tissues; in adult striated muscle cells, gamma-actin is localized to Z-discs and costamere structures, which are responsible for force transduction and transmission in muscle cells. Mutations in ACTG1 have been associated with nonsyndromic hearing loss and Baraitser-Winter syndrome, as well as susceptibility of adolescent patients to vincristine toxicity.
Probable G-protein coupled receptor 101 is a protein that in humans is encoded by the GPR101 gene.
Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog, also known as FGR, is a protein which in humans is encoded by the FGR gene.
Tyrosine-protein kinase Fes/Fps also known as proto-oncogene c-Fes/Fps is an enzyme that in humans is encoded by the FES gene. FES was originally cloned as a retroviral oncogene from feline (v-FES) and avian (v-FPS) sarcomas. This triggered the subsequent identification and cloning of the cellular FES (c-FES) genes in birds and mammals.
The thrombopoietin receptor also known as the myeloproliferative leukemia protein or CD110 is a protein that in humans is encoded by the MPL oncogene.
5'-AMP-activated protein kinase subunit gamma-2 is an enzyme that in humans is encoded by the PRKAG2 gene.
Poliovirus receptor-related 1 (PVRL1), also known as nectin-1 and CD111 (formerly herpesvirus entry mediator C, HVEC) is a human protein of the immunoglobulin superfamily (IgSF), also considered a member of the nectins. It is a membrane protein with three extracellular immunoglobulin domains, a single transmembrane helix and a cytoplasmic tail. The protein can mediate Ca2+-independent cellular adhesion further characterizing it as IgSF cell adhesion molecule (IgSF CAM).
Cell division protein kinase 8 is an enzyme that in humans is encoded by the CDK8 gene.
DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.
Sodium-dependent phosphate transporter 1 is a protein that in humans is encoded by the SLC20A1 gene.
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.
Feline leukemia virus subgroup C receptor-related protein 1 is a protein that in humans is encoded by the FLVCR1 gene (SLC49A1).
Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the SLC20A2 gene.
Dedicator of cytokinesis protein 8 (Dock8) is a large protein encoded in the human by the DOCK8 gene, involved in intracellular signalling networks. It is a member of the DOCK-C subfamily of the DOCK family of guanine nucleotide exchange factors (GEFs) which function as activators of small G-proteins.
A heme transporter is a protein that delivers heme to the various parts of a biological cell that require it.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.