Human Gene PHLDA2 (ENST00000314222.5) from GENCODE V44
Description: Homo sapiens pleckstrin homology like domain family A member 2 (PHLDA2), mRNA. (from RefSeq NM_003311) RefSeq Summary (NM_003311): This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]. Gencode Transcript: ENST00000314222.5 Gencode Gene: ENSG00000181649.8 Transcript (Including UTRs) Position: hg38 chr11:2,928,273-2,929,420 Size: 1,148 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr11:2,928,906-2,929,364 Size: 459 Coding Exon Count: 1
ID:PHLA2_HUMAN DESCRIPTION: RecName: Full=Pleckstrin homology-like domain family A member 2; AltName: Full=Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein; AltName: Full=Imprinted in placenta and liver protein; AltName: Full=Tumor-suppressing STF cDNA 3 protein; AltName: Full=Tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein; AltName: Full=p17-Beckwith-Wiedemann region 1 C; Short=p17-BWR1C; FUNCTION: Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). TISSUE SPECIFICITY: Expressed in placenta and adult prostate gland. In placenta, it is present in all cells of the villous cytotrophoblast. The protein is absent in cells from hydatidiform moles. Hydatidiform mole is a gestation characterized by abnormal development of both fetus and trophoblast. The majority of hydatidiform moles are associated with an excess of paternal to maternal genomes and are likely to result from the abnormal expression of imprinted genes (at protein level). Expressed at low levels in adult liver and lung, and fetal liver. Expressed in adult brain and neuroblastoma, medullablastoma and glioblastoma cell lines. INDUCTION: Maternal PHLDA2 allele is activated, while paternal Phlda2 is repressed due to genomic imprinting. Down-regulated by hypoxia. Although highly similar to PHLDA3 protein, it is not regulated by p53/TP53. DOMAIN: The PH domain binds phosphoinositides with a broad specificity. It may compete with the PH domain of some other proteins, thereby interfering with their binding to phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (By similarity). MISCELLANEOUS: The PHLDA2 locus is imprinted. Loss of imprinting results in overexpression. Imprinting is dependent on RNAi machinery. SIMILARITY: Belongs to the PHLDA2 family. SIMILARITY: Contains 1 PH domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q53GA4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001890 placenta development GO:0006915 apoptotic process GO:0009887 animal organ morphogenesis GO:0010468 regulation of gene expression GO:0030334 regulation of cell migration GO:0045995 regulation of embryonic development GO:0060721 regulation of spongiotrophoblast cell proliferation GO:0070873 regulation of glycogen metabolic process GO:1903547 regulation of growth hormone activity
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