PHLA2_HUMAN   Q53GA4


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UniProt:Q53GA4

Recommended name:Pleckstrin homology-like domain family A member 2

EC number:

Alternative names:(Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein) (Imprinted in placenta and liver protein) (Tumor-suppressing STF cDNA 3 protein) (Tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein) (p17-Beckwith-Wiedemann region 1 C) (p17-BWR1C)

Cleaved into:

GeneID:7262

Gene names  (primary ):PHLDA2

Gene names  (synonym ):BWR1C HLDA2 IPL TSSC3

Gene names  (ORF ):

Length:152

Mass:17092

Sequence:MKSPDEVLREGELEKRSDSLFQLWKKKRGVLTSDRLSLFPASPRARPKELRFHSILKVDCVERTGKYVYFTIVTTDHKEIDFRCAGESCWNAAIALALIDFQNRRALQDFRSRQERTAPAAPAEDAVAAAAAAPSEPSEPSRPSPQPKPRTP

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. {ECO:0000269|PubMed:10594239, ECO:0000269|PubMed:10749982, ECO:0000269|PubMed:13129680, ECO:0000269|PubMed:15457853, ECO:0000269|PubMed:9328465}.

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. {ECO:0000269|PubMed:15314611, ECO:0000269|PubMed:16584773}.

Developmental stage:

Protein families:PHLDA2 family


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