Gene Symbol |
PHLDA2
|
Entrez Gene |
7262
|
Alt Symbol |
BRW1C, BWR1C, HLDA2, IPL, TSSC3
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
pleckstrin homology-like domain, family A, member 2
|
Other Description |
beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein|imprinted in placenta and liver protein|p17-BWR1C|p17-Beckwith-Wiedemann region 1 C|p17-Beckwith-Wiedemann region 1C|pleckstrin homology-like domain family A member 2|tumor suppressing subchromosomal transferable fragment cDNA 3|tumor suppressing subtransferable candidate 3|tumor-suppressing STF cDNA 3 protein|tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein|tumor-supressing STF cDNA 3
|
Swissprots |
O00496 Q53GA4
|
Accessions |
EAX02531 Q53GA4 AF001294 AAB86680 AF019953 AAC51912 AF035444 AAC17458 AI659266 AK223027 BAD96747 BC005034 AAH05034 CR407664 CAG28592 HQ448329 ADQ32809 NM_003311 NP_003302
|
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). {ECO:0000250}.
|
Subcellular Location |
Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
|
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}.
|