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Protein

Pleckstrin homology-like domain family A member 2

Gene

PHLDA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

Miscellaneous

The PHLDA2 locus is imprinted. Loss of imprinting results in overexpression. Imprinting is dependent on RNAi machinery.

GO - Biological processi

  • apoptotic process Source: ProtInc

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology-like domain family A member 2
Alternative name(s):
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
Short name:
p17-BWR1C
Gene namesi
Name:PHLDA2
Synonyms:BWR1C, HLDA2, IPL, TSSC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000181649.5
HGNCiHGNC:12385 PHLDA2
MIMi602131 gene
neXtProtiNX_Q53GA4

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi7262
OpenTargetsiENSG00000181649
PharmGKBiPA37053

Polymorphism and mutation databases

BioMutaiPHLDA2
DMDMi84029394

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539001 – 152Pleckstrin homology-like domain family A member 2Add BLAST152

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphoserineCombined sources1
Modified residuei42PhosphoserineCombined sources1
Modified residuei141PhosphoserineCombined sources1
Modified residuei144PhosphoserineCombined sources1
Modified residuei151PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ53GA4
MaxQBiQ53GA4
PaxDbiQ53GA4
PeptideAtlasiQ53GA4
PRIDEiQ53GA4
ProteomicsDBi62476

PTM databases

iPTMnetiQ53GA4
PhosphoSitePlusiQ53GA4

Expressioni

Tissue specificityi

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.5 Publications

Inductioni

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/TP53.2 Publications

Gene expression databases

BgeeiENSG00000181649 Expressed in 186 organ(s), highest expression level in placenta
CleanExiHS_PHLDA2
GenevisibleiQ53GA4 HS

Organism-specific databases

HPAiHPA003994

Interactioni

Protein-protein interaction databases

BioGridi113113, 5 interactors
IntActiQ53GA4, 5 interactors
STRINGi9606.ENSP00000319231

Structurei

3D structure databases

ProteinModelPortaliQ53GA4
SMRiQ53GA4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 99PHAdd BLAST93

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi126 – 133Poly-Ala8

Domaini

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).By similarity

Sequence similaritiesi

Belongs to the PHLDA2 family.Curated

Phylogenomic databases

eggNOGiENOG410IZC3 Eukaryota
ENOG4111IXF LUCA
GeneTreeiENSGT00440000039564
HOGENOMiHOG000115528
HOVERGENiHBG052730
InParanoidiQ53GA4
OMAiKKVDCVE
OrthoDBiEOG091G0RST
PhylomeDBiQ53GA4
TreeFamiTF332320

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
SMARTiView protein in SMART
SM00233 PH, 1 hit

Sequencei

Sequence statusi: Complete.

Q53GA4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKSPDEVLRE GELEKRSDSL FQLWKKKRGV LTSDRLSLFP ASPRARPKEL
60 70 80 90 100
RFHSILKVDC VERTGKYVYF TIVTTDHKEI DFRCAGESCW NAAIALALID
110 120 130 140 150
FQNRRALQDF RSRQERTAPA APAEDAVAAA AAAPSEPSEP SRPSPQPKPR

TP
Length:152
Mass (Da):17,092
Last modified:December 20, 2005 - v2
Checksum:i3A1168CBB859FC3B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24W → R in BAD96747 (Ref. 5) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019953 mRNA Translation: AAC51912.1
AF001294 mRNA Translation: AAB86680.1
AF035444 mRNA Translation: AAC17458.1
CR407664 mRNA Translation: CAG28592.1
AK223027 mRNA Translation: BAD96747.1
BC005034 mRNA Translation: AAH05034.1
CCDSiCCDS7741.1
RefSeqiNP_003302.1, NM_003311.3
UniGeneiHs.154036

Genome annotation databases

EnsembliENST00000314222; ENSP00000319231; ENSG00000181649
ENST00000618418; ENSP00000483602; ENSG00000274538
ENST00000645523; ENSP00000495265; ENSG00000181649
GeneIDi7262
KEGGihsa:7262
UCSCiuc001lxa.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019953 mRNA Translation: AAC51912.1
AF001294 mRNA Translation: AAB86680.1
AF035444 mRNA Translation: AAC17458.1
CR407664 mRNA Translation: CAG28592.1
AK223027 mRNA Translation: BAD96747.1
BC005034 mRNA Translation: AAH05034.1
CCDSiCCDS7741.1
RefSeqiNP_003302.1, NM_003311.3
UniGeneiHs.154036

3D structure databases

ProteinModelPortaliQ53GA4
SMRiQ53GA4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113113, 5 interactors
IntActiQ53GA4, 5 interactors
STRINGi9606.ENSP00000319231

PTM databases

iPTMnetiQ53GA4
PhosphoSitePlusiQ53GA4

Polymorphism and mutation databases

BioMutaiPHLDA2
DMDMi84029394

Proteomic databases

EPDiQ53GA4
MaxQBiQ53GA4
PaxDbiQ53GA4
PeptideAtlasiQ53GA4
PRIDEiQ53GA4
ProteomicsDBi62476

Protocols and materials databases

DNASUi7262
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314222; ENSP00000319231; ENSG00000181649
ENST00000618418; ENSP00000483602; ENSG00000274538
ENST00000645523; ENSP00000495265; ENSG00000181649
GeneIDi7262
KEGGihsa:7262
UCSCiuc001lxa.2 human

Organism-specific databases

CTDi7262
DisGeNETi7262
EuPathDBiHostDB:ENSG00000181649.5
GeneCardsiPHLDA2
HGNCiHGNC:12385 PHLDA2
HPAiHPA003994
MIMi602131 gene
neXtProtiNX_Q53GA4
OpenTargetsiENSG00000181649
PharmGKBiPA37053
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZC3 Eukaryota
ENOG4111IXF LUCA
GeneTreeiENSGT00440000039564
HOGENOMiHOG000115528
HOVERGENiHBG052730
InParanoidiQ53GA4
OMAiKKVDCVE
OrthoDBiEOG091G0RST
PhylomeDBiQ53GA4
TreeFamiTF332320

Miscellaneous databases

GeneWikiiPHLDA2
GenomeRNAii7262
PROiPR:Q53GA4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181649 Expressed in 186 organ(s), highest expression level in placenta
CleanExiHS_PHLDA2
GenevisibleiQ53GA4 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
SMARTiView protein in SMART
SM00233 PH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPHLA2_HUMAN
AccessioniPrimary (citable) accession number: Q53GA4
Secondary accession number(s): O00496
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: December 20, 2005
Last modified: November 7, 2018
This is version 110 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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