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Aliases for PHLDA2 Gene

Aliases for PHLDA2 Gene

  • Pleckstrin Homology Like Domain Family A Member 2 2 3 5
  • Tumor-Suppressing Subchromosomal Transferable Fragment Candidate Gene 3 Protein 3 4
  • Beckwith-Wiedemann Syndrome Chromosomal Region 1 Candidate Gene C Protein 3 4
  • Tumor Suppressing Subtransferable Candidate 3 2 3
  • Imprinted In Placenta And Liver Protein 3 4
  • P17-Beckwith-Wiedemann Region 1 C 3 4
  • P17-BWR1C 3 4
  • TSSC3 3 4
  • BWR1C 3 4
  • HLDA2 3 4
  • IPL 3 4
  • Tumor Suppressing Subchromosomal Transferable Fragment CDNA 3 3
  • Pleckstrin Homology-Like Domain, Family A, Member 2 2
  • Pleckstrin Homology-Like Domain Family A Member 2 3
  • Tumor-Suppressing STF CDNA 3 Protein 4
  • P17-Beckwith-Wiedemann Region 1C 3
  • Tumor-Supressing STF CDNA 3 3
  • BRW1C 3

External Ids for PHLDA2 Gene

Previous HGNC Symbols for PHLDA2 Gene

  • TSSC3

Previous GeneCards Identifiers for PHLDA2 Gene

  • GC11M002908
  • GC11M002913
  • GC11M002906
  • GC11M002737
  • GC11M002949

Summaries for PHLDA2 Gene

Entrez Gene Summary for PHLDA2 Gene

  • 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]

GeneCards Summary for PHLDA2 Gene

PHLDA2 (Pleckstrin Homology Like Domain Family A Member 2) is a Protein Coding gene. Diseases associated with PHLDA2 include Beckwith-Wiedemann Syndrome and Hydatidiform Mole, Recurrent, 1. An important paralog of this gene is PHLDA1.

UniProtKB/Swiss-Prot for PHLDA2 Gene

  • 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).

Gene Wiki entry for PHLDA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHLDA2 Gene

Genomics for PHLDA2 Gene

Regulatory Elements for PHLDA2 Gene

Enhancers for PHLDA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F002950 1 Ensembl ENCODE 17.1 -22.4 -22419 2.2 HLF JUN MAFG JUND POLR2A ATF3 ZNF24 NFE2 FOS NAP1L4 ENSG00000183562 PHLDA2 SLC22A18 RNU1-91P CARS PIR57698 SNORA54 GC11M002963 GC11M002964
GH11F002881 0.4 ENCODE 11 +45.1 45149 5.7 ATF1 CREB3L1 SIN3A DMAP1 ZNF2 YY1 ZNF121 GLIS2 ZNF207 KDM4B PHLDA2 TRPM5 KCNQ1OT1 RNU1-91P SLC22A18 CDKN1C ENSG00000274740
GH11F002537 0.7 ENCODE 10.5 +390.3 390284 2.9 SOX5 SOX13 BHLHE40 CEBPB TEAD3 MIER3 IKZF1 GABPB1 NR2F6 SMAD4 CDKN1C SLC22A18AS SLC22A18 PHLDA2 NAP1L4 SNORA54 PIR42060 GC11P002540
GH11F003000 1 FANTOM5 ENCODE 10.3 -71.6 -71573 2.1 HDGF ARID4B SIN3A RAD21 ETV6 EGR2 ZNF263 ZNF654 CEBPB REST NAP1L4 CARS-AS1 CARS SNORA54 RNU1-91P ENSG00000224513 PHLDA2 SLC22A18 MRGPRG-AS1 MRGPRG
GH11F002997 0.5 ENCODE 10.3 -68.8 -68838 0.6 ZNF121 RFX1 SP7 CARS-AS1 CARS NAP1L4 SNORA54 RNU1-91P ENSG00000224513 PHLDA2 SLC22A18 MRGPRG MRGPRG-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PHLDA2 on UCSC Golden Path with GeneCards custom track

Promoters for PHLDA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000557399 55 3201 PKNOX1 ARID4B SIN3A ZNF2 ZNF143 FOS DEK JUNB REST SREBF1

Genomic Location for PHLDA2 Gene

Chromosome:
11
Start:
2,928,273 bp from pter
End:
2,929,455 bp from pter
Size:
1,183 bases
Orientation:
Minus strand

Genomic View for PHLDA2 Gene

Genes around PHLDA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHLDA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHLDA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHLDA2 Gene

Proteins for PHLDA2 Gene

  • Protein details for PHLDA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GA4-PHLA2_HUMAN
    Recommended name:
    Pleckstrin homology-like domain family A member 2
    Protein Accession:
    Q53GA4
    Secondary Accessions:
    • O00496

    Protein attributes for PHLDA2 Gene

    Size:
    152 amino acids
    Molecular mass:
    17092 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The PHLDA2 locus is imprinted. Loss of imprinting results in overexpression. Imprinting is dependent on RNAi machinery.

neXtProt entry for PHLDA2 Gene

Post-translational modifications for PHLDA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHLDA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHLDA2 Gene

Domains & Families for PHLDA2 Gene

Gene Families for PHLDA2 Gene

Protein Domains for PHLDA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PHLDA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53GA4

UniProtKB/Swiss-Prot:

PHLA2_HUMAN :
  • 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).
  • Belongs to the PHLDA2 family.
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).
  • Contains 1 PH domain.
Family:
  • Belongs to the PHLDA2 family.
genes like me logo Genes that share domains with PHLDA2: view

Function for PHLDA2 Gene

Molecular function for PHLDA2 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with PHLDA2: view

Animal Models for PHLDA2 Gene

MGI Knock Outs for PHLDA2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PHLDA2 Gene

Localization for PHLDA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHLDA2 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHLDA2 Gene COMPARTMENTS Subcellular localization image for PHLDA2 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PHLDA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHLDA2: view

Pathways & Interactions for PHLDA2 Gene

SuperPathways for PHLDA2 Gene

No Data Available

Interacting Proteins for PHLDA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000319231%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000319231 Q53GA4-PHLA2_HUMAN for PHLDA2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PHLDA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001890 placenta development IEA --
GO:0006915 apoptotic process TAS 9328465
GO:0009887 animal organ morphogenesis IEA --
GO:0010468 regulation of gene expression IEA --
GO:0030334 regulation of cell migration IEA --
genes like me logo Genes that share ontologies with PHLDA2: view

No data available for Pathways by source and SIGNOR curated interactions for PHLDA2 Gene

Transcripts for PHLDA2 Gene

mRNA/cDNA for PHLDA2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(136) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PHLDA2 Gene

Pleckstrin homology-like domain, family A, member 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHLDA2 Gene

No ASD Table

Relevant External Links for PHLDA2 Gene

GeneLoc Exon Structure for
PHLDA2
ECgene alternative splicing isoforms for
PHLDA2

Expression for PHLDA2 Gene

mRNA expression in normal human tissues for PHLDA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHLDA2 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.6) and Minor Salivary Gland (x5.3).

Protein differential expression in normal tissues from HIPED for PHLDA2 Gene

This gene is overexpressed in Lung (36.3), Breast (13.8), Placenta (9.4), and Bone (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHLDA2 Gene



Protein tissue co-expression partners for PHLDA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHLDA2 Gene:

PHLDA2

SOURCE GeneReport for Unigene cluster for PHLDA2 Gene:

Hs.154036

mRNA Expression by UniProt/SwissProt for PHLDA2 Gene:

Q53GA4-PHLA2_HUMAN
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.
genes like me logo Genes that share expression patterns with PHLDA2: view

Primer Products

Orthologs for PHLDA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PHLDA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHLDA2 34 35
  • 96.71 (n)
cow
(Bos Taurus)
Mammalia PHLDA2 34 35
  • 89.08 (n)
rat
(Rattus norvegicus)
Mammalia Phlda2 34
  • 83.03 (n)
mouse
(Mus musculus)
Mammalia Phlda2 34 16 35
  • 82.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHLDA2 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHLDA2 34 35
  • 79.13 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia phlda2 34
  • 64.58 (n)
Str.15512 34
zebrafish
(Danio rerio)
Actinopterygii phlda2 34 35
  • 65.44 (n)
Dr.13050 34
Species where no ortholog for PHLDA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHLDA2 Gene

ENSEMBL:
Gene Tree for PHLDA2 (if available)
TreeFam:
Gene Tree for PHLDA2 (if available)

Paralogs for PHLDA2 Gene

Paralogs for PHLDA2 Gene

(1) SIMAP similar genes for PHLDA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PHLDA2: view

Variants for PHLDA2 Gene

Sequence variations from dbSNP and Humsavar for PHLDA2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1056819 -- 2,928,631(-) AGGAC(A/G)TGGCC utr-variant-3-prime
rs1056832 -- 2,928,338(-) CAGTC(A/C)TGCGG utr-variant-3-prime
rs10582 -- 2,928,625(-) TGGCC(G/T)GCGCT utr-variant-3-prime
rs111907359 -- 2,927,926(+) CTCCT(A/G)CCCCA downstream-variant-500B
rs114499124 -- 2,930,473(+) GAGCC(G/T)GCCGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PHLDA2 Gene

Variant ID Type Subtype PubMed ID
esv2759795 CNV gain 17122850
nsv553121 CNV loss 21841781
nsv832050 CNV loss 17160897

Variation tolerance for PHLDA2 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHLDA2 Gene

Human Gene Mutation Database (HGMD)
PHLDA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHLDA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHLDA2 Gene

Disorders for PHLDA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PHLDA2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • wiedemann-beckwith syndrome
hydatidiform mole, recurrent, 1
  • hydatidiform mole, recurrent, 2
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PHLDA2

Genetic Association Database (GAD)
PHLDA2
Human Genome Epidemiology (HuGE) Navigator
PHLDA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHLDA2
genes like me logo Genes that share disorders with PHLDA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHLDA2 Gene

Publications for PHLDA2 Gene

  1. Hypoxia regulates the expression of PHLDA2 in primary term human trophoblasts. (PMID: 16584773) Kim H.-S. … Sadovsky Y. (Placenta 2007) 3 4 22 64
  2. The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. (PMID: 13129680) Saxena A. … Thaker H. (Placenta 2003) 3 4 22 64
  3. Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumors. (PMID: 10749982) Mueller S. … Zumkeller W. (Hum. Mol. Genet. 2000) 3 4 22 64
  4. A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: tissue-specific expression, chromosomal location, and parental imprinting. (PMID: 10594239) Frank D. … Tycko B. (Mamm. Genome 1999) 3 4 22 64
  5. Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. (PMID: 9520460) Schwienbacher C. … Negrini M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 22 64

Products for PHLDA2 Gene

Sources for PHLDA2 Gene

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