PHLDA2 pleckstrin homology like domain family A member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHLDA2provided by HGNC
Official Full Name: pleckstrin homology like domain family A member 2provided by HGNC
Primary source: HGNC:HGNC:12385
See related: Ensembl:ENSG00000181649 MIM:602131; AllianceGenome:HGNC:12385
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IPL; BRW1C; BWR1C; HLDA2; TSSC3
Summary: 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]
Expression: Biased expression in placenta (RPKM 44.3), colon (RPKM 8.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2928273..2929420, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (3017370..3018517, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2949503..2950650, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FOSL1 transcriptionally regulates PHLDA2 to promote 5-FU resistance in colon cancer cells.
Title: FOSL1 transcriptionally regulates PHLDA2 to promote 5-FU resistance in colon cancer cells.
Diagnostic Utility of TSSC3 and RB1 Immunohistochemistry in Hydatidiform Mole.
Title: Diagnostic Utility of TSSC3 and RB1 Immunohistochemistry in Hydatidiform Mole.
Knockdown of PHLDA2 promotes apoptosis and autophagy of glioma cells through the AKT/mTOR pathway.
Title: Knockdown of PHLDA2 promotes apoptosis and autophagy of glioma cells through the AKT/mTOR pathway.
RhoGDI1 interacts with PHLDA2, suppresses the proliferation, migration, and invasion of trophoblast cells, and participates in the pathogenesis of preeclampsia.
Title: RhoGDI1 interacts with PHLDA2, suppresses the proliferation, migration, and invasion of trophoblast cells, and participates in the pathogenesis of preeclampsia.
Tumor-Suppressing STF cDNA 3 Overexpression Suppresses Renal Fibrosis by Alleviating Anoikis Resistance and Inhibiting the PI3K/Akt Pathway.
Title: Tumor-Suppressing STF cDNA 3 Overexpression Suppresses Renal Fibrosis by Alleviating Anoikis Resistance and Inhibiting the PI3K/Akt Pathway.
Prognostic and predictive value of Pleckstrin homology-like domain, family A family members in breast cancer.
Title: Prognostic and predictive value of Pleckstrin homology-like domain, family A family members in breast cancer.
HGF-mediated Up-regulation of PHLDA2 Is Associated With Apoptosis in Gastric Cancer.
Title: HGF-mediated Up-regulation of PHLDA2 Is Associated With Apoptosis in Gastric Cancer.
PHLDA3 promotes lung adenocarcinoma cell proliferation and invasion via activation of the Wnt signaling pathway.
Title: PHLDA3 promotes lung adenocarcinoma cell proliferation and invasion via activation of the Wnt signaling pathway.
PHLDA2 regulates EMT and autophagy in colorectal cancer via the PI3K/AKT signaling pathway.
Title: PHLDA2 regulates EMT and autophagy in colorectal cancer via the PI3K/AKT signaling pathway.
PHLDA2 gene polymorphisms and risk of HELLP syndrome and severe preeclampsia.
Title: PHLDA2 gene polymorphisms and risk of HELLP syndrome and severe preeclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH39948 (e-PCR)
- UniSTS:92025

RH77915 (e-PCR)
- UniSTS:34725

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol phosphate binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in placenta development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of embryonic development	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of spongiotrophoblast cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pleckstrin homology-like domain family A member 2

Names: 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; tumor suppressing subchromosomal transferable fragment cDNA 3; tumor suppressing subtransferable candidate 3; tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein; tumor-supressing STF cDNA 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.