• Gene id: 7262

Gene Summary

• Gene Symbol: PHLDA2   Gene   UCSC   Ensembl
• Aliases: BRW1C, BWR1C, HLDA2, IPL, TSSC3
• Gene name: pleckstrin homology like domain family A member 2
• Alternate names: pleckstrin homology-like domain family A member 2, 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 suppress,
• Gene location: 11p15.4 (2929419: 2928272)     Exons: 2     NC_000011.10
• Gene summary(Entrez): 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, rhabdomyosarco
• OMIM: 602131

Protein Summary

• Protein general information: Q53GA4  
  • Name: Pleckstrin homology like domain family A member 2 (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 f
  • Length: 152  
  • Mass: 17092
  • 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
• Sequence:

  MKSPDEVLREGELEKRSDSLFQLWKKKRGVLTSDRLSLFPASPRARPKELRFHSILKVDCVERTGKYVYFTIVTT
  DHKEIDFRCAGESCWNAAIALALIDFQNRRALQDFRSRQERTAPAAPAEDAVAAAAAAPSEPSEPSRPSPQPKPR
  TP

• Structural information:
  • Protein Domains: (7..9-)
    (/note="PH"-)
  • Interpro: IPR011993  IPR001849  IPR042832  IPR040443  
  • STRING: ENSP00000319231
• Other Databases: GeneCards:  PHLDA2  Malacards:  PHLDA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001890	placenta development	IBA	biological process
GO:1901981	phosphatidylinositol phosphate binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903547	regulation of growth hormone activity	IEA	biological process
GO:0060721	regulation of spongiotrophoblast cell proliferation	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0070873	regulation of glycogen metabolic process	IEA	biological process
GO:0045995	regulation of embryonic development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881