PHLDA2

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PHLDA2
Identifiers
AliasesPHLDA2, BRW1C, BWR1C, HLDA2, IPL, TSSC3, pleckstrin homology like domain family A member 2
External IDsOMIM: 602131 MGI: 1202307 HomoloGene: 2482 GeneCards: PHLDA2
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for PHLDA2
Genomic location for PHLDA2
Band11p15.4Start2,928,273 bp[1]
End2,929,420 bp[1]
RNA expression pattern
PBB GE PHLDA2 209803 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003311

NM_009434

RefSeq (protein)

NP_003302

NP_033460

Location (UCSC)Chr 11: 2.93 – 2.93 MbChr 7: 143.5 – 143.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pleckstrin homology-like domain family A member 2 is a protein that in humans is encoded by the PHLDA2 gene.[5][6][7]

This gene is one of several genes in the imprinted gene domain of 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. Studies of the mouse gene, however, which is also located in an imprinted gene domain, have shown that the product of this gene regulates placental growth.[7]

References[edit]

  1. ^ a b c ENSG00000274538 GRCh38: Ensembl release 89: ENSG00000181649, ENSG00000274538 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010760 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Qian N, Frank D, O'Keefe D, Dao D, Zhao L, Yuan L, Wang Q, Keating M, Walsh C, Tycko B (Dec 1997). "The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis". Hum Mol Genet. 6 (12): 2021–9. doi:10.1093/hmg/6.12.2021. PMID 9328465.
  6. ^ Hu RJ, Lee MP, Connors TD, Johnson LA, Burn TC, Su K, Landes GM, Feinberg AP (Jan 1998). "A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes". Genomics. 46 (1): 9–17. doi:10.1006/geno.1997.4981. PMID 9403053.
  7. ^ a b "Entrez Gene: PHLDA2 pleckstrin homology-like domain, family A, member 2".

Further reading[edit]