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

Gene ID: 7262, updated on 4-Oct-2020

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
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

Genomic context

See PHLDA2 in Genome Data Viewer
Location:
11p15.4
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2928273..2929420, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2949503..2950650, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 member 18 antisense Neighboring gene cyclin dependent kinase inhibitor 1C Neighboring gene solute carrier family 22 member 18 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene small nucleolar RNA, H/ACA box 54 Neighboring gene Sharpr-MPRA regulatory region 13774

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol phosphate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
placenta development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of glycogen metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of growth hormone activity IEA
Inferred from Electronic Annotation
more info
 
regulation of spongiotrophoblast cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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.

Genomic

  1. NG_009266.1 RefSeqGene

    Range
    5001..6148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003311.4NP_003302.1  pleckstrin homology-like domain family A member 2

    See identical proteins and their annotated locations for NP_003302.1

    Status: REVIEWED

    Source sequence(s)
    AF035444, AI659266
    Consensus CDS
    CCDS7741.1
    UniProtKB/Swiss-Prot
    Q53GA4
    Related
    ENSP00000319231.4, ENST00000314222.5
    Conserved Domains (2) summary
    smart00233
    Location:798
    PH; Pleckstrin homology domain
    pfam00169
    Location:794
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    2928273..2929420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    160388..161535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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