PHLDA2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PHLDA2 (HGNC:12385) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
pleckstrin homology like domain family A member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TSSC3
Alias symbols
IPL, BWR1C, HLDA2
%HI
63.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.68(Read more about gnomAD LOEUF score)
Cytoband
11p15.4
Genomic Coordinates
GRCh37/hg19: chr11:2949503-2950650 NCBI Ensembl UCSC
GRCh38/hg38: chr11:2928273-2929420 NCBI Ensembl UCSC
MANE Select Transcript
NM_003311.4 ENST00000314222.5 (Read more about MANE Select)
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). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-844
ClinGen Curation ID:
CCID:007662
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)