Seroatlas · Human Serome Atlas

PHLDA2

Pleckstrin homology-like domain family A member 2

Also known as: BWR1C, HLDA2, IPL, PHLA2_HUMAN, TSSC3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q53GA4
Gene: PHLDA2
Ensembl: ENSG00000181649
Chromosome: 11
Canonical length: 152 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoli

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

152 residues, UniProt reviewed canonical sequence.

>Q53GA4|PHLDA2
     1  MKSPDEVLRE GELEKRSDSL FQLWKKKRGV LTSDRLSLFP ASPRARPKEL RFHSILKVDC
    61  VERTGKYVYF TIVTTDHKEI DFRCAGESCW NAAIALALID FQNRRALQDF RSRQERTAPA
   121  APAEDAVAAA AAAPSEPSEP SRPSPQPKPR TP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHLDA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 75 nTPM

Expression across tissuesHPA

Tissue

placenta: 75 nTPM
esophagus: 44 nTPM
skin: 22 nTPM
vagina: 19 nTPM
stomach: 19 nTPM
kidney: 17 nTPM

Single-cell type

syncytiotrophoblasts: 6,858 nCPM
cytotrophoblasts: 3,201 nCPM
extravillous trophoblasts: 1,636 nCPM
migrating cytotrophoblasts: 1,277 nCPM
ocular epithelial cells: 892 nCPM
esophageal apical cells: 581 nCPM

Immune cell

myeloid DC: 1.9 nTPM
memory CD4 T-cell: 1.8 nTPM
classical monocyte: 1.2 nTPM
intermediate monocyte: 1.1 nTPM
T-reg: 0.8 nTPM
naive CD4 T-cell: 0.5 nTPM

Brain region

medulla oblongata: 8.3 nTPM
pons: 7.6 nTPM
midbrain: 5.3 nTPM
hypothalamus: 3.5 nTPM
cerebral cortex: 3 nTPM
thalamus: 2.8 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.73
gnomAD pLI: 0.15
gnomAD missense Z: 0.13
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

phosphatidylinositol phosphate binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PHLDA2 as an antibody target. Whether an autoantibody or antibody against PHLDA2 could matter depends on whether native PHLDA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHLDA2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PHLDA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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