Seroatlas · Human Serome Atlas

PGAP2

Acyltransferase PGAP2

Also known as: CWH43-N, FRAG1, MRT17, MRT21, PGAP2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UHJ9
Gene: PGAP2
Ensembl: ENSG00000148985
Chromosome: 11
Canonical length: 254 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Microtubules

OverviewNCBI Gene

The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

254 residues, UniProt reviewed canonical sequence.

>Q9UHJ9|PGAP2
     1  MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT ATHCGVPNYL
    61  PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL SCTSPCSCYR PLCRLNFGLN
   121  VVENLALLVL TYVSSSEDFT IHENAFIVFI ASSLGHMLLT CILWRLTKKH TVSQEDRKSY
   181  SWKQRLFIIN FISFFSALAV YFRHNMYCEA GVYTIFAILE YTVVLTNMAF HMTAWWDFGN
   241  KELLITSQPE EKRF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PGAP2 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: Other membrane
Secreted: No
Transmembrane segments: 5
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 204 nTPM

Expression across tissuesHPA

Tissue

epididymis: 204 nTPM
skin: 45 nTPM
esophagus: 33 nTPM
seminal vesicle: 32 nTPM
liver: 30 nTPM
testis: 27 nTPM

Single-cell type

late spermatids: 514 nCPM
epididymal principal cells: 290 nCPM
early spermatids: 182 nCPM
cytotrophoblasts: 108 nCPM
late primary spermatocytes: 69 nCPM
esophageal suprabasal cells: 55 nCPM

Immune cell

neutrophil: 18 nTPM
naive CD4 T-cell: 17 nTPM
T-reg: 13 nTPM
memory CD4 T-cell: 13 nTPM
naive B-cell: 13 nTPM
naive CD8 T-cell: 12 nTPM

Brain region

white matter: 20 nTPM
medulla oblongata: 15 nTPM
basal ganglia: 14 nTPM
cerebral cortex: 14 nTPM
thalamus: 14 nTPM
choroid plexus: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PGAP2.

Disease | AllUniProt

Conditions PGAP2 is implicated in, by any mechanism.

Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) MIM:614207

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hyperphosphatasia with intellectual disability syndrome 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Inborn genetic diseases
Genetic developmental and epileptic encephalopathy

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): 0.36
gnomAD pLI: 0.93
gnomAD missense Z: 0.93
DepMap mean gene effect: -0.03
DepMap dependency class: selective

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

GPI anchor biosynthetic process

Molecular functions

transferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

CWH43-like, N-terminal domain
Frag1/DRAM/Sfk1/Cwh43P N-terminal domain
Post-GPI attachment to proteins factor 2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PGAP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

PGAP2IP
CREB3L1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PGAP2 as an antibody target. Whether an autoantibody or antibody against PGAP2 could matter depends on whether native PGAP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PGAP2 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 PGAP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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