Seroatlas · Human Serome Atlas

PACS2

Phosphofurin acidic cluster sorting protein 2

Also known as: KIAA0602, PACS1L, PACS2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q86VP3
Gene
PACS2
Ensembl
ENSG00000179364
Chromosome
14
Canonical length
889 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Mitochondria

OverviewNCBI Gene

Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

889 residues, UniProt reviewed canonical sequence.

>Q86VP3|PACS2
     1  MAERGRLGLP GAPGALNTPV PMNLFATWEV DGSSPSCVPR LCSLTLKKLV VFKELEKELI
    61  SVVIAVKMQG SKRILRSHEI VLPPSGQVET DLALTFSLQY PHFLKREGNK LQIMLQRRKR
   121  YKNRTILGYK TLAAGSISMA EVMQHPSEGG QVLSLCSSIK EAPVKAAEIW IASLSSQPID
   181  HEDSTMQAGP KAKSTDNYSE EEYESFSSEQ EASDDAVQGQ DLDEDDFDVG KPKKQRRSIV
   241  RTTSMTRQQN FKQKVVALLR RFKVSDEVLD SEQDPAEHIP EAEEDLDLLY DTLDMEHPSD
   301  SGPDMEDDDS VLSTPKPKLR PYFEGLSHSS SQTEIGSIHS ARSHKEPPSP ADVPEKTRSL
   361  GGRQPSDSVS DTVALGVPGP REHPGQPEDS PEAEASTLDV FTERLPPSGR ITKTESLVIP
   421  STRSEGKQAG RRGRSTSLKE RQAARPQNER ANSLDNERCP DARSQLQIPR KTVYDQLNHI
   481  LISDDQLPEN IILVNTSDWQ GQFLSDVLQR HTLPVVCTCS PADVQAAFST IVSRIQRYCN
   541  CNSQPPTPVK IAVAGAQHYL SAILRLFVEQ LSHKTPDWLG YMRFLVIPLG SHPVARYLGS
   601  VDYRYNNFFQ DLAWRDLFNK LEAQSAVQDT PDIVSRITQY IAGANCAHQL PIAEAMLTYK
   661  QKSPDEESSQ KFIPFVGVVK VGIVEPSSAT SGDSDDAAPS GSGTLSSTPP SASPAAKEAS
   721  PTPPSSPSVS GGLSSPSQGV GAELMGLQVD YWTAAQPADR KRDAEKKDLP VTKNTLKCTF
   781  RSLQVSRLPS SGEAAATPTM SMTVVTKEKN KKVMFLPKKA KDKDVESKSQ CIEGISRLIC
   841  TARQQQNMLR VLIDGVECSD VKFFQLAAQW SSHVKHFPIC IFGHSKATF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PACS2 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)
0.47
Highest tissue expression
96 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 96 nTPM
  • midbrain: 44 nTPM
  • cerebellum: 38 nTPM
  • hippocampal formation: 35 nTPM
  • cerebral cortex: 34 nTPM
  • skeletal muscle: 32 nTPM

Single-cell type

  • oligodendrocytes: 203 nCPM
  • retinal horizontal cells: 190 nCPM
  • late spermatids: 182 nCPM
  • microglia: 111 nCPM
  • proximal tubule cells: 90 nCPM
  • early spermatids: 88 nCPM

Immune cell

  • plasmacytoid DC: 2.2 nTPM
  • non-classical monocyte: 1.8 nTPM
  • myeloid DC: 1 nTPM
  • intermediate monocyte: 0.9 nTPM
  • classical monocyte: 0.6 nTPM
  • MAIT T-cell: 0.3 nTPM

Brain region

  • medulla oblongata: 146 nTPM
  • white matter: 139 nTPM
  • pons: 132 nTPM
  • cerebellum: 125 nTPM
  • midbrain: 121 nTPM
  • thalamus: 116 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PACS2.

Disease | AllUniProt

Conditions PACS2 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 66 (DEE66) MIM:618067

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 1,303 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PACS2 was assayed in.

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)
0.28
gnomAD pLI
1
gnomAD missense Z
2.24
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PACS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PACS2 as an antibody target. Whether an autoantibody or antibody against PACS2 could matter depends on whether native PACS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PACS2 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 PACS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PACS2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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