Seroatlas · Human Serome Atlas

PALB2

Partner and localizer of BRCA2

Also known as: FANCN, FLJ21816, PALB2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86YC2
Gene: PALB2
Ensembl: ENSG00000083093
Chromosome: 16
Canonical length: 1186 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1186 residues, UniProt reviewed canonical sequence.

>Q86YC2|PALB2
     1  MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ
    61  QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR
   121  TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE
   181  EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP
   241  NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST
   301  DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD
   361  TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ
   421  RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK
   481  LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN
   541  RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL
   601  KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS
   661  PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT
   721  TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG
   781  SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE
   841  TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA
   901  LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL
   961  LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ
  1021  GMQEALLGTT IMNNIVIWNL KTGQLLKKMH IDDSYQASVC HKAYSEMGLL FIVLSHPCAK
  1081  ESESLRSPVF QLIVINPKTT LSVGVMLYCL PPGQAGRFLE GDVKDHCAAA ILTSGTIAIW
  1141  DLLLGQCTAL LPPVSDQHWS FVKWSGTDSH LLAGQKDGNI FVYHYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PALB2 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): 0.56
Highest tissue expression: 9.6 nTPM

Expression across tissuesHPA

Tissue

esophagus: 9.6 nTPM
liver: 9.3 nTPM
testis: 9.3 nTPM
cerebellum: 8.6 nTPM
skin: 8.5 nTPM
spleen: 7.2 nTPM

Single-cell type

cone photoreceptor cells: 54 nCPM
early primary spermatocytes: 40 nCPM
proximal tubule cells: 25 nCPM
sertoli cells: 25 nCPM
myonuclei: 22 nCPM
erythrocyte progenitors: 20 nCPM

Immune cell

basophil: 5.6 nTPM
non-classical monocyte: 3.7 nTPM
memory CD8 T-cell: 2.3 nTPM
intermediate monocyte: 2.1 nTPM
MAIT T-cell: 2.1 nTPM
memory CD4 T-cell: 2.1 nTPM

Brain region

cerebellum: 5.6 nTPM
choroid plexus: 5.2 nTPM
white matter: 4.3 nTPM
midbrain: 4.1 nTPM
pons: 4.1 nTPM
thalamus: 4.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PALB2.

Disease | AllUniProt

Conditions PALB2 is implicated in, by any mechanism.

Breast cancer (BC) MIM:114480
Fanconi anemia complementation group N (FANCN) MIM:610832
Pancreatic cancer 3 (PNCA3) MIM:613348
Breast-ovarian cancer, familial, 5 (BROVCA5) MIM:620442

Disease | GeneticClinVar

1,475 pathogenic / likely-pathogenic of 6,685 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group N

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): 1.01
gnomAD pLI: 0
gnomAD missense Z: 0.28
DepMap mean gene effect: -0.26
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

DNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
Partner and localiser of BRCA2, WD40 domain
Partner and localizer of BRCA2
Partner and localizer of BRCA2 WD40 domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PALB2 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 PALB2 as an antibody target. Whether an autoantibody or antibody against PALB2 could matter depends on whether native PALB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PALB2 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 PALB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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