Entity Details

Primary name PALB2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86YC2
EntryNamePALB2_HUMAN
FullNamePartner and localizer of BRCA2
TaxID9606
Evidenceevidence at protein level
Length1186
SequenceStatuscomplete
DateCreated2006-10-17
DateModified2021-06-02

Ontological Relatives

GenesPALB2

GO terms

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GOName
GO:0000724 double-strand break repair via homologous recombination
GO:0001756 somitogenesis
GO:0001833 inner cell mass cell proliferation
GO:0003677 DNA binding
GO:0005654 nucleoplasm
GO:0007498 mesoderm development
GO:0009887 animal organ morphogenesis
GO:0032991 protein-containing complex
GO:0035264 multicellular organism growth
GO:0036342 post-anal tail morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0048568 embryonic organ development

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR031920 Partner and localiser of BRCA2, WD40 domainDomainDomain
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR042417 Partner and localizer of BRCA2FamilyFamily

Diseases

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Disease IDSourceNameDescription
613348 OMIMPancreatic cancer 3 (PNCA3)A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. The disease is caused by variants affecting the gene represented in this entry.
610832 OMIMFanconi anemia complementation group N (FANCN)A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by variants affecting the gene represented in this entry.
114480 OMIMBreast cancer (BC)A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Disease susceptibility is associated with variants affecting the gene represented in this entry. Breast cancer susceptibility is strongly associated with PALB2 truncating mutations. Conversely, rare missense mutations do not strongly influence breast cancer risk (PubMed:22241545).

Interactions

46 interactions

InteractorPartnerSourcesPublicationsLink
PALB2_HUMANBRCA2_HUMANBioGRID, DIP, HPRD, IntAct, MINT, UniProt16793542 17200672 17420451 19268590 19369211 19553677 19584259 19609323 20332121 20871615 21466675 22193777 22293751 22331464 23038782 23585894 24141787 24485656 24835992 25016020 26649820 26833090 26990772 28240985 28319063 28398198 28765325 30410870 details
PALB2_HUMANRAD51_HUMANBioGRID, DIP, MINT, UniProt16793542 19584259 20332121 20871615 20871616 22193777 22331464 23585894 24141787 25016020 26833090 28240985 28319063 28398198 29499138 details
PALB2_HUMANBRCA1_HUMANBioGRID, DIP, MINT, UniProt19268590 19369211 19553677 19584259 22193777 22331464 23038782 23585894 24085845 25016020 25184681 25652403 26649820 28089683 28319063 28398198 29656893 30337689 details
PALB2_HUMANMO4L1_HUMANBioGRID, DIP, IntAct, MINT19553677 20332121 21466675 22193777 22244764 22331464 23585894 24981860 25016020 25960410 26186194 28514442 details
PALB2_HUMANPDS5B_HUMANBioGRID, MINT22293751 27924011 details
PALB2_HUMANBCAS3_HUMANBioGRID, MINT25640309 details
PALB2_HUMANCASZ1_HUMANBioGRID, MINT25640309 details
PALB2_HUMANCCL5_HUMANBioGRID, MINT25640309 details
PALB2_HUMANCYTM_HUMANBioGRID, MINT25640309 details
PALB2_HUMANDIRA3_HUMANBioGRID, MINT25640309 details
PALB2_HUMANERRFI_HUMANBioGRID, MINT25640309 details
PALB2_HUMANLRAT2_HUMANBioGRID, MINT25640309 details
PALB2_HUMANGREB1_HUMANBioGRID, MINT25640309 details
PALB2_HUMANI13R2_HUMANBioGRID, MINT25640309 details
PALB2_HUMANKLK6_HUMANBioGRID, MINT25640309 details
PALB2_HUMANIL24_HUMANBioGRID, MINT25640309 details
PALB2_HUMANLYPD3_HUMANBioGRID, MINT25640309 details
PALB2_HUMANMRC2_HUMANBioGRID, MINT25640309 details
PALB2_HUMANPRD14_HUMANBioGRID, MINT25640309 details
PALB2_HUMANARY2_HUMANBioGRID, MINT25640309 details
PALB2_HUMANRHBT2_HUMANBioGRID, MINT25640309 details
PALB2_HUMANSPB5_HUMANBioGRID, MINT25640309 details
PALB2_HUMANSNAI1_HUMANBioGRID, MINT25640309 details
PALB2_HUMANTHRSP_HUMANBioGRID, MINT25640309 details
PALB2_HUMANRA51C_HUMANBioGRID, UniProt24141787 details
PALB2_HUMANXRCC3_HUMANBioGRID, UniProt24141787 details
PALB2_HUMANPOLH_HUMANBioGRID, UniProt24485656 details
PALB2_HUMANKEAP1_HUMANBioGRID, DIP, IntAct22331464 25016020 26649820 28398198 28416489 30126895 31257023 32296183 details
PALB2_HUMANMO4L2_HUMANBioGRID, IntAct19553677 20332121 21466675 24981860 28514442 details
PALB2_HUMANR51A1_HUMANBioGRID, DIP20871616 details
PALB2_HUMANUBP11_HUMANBioGRID, DIP26649820 details
PALB2_HUMANH31_HUMANBioGRID22193777 32041954 details
PALB2_HUMANUBP2_HUMANBioGRID26649820 details
PALB2_HUMANRN168_HUMANBioGRID28240985 details
PALB2_HUMANH4_HUMANBioGRID30804502 32041954 details
PALB2_HUMANH2B1B_HUMANBioGRID32041954 details
PALB2_HUMANH2AX_HUMANBioGRID, MINT, UniProt22193777 24485656 29499138 32041954 details
PALB2_HUMANPALB2_HUMANBioGRID, MINT22331464 23038782 25016020 28319063 details
PALB2_HUMANCAN1_HUMANBioGRID20518497 details
PALB2_HUMANHNRPC_HUMANBioGRID23585894 details
PALB2_HUMANH2B2E_HUMANBioGRID22193777 details
PALB2_HUMANERCC5_HUMANBioGRID26833090 details
PALB2_HUMANDPOLN_HUMANBioGRID26269593 details
PALB2_HUMANRFA2_HUMANBioGRID25113031 details
PALB2_HUMANATR_HUMANBioGRID28089683 details
PALB2_HUMANRNH2A_HUMANBioGRID30560944 details