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UniProtKB - Q86YC2 (PALB2_HUMAN)

Protein

Partner and localizer of BRCA2

Gene

PALB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19423707, PubMed:19369211, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA) (PubMed:20871615). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures (PubMed:20871616). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656).9 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA recombination, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
SIGNORiQ86YC2

Names & Taxonomyi

Protein namesi
Recommended name:
Partner and localizer of BRCA2
Gene namesi
Name:PALB2
Synonyms:FANCN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000083093.9
HGNCiHGNC:26144 PALB2
MIMi610355 gene
neXtProtiNX_Q86YC2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC)3 Publications
Disease susceptibility is associated with variations 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).1 Publication
Disease descriptionA 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.
See also OMIM:114480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07984435L → P in BC; abrogates the interaction with BRCA1; abrogates double-stranded DNA break-initiated homologous recombination; abrogates PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization. 1 PublicationCorresponds to variant dbSNP:rs141047069Ensembl.1
Fanconi anemia complementation group N (FANCN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610832
Pancreatic cancer 3 (PNCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613348

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi14K → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi21L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi28Y → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi35L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi42E → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi1030T → I: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51. 1 Publication1

Keywords - Diseasei

Fanconi anemia, Tumor suppressor

Organism-specific databases

DisGeNETi79728
GeneReviewsiPALB2
MalaCardsiPALB2
MIMi114480 phenotype
610832 phenotype
613348 phenotype
OpenTargetsiENSG00000083093
Orphaneti1333 Familial pancreatic carcinoma
84 Fanconi anemia
145 Hereditary breast and ovarian cancer syndrome
227535 Hereditary breast cancer
PharmGKBiPA162398608

Polymorphism and mutation databases

BioMutaiPALB2
DMDMi74727919

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002523911 – 1186Partner and localizer of BRCA2Add BLAST1186

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei172PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei285PhosphoserineCombined sources1
Modified residuei376PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei454PhosphoserineCombined sources1
Modified residuei660PhosphoserineCombined sources1
Modified residuei781PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86YC2
MaxQBiQ86YC2
PaxDbiQ86YC2
PeptideAtlasiQ86YC2
PRIDEiQ86YC2
ProteomicsDBi70395

PTM databases

iPTMnetiQ86YC2
PhosphoSitePlusiQ86YC2

Expressioni

Gene expression databases

BgeeiENSG00000083093 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExiHS_PALB2
ExpressionAtlasiQ86YC2 baseline and differential
GenevisibleiQ86YC2 HS

Organism-specific databases

HPAiCAB014895
HPA057000

Interactioni

Subunit structurei

Homooligomer; dissociated upon DNA damage thus allowing association with BRCA1 (PubMed:19423707, PubMed:28319063). Oligomerization is essential for its focal accumulation at DNA breaks (PubMed:19423707). Part of a BRCA complex containing BRCA1, BRCA2 and PALB2 (PubMed:19369211). Interacts with BRCA1 and this interaction is essential for its function in HRR (PubMed:19369211, PubMed:28319063). Interacts with RAD51AP1 and MORF4L1/MRG15 (PubMed:20332121, PubMed:20871616). Interacts with BRCA2, RAD51C, RAD51 and XRCC3; the interactions are direct and it may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3 (PubMed:28319063, PubMed:16793542, PubMed:19423707, PubMed:19609323, PubMed:20871615, PubMed:20871616, PubMed:24141787). Interacts with POLH; the interaction is direct (PubMed:24485656).10 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi122843, 50 interactors
DIPiDIP-38427N
ELMiQ86YC2
IntActiQ86YC2, 36 interactors
MINTiQ86YC2
STRINGi9606.ENSP00000261584

Structurei

Secondary structure

11186
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ86YC2
SMRiQ86YC2
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86YC2

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati854 – 915WD 1Add BLAST62
Repeati917 – 961WD 2Add BLAST45
Repeati962 – 1009WD 3Add BLAST48
Repeati1010 – 1052WD 4Add BLAST43
Repeati1058 – 1109WD 5Add BLAST52
Repeati1115 – 1153WD 6Add BLAST39
Repeati1155 – 1186WD 7Add BLAST32

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 579DNA-binding (with the preference D loop > dsDNA > ssDNA)Add BLAST579
Regioni1 – 319Interaction with BRCA11 PublicationAdd BLAST319
Regioni1 – 200Interaction with RAD51Add BLAST200
Regioni1 – 160Required for its oligomerization and is important for its focal concentration at DNA damage sitesAdd BLAST160
Regioni395 – 446ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationAdd BLAST52
Regioni775 – 1186Required for interaction with POLH and POLH DNA synthesis stimulation1 PublicationAdd BLAST412
Regioni853 – 1186Interaction with RAD51, BRCA2 and POLH1 PublicationAdd BLAST334

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili9 – 41Sequence analysisAdd BLAST33

Domaini

Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.1 Publication
The coiled coil domain mediates self-association.2 Publications
The chromatin-association motif (ChAM) mediates association with chromatin, probably through nucleosome core particles, independently from binding to D loop, ssDNA or dsDNA structures.2 Publications

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IIBP Eukaryota
ENOG4111F80 LUCA
GeneTreeiENSGT00390000014423
HOGENOMiHOG000115428
HOVERGENiHBG082102
InParanoidiQ86YC2
KOiK10897
OMAiQFLMPPE
OrthoDBiEOG091G0264
PhylomeDBiQ86YC2
TreeFamiTF351544

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR031920 PALB2_WD40
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF16756 PALB2_WD40, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q86YC2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK 
        60         70         80         90        100
TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL 
       110        120        130        140        150
DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ 
       160        170        180        190        200
QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL 
       210        220        230        240        250
SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL 
       260        270        280        290        300
QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST 
       310        320        330        340        350
DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ 
       360        370        380        390        400
TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE 
       410        420        430        440        450
GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN 
       460        470        480        490        500
LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS 
       510        520        530        540        550
RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK 
       560        570        580        590        600
YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL 
       610        620        630        640        650
KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE 
       660        670        680        690        700
GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS 
       710        720        730        740        750
SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV 
       760        770        780        790        800
AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC 
       810        820        830        840        850
DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI 
       860        870        880        890        900
NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA 
       910        920        930        940        950
LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS 
       960        970        980        990       1000
SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG 
      1010       1020       1030       1040       1050
KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWNL KTGQLLKKMH 
      1060       1070       1080       1090       1100
IDDSYQASVC HKAYSEMGLL FIVLSHPCAK ESESLRSPVF QLIVINPKTT 
      1110       1120       1130       1140       1150
LSVGVMLYCL PPGQAGRFLE GDVKDHCAAA ILTSGTIAIW DLLLGQCTAL 
      1160       1170       1180 
LPPVSDQHWS FVKWSGTDSH LLAGQKDGNI FVYHYS
Length:1,186
Mass (Da):131,295
Last modified:June 1, 2003 - v1
Checksum:i215EC32291315FA2
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L3R6I3L3R6_HUMAN
Partner and localizer of BRCA2
PALB2
89Annotation score:
H3BN63H3BN63_HUMAN
Partner and localizer of BRCA2
PALB2 FLJ21816, hCG_1986920
891Annotation score:
I3L1Z5I3L1Z5_HUMAN
Partner and localizer of BRCA2
PALB2
43Annotation score:
I3L2S5I3L2S5_HUMAN
Partner and localizer of BRCA2
PALB2
30Annotation score:

Sequence cautioni

The sequence BAB15140 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07984218K → R Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs138789658EnsemblClinVar.1
Natural variantiVAR_07984328Y → C Abrogates the interaction with BRCA1; decreases double-stranded DNA break-initiated homologous recombination; reduces PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization. 1 PublicationCorresponds to variant dbSNP:rs515726129EnsemblClinVar.1
Natural variantiVAR_07984435L → P in BC; abrogates the interaction with BRCA1; abrogates double-stranded DNA break-initiated homologous recombination; abrogates PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization. 1 PublicationCorresponds to variant dbSNP:rs141047069Ensembl.1
Natural variantiVAR_07984537R → H Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs202194596EnsemblClinVar.1
Natural variantiVAR_06636146H → Y1 Publication1
Natural variantiVAR_066362219D → G1 PublicationCorresponds to variant dbSNP:rs45594034EnsemblClinVar.1
Natural variantiVAR_032959309I → V. Corresponds to variant dbSNP:rs3809683EnsemblClinVar.1
Natural variantiVAR_066363334Y → C1 PublicationCorresponds to variant dbSNP:rs200620434EnsemblClinVar.1
Natural variantiVAR_066364337L → S1 PublicationCorresponds to variant dbSNP:rs45494092EnsemblClinVar.1
Natural variantiVAR_066365414R → Q1 PublicationCorresponds to variant dbSNP:rs749461008EnsemblClinVar.1
Natural variantiVAR_066366425V → M1 PublicationCorresponds to variant dbSNP:rs576081828EnsemblClinVar.1
Natural variantiVAR_066367491A → T1 PublicationCorresponds to variant dbSNP:rs577969558EnsemblClinVar.1
Natural variantiVAR_066368515K → R1 PublicationCorresponds to variant dbSNP:rs515726072EnsemblClinVar.1
Natural variantiVAR_066369559Q → R1 PublicationCorresponds to variant dbSNP:rs152451EnsemblClinVar.1
Natural variantiVAR_066370672E → Q1 PublicationCorresponds to variant dbSNP:rs45532440EnsemblClinVar.1
Natural variantiVAR_066371712A → V1 PublicationCorresponds to variant dbSNP:rs141458731EnsemblClinVar.1
Natural variantiVAR_066372728F → L1 Publication1
Natural variantiVAR_054150864P → S2 PublicationsCorresponds to variant dbSNP:rs45568339EnsemblClinVar.1
Natural variantiVAR_066373917V → A1 PublicationCorresponds to variant dbSNP:rs763645981EnsemblClinVar.1
Natural variantiVAR_066374932V → M1 PublicationCorresponds to variant dbSNP:rs45624036EnsemblClinVar.1
Natural variantiVAR_066375939L → W May be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR. 2 PublicationsCorresponds to variant dbSNP:rs45478192EnsemblClinVar.1
Natural variantiVAR_066376966I → V1 PublicationCorresponds to variant dbSNP:rs786204248EnsemblClinVar.1
Natural variantiVAR_066377998G → E May be associated with breast cancer susceptibility. 1 PublicationCorresponds to variant dbSNP:rs45551636EnsemblClinVar.1
Natural variantiVAR_0663781025A → T1 PublicationCorresponds to variant dbSNP:rs746872839EnsemblClinVar.1
Natural variantiVAR_0663791043G → A May be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51C, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR. 1 PublicationCorresponds to variant dbSNP:rs377713277EnsemblClinVar.1
Natural variantiVAR_0663801075S → G1 Publication1
Natural variantiVAR_0663811105V → A1 Publication1
Natural variantiVAR_0663821114Q → H1 Publication1
Natural variantiVAR_0663831143L → P May be associated with breast cancer susceptibility. 2 PublicationsCorresponds to variant dbSNP:rs62625284EnsemblClinVar.1
Natural variantiVAR_0663841170H → Y1 PublicationCorresponds to variant dbSNP:rs200283306EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL834425 mRNA Translation: CAD39086.1
CR749637 mRNA Translation: CAH18431.1
AC008870 Genomic DNA No translation available.
CH471145 Genomic DNA Translation: EAW55813.1
BC044254 mRNA Translation: AAH44254.1
AK025469 mRNA Translation: BAB15140.1 Different initiation.
AK097533 mRNA Translation: BAC05090.1
CCDSiCCDS32406.1
RefSeqiNP_078951.2, NM_024675.3
UniGeneiHs.444664

Genome annotation databases

EnsembliENST00000261584; ENSP00000261584; ENSG00000083093
GeneIDi79728
KEGGihsa:79728
UCSCiuc002dlx.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL834425 mRNA Translation: CAD39086.1
CR749637 mRNA Translation: CAH18431.1
AC008870 Genomic DNA No translation available.
CH471145 Genomic DNA Translation: EAW55813.1
BC044254 mRNA Translation: AAH44254.1
AK025469 mRNA Translation: BAB15140.1 Different initiation.
AK097533 mRNA Translation: BAC05090.1
CCDSiCCDS32406.1
RefSeqiNP_078951.2, NM_024675.3
UniGeneiHs.444664

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W18X-ray1.90A835-1186[»]
3EU7X-ray2.20A835-1186[»]
ProteinModelPortaliQ86YC2
SMRiQ86YC2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122843, 50 interactors
DIPiDIP-38427N
ELMiQ86YC2
IntActiQ86YC2, 36 interactors
MINTiQ86YC2
STRINGi9606.ENSP00000261584

PTM databases

iPTMnetiQ86YC2
PhosphoSitePlusiQ86YC2

Polymorphism and mutation databases

BioMutaiPALB2
DMDMi74727919

Proteomic databases

EPDiQ86YC2
MaxQBiQ86YC2
PaxDbiQ86YC2
PeptideAtlasiQ86YC2
PRIDEiQ86YC2
ProteomicsDBi70395

Protocols and materials databases

DNASUi79728
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261584; ENSP00000261584; ENSG00000083093
GeneIDi79728
KEGGihsa:79728
UCSCiuc002dlx.2 human

Organism-specific databases

CTDi79728
DisGeNETi79728
EuPathDBiHostDB:ENSG00000083093.9
GeneCardsiPALB2
GeneReviewsiPALB2
HGNCiHGNC:26144 PALB2
HPAiCAB014895
HPA057000
MalaCardsiPALB2
MIMi114480 phenotype
610355 gene
610832 phenotype
613348 phenotype
neXtProtiNX_Q86YC2
OpenTargetsiENSG00000083093
Orphaneti1333 Familial pancreatic carcinoma
84 Fanconi anemia
145 Hereditary breast and ovarian cancer syndrome
227535 Hereditary breast cancer
PharmGKBiPA162398608
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIBP Eukaryota
ENOG4111F80 LUCA
GeneTreeiENSGT00390000014423
HOGENOMiHOG000115428
HOVERGENiHBG082102
InParanoidiQ86YC2
KOiK10897
OMAiQFLMPPE
OrthoDBiEOG091G0264
PhylomeDBiQ86YC2
TreeFamiTF351544

Enzyme and pathway databases

ReactomeiR-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
SIGNORiQ86YC2

Miscellaneous databases

ChiTaRSiPALB2 human
EvolutionaryTraceiQ86YC2
GeneWikiiPALB2
GenomeRNAii79728
PROiPR:Q86YC2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000083093 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExiHS_PALB2
ExpressionAtlasiQ86YC2 baseline and differential
GenevisibleiQ86YC2 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR031920 PALB2_WD40
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF16756 PALB2_WD40, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPALB2_HUMAN
AccessioniPrimary (citable) accession number: Q86YC2
Secondary accession number(s): A6NIE1
, Q8N7Y6, Q8ND31, Q9H6W1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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