UniProtKB - Q86YC2 (PALB2_HUMAN)

BLAST

>sp|Q86YC2|PALB2_HUMAN Partner and localizer of BRCA2 OS=Homo sapiens OX=9606 GN=PALB2 PE=1 SV=1
MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQ
QDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQR
TDDTQEHFPHRVSDPSGEQKQKLPSRRKKQQKRTFISQERDCVFGTDSLRLSGKRLKEQE
EISSKNPARSPVTEIRTHLLSLKSELPDSPEPVTEINEDSVLIPPTAQPEKGVDTFLRRP
NFTRATTVPLQTLSDSGSSQHLEHIPPKGSSELTTHDLKNIRFTSPVSLEAQGKKMTVST
DNLLVNKAISKSGQLPTSSNLEANISCSLNELTYNNLPANENQNLKEQNQTEKSLKSPSD
TLDGRNENLQESEILSQPKSLSLEATSPLSAEKHSCTVPEGLLFPAEYYVRTTRSMSNCQ
RKVAVEAVIQSHLDVKKKGFKNKNKDASKNLNLSNEETDQSEIRMSGTCTGQPSSRTSQK
LLSLTKVSSPAGPTEDNDLSRKAVAQAPGRRYTGKRKSACTPASDHCEPLLPTSSLSIVN
RSKEEVTSHKYQHEKLFIQVKGKKSRHQKEDSLSWSNSAYLSLDDDAFTAPFHRDGMLSL
KQLLSFLSITDFQLPDEDFGPLKLEKVKSCSEKPVEPFESKMFGERHLKEGSCIFPEELS
PKRMDTEMEDLEEDLIVLPGKSHPKRPNSQSQHTKTGLSSSILLYTPLNTVAPDDNDRPT
TDMCSPAFPILGTTPAFGPQGSYEKASTEVAGRTCCTPQLAHLKDSVCLASDTKQFDSSG
SPAKPHTTLQVSGRQGQPTCDCDSVPPGTPPPIESFTFKENQLCRNTCQELHKHSVEQTE
TAELPASDSINPGNLQLVSELKNPSGSCSVDVSAMFWERAGCKEPCIITACEDVVSLWKA
LDAWQWEKLYTWHFAEVPVLQIVPVPDVYNLVCVALGNLEIREIRALFCSSDDESEKQVL
LKSGNIKAVLGLTKRRLVSSSGTLSDQQVEVMTFAEDGGGKENQFLMPPEETILTFAEVQ
GMQEALLGTTIMNNIVIWNLKTGQLLKKMHIDDSYQASVCHKAYSEMGLLFIVLSHPCAK
ESESLRSPVFQLIVINPKTTLSVGVMLYCLPPGQAGRFLEGDVKDHCAAAILTSGTIAIW
DLLLGQCTALLPPVSDQHWSFVKWSGTDSHLLAGQKDGNIFVYHYS

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History
Entry version 139 (16 Jan 2019)
Sequence version 1 (01 Jun 2003)
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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
Inferred from direct assayⁱ
- 20871616

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

animal organ morphogenesis Source: Ensembl
double-strand break repair via homologous recombination
Source: UniProtKB
Inferred from direct assayⁱ
- 19369211
- 19423707
embryonic organ development Source: Ensembl
inner cell mass cell proliferation Source: Ensembl
mesoderm development Source: Ensembl
multicellular organism growth Source: Ensembl
negative regulation of apoptotic process Source: Ensembl
post-anal tail morphogenesis Source: Ensembl
somitogenesis Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding
Biological process	DNA damage, DNA recombination, DNA repair

Enzyme and pathway databases

Reactomeⁱ	R-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
SIGNORⁱ	Q86YC2

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Partner and localizer of BRCA2
Gene namesⁱ	Name:PALB2 Synonyms:FANCN
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 16

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000083093.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:26144 PALB2
MIMⁱ	610355 gene
neXtProtⁱ	NX_Q86YC2

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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_079844	35	L → 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.

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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	14	K → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication	1
Mutagenesisⁱ	21	L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication	1
Mutagenesisⁱ	28	Y → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication	1
Mutagenesisⁱ	35	L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication	1
Mutagenesisⁱ	42	E → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication	1
Mutagenesisⁱ	1030	T → I: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51. 1 Publication	1

Keywords - Diseaseⁱ

Fanconi anemia, Tumor suppressor

Organism-specific databases

DisGeNET More...DisGeNETⁱ	79728
GeneReviewsⁱ	PALB2
MalaCards human disease database More...MalaCardsⁱ	PALB2
MIMⁱ	114480 phenotype 610832 phenotype 613348 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000083093
Orphanetⁱ	1333 Familial pancreatic carcinoma 84 Fanconi anemia 145 Hereditary breast and ovarian cancer syndrome 227535 Hereditary breast cancer
PharmGKBⁱ	PA162398608

Polymorphism and mutation databases

BioMutaⁱ	PALB2
DMDMⁱ	74727919

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000252391	1 – 1186	Partner and localizer of BRCA2Add BLAST		1186

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	172	PhosphoserineCombined sources	1
Modified residueⁱ	190	PhosphoserineCombined sources	1
Modified residueⁱ	285	PhosphoserineCombined sources	1
Modified residueⁱ	376	PhosphoserineCombined sources	1
Modified residueⁱ	387	PhosphoserineCombined sources	1
Modified residueⁱ	454	PhosphoserineCombined sources	1
Modified residueⁱ	660	PhosphoserineCombined sources	1
Modified residueⁱ	781	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q86YC2
jPOSTⁱ	Q86YC2
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q86YC2
PaxDbⁱ	Q86YC2
PeptideAtlas More...PeptideAtlasⁱ	Q86YC2
PRIDEⁱ	Q86YC2
ProteomicsDBⁱ	70395

PTM databases

iPTMnetⁱ	Q86YC2
PhosphoSitePlusⁱ	Q86YC2

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000083093 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExⁱ	HS_PALB2
ExpressionAtlasⁱ	Q86YC2 baseline and differential
Genevisibleⁱ	Q86YC2 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB014895 HPA057000

HPAⁱ

CAB014895
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

With	Entry	#Exp.	IntAct
BRCA1	P38398	24	EBI-1222653,EBI-349905
BRCA2	P51587	22	EBI-1222653,EBI-79792
KEAP1	Q14145	3	EBI-1222653,EBI-751001
MORF4L1	Q9UBU8-2	2	EBI-1222653,EBI-10288852
POLH	Q9Y253	7	EBI-1222653,EBI-2827270
RAD51	Q06609	7	EBI-1222653,EBI-297202
RAD51AP1	Q96B01-2	2	EBI-1222653,EBI-1178743
RAD51C	O43502	10	EBI-1222653,EBI-2267048
USP11	P51784	2	EBI-1222653,EBI-306876
XRCC3	O43542	3	EBI-1222653,EBI-2849976

Protein-protein interaction databases

BioGridⁱ	122843, 50 interactors
Database of interacting proteins More...DIPⁱ	DIP-38427N
ELMⁱ	Q86YC2
IntActⁱ	Q86YC2, 36 interactors
Molecular INTeraction database More...MINTⁱ	Q86YC2
STRINGⁱ	9606.ENSP00000261584

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	855 – 861	Combined sources	7
Beta strandⁱ	869 – 877	Combined sources	9
Beta strandⁱ	884 – 913	Combined sources	30
Beta strandⁱ	919 – 922	Combined sources	4
Beta strandⁱ	932 – 936	Combined sources	5
Beta strandⁱ	938 – 947	Combined sources	10
Beta strandⁱ	958 – 972	Combined sources	15
Turnⁱ	973 – 975	Combined sources	3
Beta strandⁱ	976 – 984	Combined sources	9
Beta strandⁱ	988 – 994	Combined sources	7
Beta strandⁱ	1000 – 1006	Combined sources	7
Beta strandⁱ	1013 – 1020	Combined sources	8
Beta strandⁱ	1025 – 1030	Combined sources	6
Beta strandⁱ	1033 – 1039	Combined sources	7
Turnⁱ	1040 – 1042	Combined sources	3
Beta strandⁱ	1045 – 1050	Combined sources	6
Beta strandⁱ	1053 – 1055	Combined sources	3
Beta strandⁱ	1059 – 1066	Combined sources	8
Beta strandⁱ	1069 – 1075	Combined sources	7
Beta strandⁱ	1090 – 1096	Combined sources	7
Turnⁱ	1097 – 1100	Combined sources	4
Beta strandⁱ	1101 – 1108	Combined sources	8
Beta strandⁱ	1118 – 1124	Combined sources	7
Beta strandⁱ	1127 – 1132	Combined sources	6
Beta strandⁱ	1137 – 1141	Combined sources	5
Turnⁱ	1142 – 1144	Combined sources	3
Beta strandⁱ	1146 – 1151	Combined sources	6
Beta strandⁱ	1161 – 1164	Combined sources	4
Beta strandⁱ	1166 – 1174	Combined sources	9
Beta strandⁱ	1180 – 1185	Combined sources	6

Show more details

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2W18	X-ray	1.90	A	835-1186	[»]
	3EU7	X-ray	2.20	A	835-1186	[»]
ProteinModelPortalⁱ	Q86YC2
SMRⁱ	Q86YC2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q86YC2

EvolutionaryTraceⁱ

Q86YC2

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	854 – 915	WD 1Add BLAST	62
Repeatⁱ	917 – 961	WD 2Add BLAST	45
Repeatⁱ	962 – 1009	WD 3Add BLAST	48
Repeatⁱ	1010 – 1052	WD 4Add BLAST	43
Repeatⁱ	1058 – 1109	WD 5Add BLAST	52
Repeatⁱ	1115 – 1153	WD 6Add BLAST	39
Repeatⁱ	1155 – 1186	WD 7Add BLAST	32

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 579	DNA-binding (with the preference D loop > dsDNA > ssDNA)Add BLAST	579
Regionⁱ	1 – 319	Interaction with BRCA11 PublicationAdd BLAST	319
Regionⁱ	1 – 200	Interaction with RAD51Add BLAST	200
Regionⁱ	1 – 160	Required for its oligomerization and is important for its focal concentration at DNA damage sitesAdd BLAST	160
Regionⁱ	395 – 446	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationAdd BLAST	52
Regionⁱ	775 – 1186	Required for interaction with POLH and POLH DNA synthesis stimulation1 PublicationAdd BLAST	412
Regionⁱ	853 – 1186	Interaction with RAD51, BRCA2 and POLH1 PublicationAdd BLAST	334

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	9 – 41	Sequence analysisAdd BLAST		33

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

eggNOGⁱ	ENOG410IIBP Eukaryota ENOG4111F80 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000014423
HOGENOMⁱ	HOG000115428
HOVERGENⁱ	HBG082102
InParanoidⁱ	Q86YC2
KEGG Orthology (KO) More...KOⁱ	K10897
OMAⁱ	QFLMPPE
Database of Orthologous Groups More...OrthoDBⁱ	710645at2759
PhylomeDBⁱ	Q86YC2
TreeFamⁱ	TF351544

Family and domain databases

Gene3Dⁱ	2.130.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR031920 PALB2_WD40 IPR015943 WD40/YVTN_repeat-like_dom_sf IPR036322 WD40_repeat_dom_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF16756 PALB2_WD40, 1 hit
SUPFAMⁱ	SSF50978 SSF50978, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

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

Q86YC2-1 [UniParc]FASTA Add to basket

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        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

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

I3L3R6	I3L3R6_HUMAN	Partner and localizer of BRCA2 Partner and localizer of BRCA2	PALB2	89	Annotation score:
H3BN63	H3BN63_HUMAN	Partner and localizer of BRCA2 Partner and localizer of BRCA2	PALB2 FLJ21816, hCG_1986920	891	Annotation score:
I3L2S5	I3L2S5_HUMAN	Partner and localizer of BRCA2 Partner and localizer of BRCA2	PALB2	30	Annotation score:
I3L1Z5	I3L1Z5_HUMAN	Partner and localizer of BRCA2 Partner and localizer of BRCA2	PALB2	43	Annotation score:

Sequence cautionⁱ

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

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_079842	18	K → R Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs138789658EnsemblClinVar.	1
Natural variantⁱVAR_079843	28	Y → 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_079844	35	L → 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_079845	37	R → H Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs202194596EnsemblClinVar.	1
Natural variantⁱVAR_066361	46	H → Y1 Publication	1
Natural variantⁱVAR_066362	219	D → G1 PublicationCorresponds to variant dbSNP:rs45594034EnsemblClinVar.	1
Natural variantⁱVAR_032959	309	I → V. Corresponds to variant dbSNP:rs3809683EnsemblClinVar.	1
Natural variantⁱVAR_066363	334	Y → C1 PublicationCorresponds to variant dbSNP:rs200620434EnsemblClinVar.	1
Natural variantⁱVAR_066364	337	L → S1 PublicationCorresponds to variant dbSNP:rs45494092EnsemblClinVar.	1
Natural variantⁱVAR_066365	414	R → Q1 PublicationCorresponds to variant dbSNP:rs749461008EnsemblClinVar.	1
Natural variantⁱVAR_066366	425	V → M1 PublicationCorresponds to variant dbSNP:rs576081828EnsemblClinVar.	1
Natural variantⁱVAR_066367	491	A → T1 PublicationCorresponds to variant dbSNP:rs577969558EnsemblClinVar.	1
Natural variantⁱVAR_066368	515	K → R1 PublicationCorresponds to variant dbSNP:rs515726072EnsemblClinVar.	1
Natural variantⁱVAR_066369	559	Q → R1 PublicationCorresponds to variant dbSNP:rs152451EnsemblClinVar.	1
Natural variantⁱVAR_066370	672	E → Q1 PublicationCorresponds to variant dbSNP:rs45532440EnsemblClinVar.	1
Natural variantⁱVAR_066371	712	A → V1 PublicationCorresponds to variant dbSNP:rs141458731EnsemblClinVar.	1
Natural variantⁱVAR_066372	728	F → L1 Publication	1
Natural variantⁱVAR_054150	864	P → S2 PublicationsCorresponds to variant dbSNP:rs45568339EnsemblClinVar.	1
Natural variantⁱVAR_066373	917	V → A1 PublicationCorresponds to variant dbSNP:rs763645981EnsemblClinVar.	1
Natural variantⁱVAR_066374	932	V → M1 PublicationCorresponds to variant dbSNP:rs45624036EnsemblClinVar.	1
Natural variantⁱVAR_066375	939	L → 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_066376	966	I → V1 PublicationCorresponds to variant dbSNP:rs786204248EnsemblClinVar.	1
Natural variantⁱVAR_066377	998	G → E May be associated with breast cancer susceptibility. 1 PublicationCorresponds to variant dbSNP:rs45551636EnsemblClinVar.	1
Natural variantⁱVAR_066378	1025	A → T1 PublicationCorresponds to variant dbSNP:rs746872839EnsemblClinVar.	1
Natural variantⁱVAR_066379	1043	G → 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_066380	1075	S → G1 Publication	1
Natural variantⁱVAR_066381	1105	V → A1 Publication	1
Natural variantⁱVAR_066382	1114	Q → H1 Publication	1
Natural variantⁱVAR_066383	1143	L → P May be associated with breast cancer susceptibility. 2 PublicationsCorresponds to variant dbSNP:rs62625284EnsemblClinVar.	1
Natural variantⁱVAR_066384	1170	H → 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS32406.1
NCBI Reference Sequences More...RefSeqⁱ	NP_078951.2, NM_024675.3
UniGeneⁱ	Hs.444664

Genome annotation databases

Ensemblⁱ	ENST00000261584; ENSP00000261584; ENSG00000083093
GeneIDⁱ	79728
KEGGⁱ	hsa:79728
UCSC genome browser More...UCSCⁱ	uc002dlx.2 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q86YC2	Truncated partner and localizer of BRCA2		HUMAN		638	UniRef100_Q86YC2
Truncated partner and localizer of BRCA2		HUMAN		349
Truncated partner and localizer of BRCA2		HUMAN		864
Truncated partner and localizer of BRCA2		HUMAN		702
Truncated partner and localizer of BRCA2		HUMAN		989

Protein	Similar proteins		Species	Score	Length	Source
Q86YC2	Truncated partner and localizer of BRCA2		HUMAN		638	UniRef90_Q86YC2
Partner and localizer of BRCA2		CERAT		1192
Partner and localizer of BRCA2		MANLE		1192
Partner and localizer of BRCA2		PANTR		1186
PALB2 isoform 3		PONAB		1186
+49

Protein	Similar proteins		Species	Score	Length	Source
Q86YC2	Truncated partner and localizer of BRCA2		HUMAN		638	UniRef50_Q86YC2
Partner and localizer of BRCA2		CERAT		1192
Partner and localizer of BRCA2		MANLE		1192
PALB2 isoform 3		PONAB		1186
Partner and localizer of BRCA2		GORGO		1186
+163

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
CCDSⁱ	CCDS32406.1
RefSeqⁱ	NP_078951.2, NM_024675.3
UniGeneⁱ	Hs.444664

3D structure databases

Select the link destinations: PDBeⁱ RCSB PDBⁱ PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2W18	X-ray	1.90	A	835-1186	[»]
	3EU7	X-ray	2.20	A	835-1186	[»]
ProteinModelPortalⁱ	Q86YC2
SMRⁱ	Q86YC2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	122843, 50 interactors
DIPⁱ	DIP-38427N
ELMⁱ	Q86YC2
IntActⁱ	Q86YC2, 36 interactors
MINTⁱ	Q86YC2
STRINGⁱ	9606.ENSP00000261584

PTM databases

iPTMnetⁱ	Q86YC2
PhosphoSitePlusⁱ	Q86YC2

Polymorphism and mutation databases

BioMutaⁱ	PALB2
DMDMⁱ	74727919

Proteomic databases

EPDⁱ	Q86YC2
jPOSTⁱ	Q86YC2
MaxQBⁱ	Q86YC2
PaxDbⁱ	Q86YC2
PeptideAtlasⁱ	Q86YC2
PRIDEⁱ	Q86YC2
ProteomicsDBⁱ	70395

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	79728
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000261584; ENSP00000261584; ENSG00000083093
GeneIDⁱ	79728
KEGGⁱ	hsa:79728
UCSCⁱ	uc002dlx.2 human

Organism-specific databases

CTDⁱ	79728
DisGeNETⁱ	79728
EuPathDBⁱ	HostDB:ENSG00000083093.9
GeneCardsⁱ	PALB2
GeneReviewsⁱ	PALB2
HGNCⁱ	HGNC:26144 PALB2
HPAⁱ	CAB014895 HPA057000
MalaCardsⁱ	PALB2
MIMⁱ	114480 phenotype 610355 gene 610832 phenotype 613348 phenotype
neXtProtⁱ	NX_Q86YC2
OpenTargetsⁱ	ENSG00000083093
Orphanetⁱ	1333 Familial pancreatic carcinoma 84 Fanconi anemia 145 Hereditary breast and ovarian cancer syndrome 227535 Hereditary breast cancer
PharmGKBⁱ	PA162398608
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IIBP Eukaryota ENOG4111F80 LUCA
GeneTreeⁱ	ENSGT00390000014423
HOGENOMⁱ	HOG000115428
HOVERGENⁱ	HBG082102
InParanoidⁱ	Q86YC2
KOⁱ	K10897
OMAⁱ	QFLMPPE
OrthoDBⁱ	710645at2759
PhylomeDBⁱ	Q86YC2
TreeFamⁱ	TF351544

Enzyme and pathway databases

Reactomeⁱ	R-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
SIGNORⁱ	Q86YC2

Miscellaneous databases

ChiTaRSⁱ	PALB2 human
EvolutionaryTraceⁱ	Q86YC2
GeneWikiⁱ	PALB2
GenomeRNAiⁱ	79728
Protein Ontology More...PROⁱ	PR:Q86YC2
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000083093 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExⁱ	HS_PALB2
ExpressionAtlasⁱ	Q86YC2 baseline and differential
Genevisibleⁱ	Q86YC2 HS

Family and domain databases

Gene3Dⁱ	2.130.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR031920 PALB2_WD40 IPR015943 WD40/YVTN_repeat-like_dom_sf IPR036322 WD40_repeat_dom_sf
Pfamⁱ	View protein in Pfam PF16756 PALB2_WD40, 1 hit
SUPFAMⁱ	SSF50978 SSF50978, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PALB2_HUMAN
Accessionⁱ	Q86YC2Primary (citable) accession number: Q86YC2 Secondary accession number(s): A6NIE1 , Q8N7Y6, Q8ND31, Q9H6W1
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
	Last sequence update:	June 1, 2003
	Last modified:	January 16, 2019
	This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM

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UniProtKB - Q86YC2 (PALB2_HUMAN)

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Partner and localizer of BRCA2

PALB2

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

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Keywords - Cellular componenti

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Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

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Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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Coiled coil

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Sequence databases

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PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

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Organism-specific databases

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Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ