LOCUS       NM_024675               4008 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens partner and localizer of BRCA2 (PALB2), transcript
            variant 1, mRNA.
ACCESSION   NM_024675
VERSION     NM_024675.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4008)
  AUTHORS   Li,J., He,P., Cai,Q., Chen,L., Wang,Y., Cai,W., Qiu,Y., Liu,S.,
            Guo,W., Chen,M., Lin,Y., Wang,C. and Fu,F.
  TITLE     Spectrum and characteristics of germline PALB2 pathogenic variants
            in 1556 early-onset breast cancer patients in China
  JOURNAL   J Cancer Res Clin Oncol 150 (6), 322 (2024)
   PUBMED   38914840
  REMARK    GeneRIF: Spectrum and characteristics of germline PALB2 pathogenic
            variants in 1556 early-onset breast cancer patients in China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4008)
  AUTHORS   Tuppurainen,H., Laurila,N., Natynki,M., Eshraghi,L., Tervasmaki,A.,
            Erichsen,L., Sorensen,C.S., Pylkas,K., Winqvist,R. and Peltoketo,H.
  TITLE     PALB2-mutated human mammary cells display a broad spectrum of
            morphological and functional abnormalities induced by increased
            TGFbeta signaling
  JOURNAL   Cell Mol Life Sci 81 (1), 173 (2024)
   PUBMED   38597967
  REMARK    GeneRIF: PALB2-mutated human mammary cells display a broad spectrum
            of morphological and functional abnormalities induced by increased
            TGFbeta signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4008)
  AUTHORS   Infante,M., Arranz-Ledo,M., Lastra,E., Olaverri,A., Ferreira,R.,
            Orozco,M., Hernandez,L., Martinez,N. and Duran,M.
  TITLE     Profiling of the genetic features of patients with breast, ovarian,
            colorectal and extracolonic cancers: Association to CHEK2 and PALB2
            germline mutations
  JOURNAL   Clin Chim Acta 552, 117695 (2024)
   PUBMED   38061684
  REMARK    GeneRIF: Profiling of the genetic features of patients with breast,
            ovarian, colorectal and extracolonic cancers: Association to CHEK2
            and PALB2 germline mutations.
REFERENCE   4  (bases 1 to 4008)
  AUTHORS   Wilcox,N., Dumont,M., Gonzalez-Neira,A., Carvalho,S., Joly
            Beauparlant,C., Crotti,M., Luccarini,C., Soucy,P., Dubois,S.,
            Nunez-Torres,R., Pita,G., Gardner,E.J., Dennis,J., Alonso,M.R.,
            Alvarez,N., Baynes,C., Collin-Deschesnes,A.C., Desjardins,S.,
            Becher,H., Behrens,S., Bolla,M.K., Castelao,J.E., Chang-Claude,J.,
            Cornelissen,S., Dork,T., Engel,C., Gago-Dominguez,M., Guenel,P.,
            Hadjisavvas,A., Hahnen,E., Hartman,M., Herraez,B., Jung,A.,
            Keeman,R., Kiechle,M., Li,J., Loizidou,M.A., Lush,M.,
            Michailidou,K., Panayiotidis,M.I., Sim,X., Teo,S.H., Tyrer,J.P.,
            van der Kolk,L.E., Wahlstrom,C., Wang,Q., Perry,J.R.B., Benitez,J.,
            Schmidt,M.K., Schmutzler,R.K., Pharoah,P.D.P., Droit,A.,
            Dunning,A.M., Kvist,A., Devilee,P., Easton,D.F. and Simard,J.
  CONSRTM   SGBCC Investigators
  TITLE     Exome sequencing identifies breast cancer susceptibility genes and
            defines the contribution of coding variants to breast cancer risk
  JOURNAL   Nat Genet 55 (9), 1435-1439 (2023)
   PUBMED   37592023
  REMARK    GeneRIF: Exome sequencing identifies breast cancer susceptibility
            genes and defines the contribution of coding variants to breast
            cancer risk.
            Erratum:[Nat Genet. 2023 Nov;55(11):2009. doi:
            10.1038/s41588-023-01549-x.. PMID: 37752376]
REFERENCE   5  (bases 1 to 4008)
  AUTHORS   Ducy,M., Sesma-Sanz,L., Guitton-Sert,L., Lashgari,A., Gao,Y.,
            Brahiti,N., Rodrigue,A., Margaillan,G., Caron,M.C., Cote,J.,
            Simard,J. and Masson,J.Y.
  TITLE     The Tumor Suppressor PALB2: Inside Out
  JOURNAL   Trends Biochem Sci 44 (3), 226-240 (2019)
   PUBMED   30638972
  REMARK    Review article
REFERENCE   6  (bases 1 to 4008)
  AUTHORS   Rahman,N., Seal,S., Thompson,D., Kelly,P., Renwick,A., Elliott,A.,
            Reid,S., Spanova,K., Barfoot,R., Chagtai,T., Jayatilake,H.,
            McGuffog,L., Hanks,S., Evans,D.G., Eccles,D., Easton,D.F. and
            Stratton,M.R.
  CONSRTM   Breast Cancer Susceptibility Collaboration (UK)
  TITLE     PALB2, which encodes a BRCA2-interacting protein, is a breast
            cancer susceptibility gene
  JOURNAL   Nat Genet 39 (2), 165-167 (2007)
   PUBMED   17200668
  REMARK    GeneRIF: The results show that PALB2 is a breast cancer
            susceptibility gene and further demonstrate the close relationship
            of the Fanconi anemia-DNA repair pathway and breast cancer
            predisposition.
REFERENCE   7  (bases 1 to 4008)
  AUTHORS   Xia,B., Sheng,Q., Nakanishi,K., Ohashi,A., Wu,J., Christ,N.,
            Liu,X., Jasin,M., Couch,F.J. and Livingston,D.M.
  TITLE     Control of BRCA2 cellular and clinical functions by a nuclear
            partner, PALB2
  JOURNAL   Mol Cell 22 (6), 719-729 (2006)
   PUBMED   16793542
  REMARK    GeneRIF: PALB2 colocalizes with BRCA2 in nuclear foci, promotes its
            localization and stability in key nuclear structures (e.g.,
            chromatin and nuclear matrix), and enables its recombinational
            repair and checkpoint functions
            GeneRIF: FLJ21816 has been identified as a major binding protein of
            the breast cancer susceptibility protein BRCA2 and named 'PALB2'.
REFERENCE   8  (bases 1 to 4008)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (bases 1 to 4008)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (bases 1 to 4008)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647130.1 and BE670820.1.
            
            On Aug 31, 2019 this sequence version replaced NM_024675.3.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647130.1, BC044254.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261584.9/ ENSP00000261584.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3657              BX647130.1         1-3657
            3658-4008           BE670820.1         15-365              c
FEATURES             Location/Qualifiers
     source          1..4008
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..4008
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /note="partner and localizer of BRCA2"
                     /db_xref="GeneID:79728"
                     /db_xref="HGNC:HGNC:26144"
                     /db_xref="MIM:610355"
     exon            1..201
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..3714
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mutant partner and localizer of BRCA2"
                     /codon_start=1
                     /product="partner and localizer of BRCA2 isoform 1"
                     /protein_id="NP_078951.2"
                     /db_xref="CCDS:CCDS32406.1"
                     /db_xref="GeneID:79728"
                     /db_xref="HGNC:HGNC:26144"
                     /db_xref="MIM:610355"
                     /translation="MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKI
                     KHSIKKTVEEQDCLSQQDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDV
                     GPESFNPGDGPGGLPIQRTDDTQEHFPHRVSDPSGEQKQKLPSRRKKQQKRTFISQER
                     DCVFGTDSLRLSGKRLKEQEEISSKNPARSPVTEIRTHLLSLKSELPDSPEPVTEINE
                     DSVLIPPTAQPEKGVDTFLRRPNFTRATTVPLQTLSDSGSSQHLEHIPPKGSSELTTH
                     DLKNIRFTSPVSLEAQGKKMTVSTDNLLVNKAISKSGQLPTSSNLEANISCSLNELTY
                     NNLPANENQNLKEQNQTEKSLKSPSDTLDGRNENLQESEILSQPKSLSLEATSPLSAE
                     KHSCTVPEGLLFPAEYYVRTTRSMSNCQRKVAVEAVIQSHLDVKKKGFKNKNKDASKN
                     LNLSNEETDQSEIRMSGTCTGQPSSRTSQKLLSLTKVSSPAGPTEDNDLSRKAVAQAP
                     GRRYTGKRKSACTPASDHCEPLLPTSSLSIVNRSKEEVTSHKYQHEKLFIQVKGKKSR
                     HQKEDSLSWSNSAYLSLDDDAFTAPFHRDGMLSLKQLLSFLSITDFQLPDEDFGPLKL
                     EKVKSCSEKPVEPFESKMFGERHLKEGSCIFPEELSPKRMDTEMEDLEEDLIVLPGKS
                     HPKRPNSQSQHTKTGLSSSILLYTPLNTVAPDDNDRPTTDMCSPAFPILGTTPAFGPQ
                     GSYEKASTEVAGRTCCTPQLAHLKDSVCLASDTKQFDSSGSPAKPHTTLQVSGRQGQP
                     TCDCDSVPPGTPPPIESFTFKENQLCRNTCQELHKHSVEQTETAELPASDSINPGNLQ
                     LVSELKNPSGSCSVDVSAMFWERAGCKEPCIITACEDVVSLWKALDAWQWEKLYTWHF
                     AEVPVLQIVPVPDVYNLVCVALGNLEIREIRALFCSSDDESEKQVLLKSGNIKAVLGL
                     TKRRLVSSSGTLSDQQVEVMTFAEDGGGKENQFLMPPEETILTFAEVQGMQEALLGTT
                     IMNNIVIWNLKTGQLLKKMHIDDSYQASVCHKAYSEMGLLFIVLSHPCAKESESLRSP
                     VFQLIVINPKTTLSVGVMLYCLPPGQAGRFLEGDVKDHCAAAILTSGTIAIWDLLLGQ
                     CTALLPPVSDQHWSFVKWSGTDSHLLAGQKDGNIFVYHYS"
     exon            202..261
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            262..364
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            365..1837
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..2667
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2668..2739
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2740..2901
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2902..2987
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2988..3149
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3150..3266
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3267..3354
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3355..3503
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3504..4008
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3987..3992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /note="hexamer: AATAAA"
     polyA_site      4008
                     /gene="PALB2"
                     /gene_synonym="BROVCA5; FANCN; PNCA3"
                     /note="major polyA site"
ORIGIN      
        1 gcccgcgtgg gtcagctgat cgcgcactga gggtgcgatc ccgggctccc cattccttcc
       61 tggggcgcct ccccggccca gggccaactg ggtcccggtg tcggcaggcc tggggtcggc
      121 gacggctgct cttttcgttc tgtcgcctgc ccgatggacg agcctcccgg gaagcccctc
      181 agctgtgagg agaaggaaaa gttaaaggag aaattagcat tcttgaaaag ggaatacagc
      241 aagacactag cccgccttca gcgtgcccaa agagctgaaa agattaagca ttctattaag
      301 aaaacagtag aagaacaaga ttgtttgtct cagcaggatc tctcaccgca gctaaaacac
      361 tcagaaccta aaaataaaat atgtgtttat gacaagttac acatcaaaac ccatcttgat
      421 gaagaaactg gagaaaagac atctatcaca cttgatgttg ggcctgagtc ctttaaccct
      481 ggagatggcc caggaggatt acctatacaa agaacagatg acacccaaga acattttccc
      541 cacagggtca gtgaccctag tggtgagcaa aagcagaagc tgccaagcag aagaaagaag
      601 cagcagaaga ggacatttat ttcacaggag agagactgtg tctttggcac tgattcactc
      661 agattgtctg ggaaaagact aaaggaacag gaagaaatca gtagcaaaaa tcctgctaga
      721 tcaccagtaa ctgaaataag aactcacctt ttaagtctta aatctgaact tccagattct
      781 ccagaaccag ttacagaaat taatgaagac agtgtattaa ttccaccaac tgcccaacca
      841 gaaaaaggtg ttgatacatt cctaagaaga cctaatttca ccagggcgac tacagttcct
      901 ttacagactc tatcagatag cggtagtagt cagcaccttg aacacattcc tcctaaaggt
      961 agcagtgaac ttactactca cgacctaaaa aacattagat ttacttcacc tgtaagtttg
     1021 gaggcacaag gcaaaaaaat gactgtctct acagataacc tccttgtaaa taaagctata
     1081 agtaaaagtg gccaactgcc cacaagttct aatttagagg caaatatttc atgttctcta
     1141 aatgaactca cctacaataa cttaccagca aatgaaaacc aaaacttaaa agaacaaaat
     1201 caaacagaga aatctttaaa atctcccagt gacactcttg atggcaggaa tgaaaatctt
     1261 caggaaagtg agattctaag tcaacctaag agtcttagcc tggaagcaac ctctcctctt
     1321 tctgcagaaa aacattcttg cacagtgcct gaaggccttc tgtttcctgc agaatattat
     1381 gttagaacaa cacgaagcat gtccaattgc cagaggaaag tagccgtgga ggctgtcatt
     1441 cagagtcatt tggatgtcaa gaaaaaaggg tttaaaaata aaaataagga tgcaagtaaa
     1501 aatttaaacc tttccaatga ggaaactgac caaagtgaaa ttaggatgtc tggcacatgc
     1561 acaggacaac caagttcaag aacctctcag aaacttctct cattaactaa agtcagctct
     1621 cccgctgggc ccactgaaga taatgacttg tctaggaagg cagttgccca agcacctggt
     1681 agaagataca caggaaaaag aaaatcagcc tgcaccccag catcagatca ttgtgaacca
     1741 cttttgccaa cttctagcct gtcgattgtt aacaggtcca aggaagaagt cacctcacac
     1801 aaatatcagc acgaaaaatt atttattcaa gtgaaaggga agaaaagtcg tcatcaaaaa
     1861 gaggattccc tttcttggag taatagtgct tatttatcct tggatgatga tgctttcacg
     1921 gctccatttc atagggatgg aatgctgagt ttaaagcaac tactgtcttt tctcagtatc
     1981 acagactttc agttacctga tgaagacttt ggacctctta agcttgaaaa agtgaagtcc
     2041 tgctcagaaa aaccagtgga gccctttgag tcaaaaatgt ttggagagag acatcttaaa
     2101 gagggaagct gtatttttcc agaggaactg agtcctaaac gcatggatac agaaatggag
     2161 gacttagaag aggaccttat tgttctacca ggaaaatcac atcccaaaag gccaaactcg
     2221 caaagccagc atacaaagac gggcctttct tcatccatat tactttatac tcctttaaat
     2281 acggttgcgc ctgatgataa tgacaggcct accacagaca tgtgttcacc tgctttcccc
     2341 atcttaggta ctactccagc ctttggccct caaggctcct atgaaaaagc atctacagaa
     2401 gttgctggac gaacttgctg cacaccccaa cttgctcatt tgaaagactc agtctgtctt
     2461 gccagtgata ctaaacaatt cgacagttca ggcagcccag caaaaccaca taccaccctg
     2521 caagtgtcag gcaggcaagg acaacctacc tgtgactgtg actctgtccc gccaggaaca
     2581 cctccaccca ttgagtcatt cacttttaaa gaaaatcagc tctgtagaaa cacatgccag
     2641 gagctgcata aacattccgt cgaacagact gaaacagcag agcttcctgc ttctgatagc
     2701 ataaacccag gcaacctaca attggtttca gagttaaaga atccttcagg ttcctgttcc
     2761 gtagatgtga gtgccatgtt ttgggaaaga gccggttgta aagagccatg tatcataact
     2821 gcttgcgaag atgtagtttc tctttggaaa gctctggatg cttggcagtg ggaaaaactt
     2881 tatacctggc acttcgcaga ggttccagta ttacagatag ttccagtgcc tgatgtgtat
     2941 aatctcgtgt gtgtagcttt gggaaatttg gaaatcagag agatcagggc attgttttgt
     3001 tcctctgatg atgaaagtga aaagcaagta ctactgaagt ctggaaatat aaaagctgtg
     3061 cttggcctga caaagaggag gctagttagt agcagtggga ccctttctga tcaacaagta
     3121 gaagtcatga cgtttgcaga agatggagga ggcaaagaaa accaattttt gatgccccct
     3181 gaggagacta tactaacttt tgctgaggtc caagggatgc aagaagctct gcttggtact
     3241 actattatga acaacattgt tatttggaat ttaaaaactg gtcaactcct gaaaaagatg
     3301 cacattgatg attcttacca agcttcagtc tgtcacaaag cctattctga aatggggctt
     3361 ctctttattg tcctgagtca tccctgtgcc aaagagagtg agtcgttgcg aagccctgtg
     3421 tttcagctca ttgtgattaa ccctaagacg actctcagcg tgggtgtgat gctgtactgt
     3481 cttcctccag ggcaggctgg caggttcctg gaaggtgacg tgaaagatca ctgtgcagca
     3541 gcaatcttga cttctggaac aattgccatt tgggacttac ttctcggtca gtgtactgcc
     3601 ctcctcccac ctgtctctga ccaacattgg tcttttgtga aatggtcggg tacagactct
     3661 catttgctgg ctggacaaaa agatggaaat atatttgtat accactattc ataagttagg
     3721 gtaaagtgaa aacacaattt tctggatata ttgggcctct tagtattttt tggagtttta
     3781 aatataaagg agaatatctg aatgacactt aaaatgattg cttgtttatg tccagacaga
     3841 cttatttttt attctaatga tggtagcacc actgatcttg gatgtacatt tatgtatact
     3901 ttgagaaaaa gggttttagg ttgatttttg taatttccca catttgtaca tgtgctttta
     3961 aaggtgtaca taaagcttca aatggcaata aatatttatt tttataca
//
