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PALB2 partner and localizer of BRCA2 [ Homo sapiens (human) ]

Gene ID: 79728, updated on 21-May-2024

Summary

Official Symbol
PALB2provided by HGNC
Official Full Name
partner and localizer of BRCA2provided by HGNC
Primary source
HGNC:HGNC:26144
See related
Ensembl:ENSG00000083093 MIM:610355; AllianceGenome:HGNC:26144
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FANCN; PNCA3; BROVCA5
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]
Expression
Ubiquitous expression in testis (RPKM 4.0), esophagus (RPKM 2.7) and 25 other tissues See more
Orthologs
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Genomic context

See PALB2 in Genome Data Viewer
Location:
16p12.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23603165..23641310, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23878974..23917118, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23614486..23652631, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23568645-23569289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23569290-23569933 Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23605373-23605549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7281 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23651698-23651932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23653060-23653849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10585 Neighboring gene dynactin subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23698309-23698810 Neighboring gene polo like kinase 1 Neighboring gene endoplasmic reticulum to nucleus signaling 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Breast-ovarian cancer, familial, susceptibility to, 5
MedGen: C5830615 OMIM: 620442 GeneReviews: Not available
not available
Fanconi anemia complementation group N
MedGen: C1835817 OMIM: 610832 GeneReviews: Fanconi Anemia
Compare labs
Hereditary cancer-predisposing syndrome
MedGen: C0027672 GeneReviews: Not available
Compare labs
Pancreatic cancer, susceptibility to, 3
MedGen: C3150547 OMIM: 613348 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ21816, DKFZp667I166, DKFZp686E1054

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in mesoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of DNA repair complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
partner and localizer of BRCA2
Names
mutant partner and localizer of BRCA2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007406.1 RefSeqGene

    Range
    5001..43196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_308

mRNA and Protein(s)

  1. NM_001407296.1NP_001394225.1  partner and localizer of BRCA2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  2. NM_001407297.1NP_001394226.1  partner and localizer of BRCA2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  3. NM_001407298.1NP_001394227.1  partner and localizer of BRCA2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    Related
    ENSP00000513286.2, ENST00000697377.2
  4. NM_001407299.1NP_001394228.1  partner and localizer of BRCA2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC008870
    Related
    ENSP00000519076.1, ENST00000713774.1
  5. NM_001407300.1NP_001394229.1  partner and localizer of BRCA2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  6. NM_001407301.1NP_001394230.1  partner and localizer of BRCA2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    I3L1Z5
    Related
    ENSP00000459237.2, ENST00000566069.6
  7. NM_001407302.1NP_001394231.1  partner and localizer of BRCA2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  8. NM_001407304.1NP_001394233.1  partner and localizer of BRCA2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    H3BN63, I3L3R6
    Related
    ENSP00000513284.1, ENST00000697374.1
  9. NM_001407305.1NP_001394234.1  partner and localizer of BRCA2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    Consensus CDS
    CCDS92128.1
    UniProtKB/TrEMBL
    H3BN63, I3L3R6
  10. NM_001407306.1NP_001394235.1  partner and localizer of BRCA2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    H3BN63, I3L3R6
    Related
    ENSP00000454703.2, ENST00000568219.5
  11. NM_001407307.1NP_001394236.1  partner and localizer of BRCA2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  12. NM_001407308.1NP_001394237.1  partner and localizer of BRCA2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC008870
  13. NM_001407309.1NP_001394238.1  partner and localizer of BRCA2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC008870
  14. NM_001407310.1NP_001394239.1  partner and localizer of BRCA2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    A0A8V8TMK8
  15. NM_001407311.1NP_001394240.1  partner and localizer of BRCA2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    A0A8V8TMK8
    Related
    ENSP00000513285.1, ENST00000697376.1
  16. NM_001407312.1NP_001394241.1  partner and localizer of BRCA2 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  17. NM_001407313.1NP_001394242.1  partner and localizer of BRCA2 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
  18. NM_001407314.1NP_001394243.1  partner and localizer of BRCA2 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    A0A8V8TLC8
    Related
    ENSP00000513289.1, ENST00000697383.1
  19. NM_024675.4NP_078951.2  partner and localizer of BRCA2 isoform 1

    See identical proteins and their annotated locations for NP_078951.2

    Status: REVIEWED

    Source sequence(s)
    BE670820, BX647130
    Consensus CDS
    CCDS32406.1
    UniProtKB/Swiss-Prot
    A6NIE1, Q86YC2, Q8N7Y6, Q8ND31, Q9H6W1
    UniProtKB/TrEMBL
    A0AA52I2C1
    Related
    ENSP00000261584.4, ENST00000261584.9
    Conserved Domains (1) summary
    pfam16756
    Location:8371184
    PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    23603165..23641310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    23878974..23917118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)