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

Gene ID: 79728, updated on 11-Sep-2014
Official Symbol
PALB2provided by HGNC
Official Full Name
partner and localizer of BRCA2provided by HGNC
Primary source
HGNC:HGNC:26144
See related
Ensembl:ENSG00000083093; HPRD:07966; MIM:610355; Vega:OTTHUMG00000177097
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
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]
See PALB2 in Epigenomics, MapViewer
Location:
16p12.2
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (23603162..23641357, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23614481..23652678, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa Neighboring gene dynactin 5 (p25) Neighboring gene polo-like kinase 1 Neighboring gene endoplasmic reticulum to nucleus signaling 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cancer predisposition
MedGen: CN120573 GeneReviews: Not available
Compare labs
Familial cancer of breast Compare labs
Fanconi anemia, complementation group N
MedGen: C1835817 OMIM: 610832 GeneReviews: Fanconi Anemia
Compare labs
Pancreatic cancer 3
MedGen: C3150547 OMIM: 613348 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
NHGRI GWA Catalog
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Fanconi Anemia pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21816, DKFZp667I166, DKFZp686E1054

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
partner and localizer of BRCA2
Names
partner and localizer of BRCA2

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 

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

mRNA and Protein(s)

  1. NM_024675.3NP_078951.2  partner and localizer of BRCA2

    See proteins identical to NP_078951.2

    Status: REVIEWED

    Source sequence(s)
    BE670820, BX647130, DA192828
    Consensus CDS
    CCDS32406.1
    UniProtKB/Swiss-Prot
    Q86YC2
    Related
    ENSP00000261584, OTTHUMP00000255811, ENST00000261584, OTTHUMT00000435287

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    23603162..23641357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    21704596..21742312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    24626195..24664406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)