Palb2 partner and localizer of BRCA2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Palb2provided by MGI
Official Full Name: partner and localizer of BRCA2provided by MGI
Primary source: MGI:MGI:3040695
See related: Ensembl:ENSMUSG00000044702 AllianceGenome:MGI:3040695
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable DNA binding activity. Acts upstream of or within several processes, including chordate embryonic development; mesoderm development; and post-anal tail morphogenesis. Predicted to be located in nuclear speck. Predicted to be part of DNA repair complex. Predicted to be active in nucleoplasm. Is expressed in several structures, including adrenal gland; alimentary system; brain; genitourinary system; and immune system. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group N; female breast cancer; hereditary breast ovarian cancer syndrome; and pancreatic cancer. Orthologous to human PALB2 (partner and localizer of BRCA2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 3.4), liver E14 (RPKM 3.4) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F2; 7 65.42 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (121706485..121732203, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (122107262..122132980, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disrupted BRCA1-PALB2 interaction induces tumor immunosuppression and T-lymphocyte infiltration in HCC through cGAS-STING pathway.
Title: Disrupted BRCA1-PALB2 interaction induces tumor immunosuppression and T-lymphocyte infiltration in HCC through cGAS-STING pathway.
Tumor suppressor PALB2 maintains redox and mitochondrial homeostasis in the brain and cooperates with ATG7/autophagy to suppress neurodegeneration.
Title: Tumor suppressor PALB2 maintains redox and mitochondrial homeostasis in the brain and cooperates with ATG7/autophagy to suppress neurodegeneration.
Individual deletion of Palb2, Brca1 or Brca2 genes in pancreas per se using Pdx1-Cre was insufficient to cause tumors, but it reduced pancreata size. Concurrent expression of mutant KrasG12D and p53R270H, with tumor suppressor inactivated strains in Palb2-KPC, Brca1-KPC or Brca2-KPC, accelerated pancreatic ductal adenocarcinoma (PDAC) development.
Title: Murine models for familial pancreatic cancer: Histopathology, latency and drug sensitivity among cancers of Palb2, Brca1 and Brca2 mutant mouse strains.
The tumor suppression mechanisms of the BRCA1-PALB2 DNA damage response pathway.
Title: Evidence of Intertissue Differences in the DNA Damage Response and the Pro-oncogenic Role of NF-κB in Mice with Disengaged BRCA1-PALB2 Interaction.
The findings demonstrate that RNF168 couples PALB2-dependent homologous recombination to H2A ubiquitylation to promote DNA repair and preserve genome integrity.
Title: A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation.
we describe a genetic approach to examine the functional significance of the interaction between BRCA2 and PALB2 by generating a knock-in mouse model of Brca2 carrying a single amino acid change (Gly25Arg, Brca2G25R) that disrupts this interaction. In addition, we have combined Brca2G25R homozygosity as well as hemizygosity with Palb2 and Trp53 heterozygosity .
Title: Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.
results underscore the in vivo importance of the PALB2-BRCA1 complex formation in DSB repair and male meiosis
Title: Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice.
Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
Title: Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
A key function for PALB2 is to interact with and to build up appropriate communication between BRCA1 and BRCA2.
Title: Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW742216 (e-PCR)
- UniSTS:208197

Palb2 (e-PCR), detects polymorphism
- UniSTS:548074

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner cell mass cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-anal tail morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of DNA repair complex	IEA Inferred from Electronic Annotation more info
part_of DNA repair complex	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 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.

mRNA and Protein(s)

NM_001081238.2 → NP_001074707.1 partner and localizer of BRCA2 isoform 1

See identical proteins and their annotated locations for NP_001074707.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC124379, BB061170, BC066139, BC066140, BQ560264

Consensus CDS

CCDS40117.1

UniProtKB/Swiss-Prot

Q3U0P1, Q6NZG9, Q7TMQ4, Q8CEA9

Related

ENSMUSP00000095675.4, ENSMUST00000098068.10

Conserved Domains (1) summary

pfam16756
Location:755 → 1102

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
NM_001289842.1 → NP_001276771.1 partner and localizer of BRCA2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC124379, BB757034, BC066139, BC066140, BQ560264

Consensus CDS

CCDS80797.1

UniProtKB/TrEMBL

D3YVU6

Related

ENSMUSP00000102076.2, ENSMUST00000106468.7

Conserved Domains (1) summary

pfam16756
Location:755 → 984

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
NM_001289843.1 → NP_001276772.1 partner and localizer of BRCA2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, initiates translation at a downstream start codon and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC124379, BB757034, BC066139, BC066140, BQ560264

UniProtKB/Swiss-Prot

Q3U0P1

Conserved Domains (1) summary

pfam16756
Location:471 → 700

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
NM_001289844.1 → NP_001276773.1 partner and localizer of BRCA2 isoform 4

See identical proteins and their annotated locations for NP_001276773.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 4, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

BB061170, BC066139, BC066140, BQ560264

Consensus CDS

CCDS72035.1

UniProtKB/Swiss-Prot

Q3U0P1

Related

ENSMUSP00000102077.2, ENSMUST00000106469.8

Conserved Domains (1) summary

pfam16756
Location:392 → 739

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
NM_001289845.1 → NP_001276774.1 partner and localizer of BRCA2 isoform 5

See identical proteins and their annotated locations for NP_001276774.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks three consecutive exons in the coding region, compared to variant 1. It encodes isoform 5, which lacks an internal in-frame segment and is shorter, compared to isoform 1.

Source sequence(s)

BB061170, BC066139, BC066140, BQ560264

Consensus CDS

CCDS80796.1

UniProtKB/TrEMBL

Q80VS5

Related

ENSMUSP00000063514.7, ENSMUST00000063587.13

Conserved Domains (1) summary

pfam16756
Location:36 → 382

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

121706485..121732203 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011241755.4 → XP_011240057.1 partner and localizer of BRCA2 isoform X1

Conserved Domains (1) summary

pfam16756
Location:471 → 818

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

RNA

XR_869708.1 RNA Sequence
XR_003946463.1 RNA Sequence
XR_003946462.1 RNA Sequence
XR_003946461.1 RNA Sequence
XR_003946464.1 RNA Sequence
XR_004934089.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172744.1: Suppressed sequence

Description

NM_172744.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.