Palb2
Gene Detail

Symbol Name ID

Palb2 partner and localizer of BRCA2 MGI:3040695

Feature Type

protein coding gene

Genetic Map

Chromosome 7

65.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr7:122107262-122132946 bp, - strand From VEGA annotation of GRCm38   25685 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:11652  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Partner and localizer of BRCA2
Gene Tree: Palb2

Human homologs

Human Homolog		PALB2, partner and localizer of BRCA2
NCBI Gene ID		79728
neXtProt AC		NX_Q86YC2
Human Synonyms		FANCN, PNCA3
Human Chr (Location)		16p12.2; chr16:23614483-23652678 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human PALB2

Alleles and phenotypes

All alleles(12) : Targeted(1) Gene trapped(11)
 

Mice homozygous for a null mutation display embryonic lethality with impaired inner cell mass proliferation, impaired gastrulation, absence of the amnion, somites and tail bud, and general improper organogenesis.

 

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	DNA recombination, DNA repair, ...
Component	nucleus
Function	DNA binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (6)    Tissues (4)   
Theiler Stages: 11, 13

Assay Type	Results
In situ reporter (knock in)	4
RT-PCR	2

cDNA source data(31)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(32) cDNA(31) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000022651 (Evidence)
Ensembl Gene Model	ENSMUSG00000044702 (Evidence)
Entrez Gene	233826 (Evidence)
UniGene	38348
DFCI	TC1582034, TC1586863, TC1596811, TC1613592
DoTS	DT.101382008, DT.102556174, DT.110997826, DT.110997828, DT.482675, DT.99846769, DT.99854689
NIA Mouse Gene Index	U029212
Consensus CDS Project	CCDS40117.1
International Mouse Knockout Project Status	Palb2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022651	VEGA Gene Model | MGI Sequence Detail	25685	C57BL/6J
transcript	OTTMUST00000054269	VEGA | MGI Sequence Detail	3750	Not Applicable
polypeptide	OTTMUSP00000025884	VEGA | MGI Sequence Detail	1104	Not Applicable

All sequences(64) RefSeq(3) UniProt(5)

Polymorphisms

SNPs(188 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017986	WD40-repeat-containing domain
InterPro	IPR015943	WD40/YVTN repeat-like-containing domain
Protein Ontology	PR:000012246	partner and localizer of BRCA2

References

(Earliest) J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
(Latest) J:171231 Bouwman P, et al., Loss of p53 partially rescues embryonic development of Palb2 knockout mice but does not foster haploinsufficiency of Palb2 in tumour suppression. J Pathol. 2011 May;224(1):10-21
All references(33)