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Palb2 Gene Detail
Summary
  • Symbol
    Palb2
  • Name
    partner and localizer of BRCA2
  • Feature Type
    protein coding gene
  • IDs
    MGI:3040695
    NCBI Gene: 233826
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:121706485-121732203 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 65.42 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    850 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3040695
 protein coding gene Chr7:121706485-121732208 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032951
 protein coding gene Chr7:126176044-126204076 (-)
A/J MGP_AJ_G0032934
 protein coding gene Chr7:122905895-122932384 (-)
AKR/J MGP_AKRJ_G0032866
 protein coding gene Chr7:126030947-126057984 (-)
BALB/cJ MGP_BALBcJ_G0032939
 protein coding gene Chr7:122595299-122626178 (-)
C3H/HeJ MGP_C3HHeJ_G0032649
 protein coding gene Chr7:125954440-125981215 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033445
 protein coding gene Chr7:131154941-131180918 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030417
 protein coding gene Chr7:124231375-124256607 (-)
CAST/EiJ MGP_CASTEiJ_G0031977
 protein coding gene Chr7:117735810-117763533 (-)
CBA/J MGP_CBAJ_G0032622
 protein coding gene Chr7:135557398-135585169 (-)
DBA/2J MGP_DBA2J_G0032774
 protein coding gene Chr7:120909288-120935848 (-)
FVB/NJ MGP_FVBNJ_G0032727
 protein coding gene Chr7:120759157-120787132 (-)
LP/J MGP_LPJ_G0032868
 protein coding gene Chr7:127618647-127644986 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032759
 protein coding gene Chr7:136932198-136957795 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033465
 protein coding gene Chr7:125039547-125065944 (-)
PWK/PhJ MGP_PWKPhJ_G0031685
 protein coding gene Chr7:113839109-113865325 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031531
 protein coding gene Chr7:111811259-111837258 (-)
WSB/EiJ MGP_WSBEiJ_G0032090
 protein coding gene Chr7:125941855-125967796 (-)



Homology
more
  • Human Ortholog
    PALB2, partner and localizer of BRCA2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PALB2, partner and localizer of BRCA2
  • Synonyms
    BROVCA5, FANCN, PNCA3
  • Links
    NCBI Gene ID: 79728
    neXtProt AC: NX_Q86YC2
    UniProt: Q86YC2

  • Chr Location
    16p12.2; chr16:23603160-23641321 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human PALB2 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 4 alleles in 4 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    23
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    761
  • Tissues
    37
  • cDNA Data
    12
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 233826 NCBI Gene Model | MGI Sequence Detail 25719 C57BL/6J ±  kb
    transcript NM_001081238 RefSeq | MGI Sequence Detail 3750 C57BL/6  
    polypeptide Q3U0P1 UniProt | EBI | MGI Sequence Detail 1104 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 12
      Primer pair 3

      Microarray probesets 4
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 23
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory