About   Help   FAQ
Parl Gene Detail
Summary
  • Symbol
    Parl
  • Name
    presenilin associated, rhomboid-like
  • Synonyms
    D16Ertd607e, PRO2207, Psarl, PSARL1, PSENIP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277152
    NCBI Gene: 381038
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:20098570-20121090 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 12.40 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    715 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277152
 protein coding gene Chr16:20098568-20121137 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022639
 protein coding gene Chr16:17591250-17613940 (-)
A/J MGP_AJ_G0022601
 protein coding gene Chr16:16754087-16776649 (-)
AKR/J MGP_AKRJ_G0022576
 protein coding gene Chr16:17392936-17415445 (-)
BALB/cJ MGP_BALBcJ_G0022605
 protein coding gene Chr16:16897700-16924646 (-)
C3H/HeJ MGP_C3HHeJ_G0022370
 protein coding gene Chr16:17550586-17573154 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023056
 protein coding gene Chr16:17925562-17949452 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020573
 protein coding gene Chr16:17436939-17460488 (-)
CAST/EiJ MGP_CASTEiJ_G0021900
 protein coding gene Chr16:17526369-17548835 (-)
CBA/J MGP_CBAJ_G0022342
 protein coding gene Chr16:18660752-18683319 (-)
DBA/2J MGP_DBA2J_G0022474
 protein coding gene Chr16:16681970-16704501 (-)
FVB/NJ MGP_FVBNJ_G0022449
 protein coding gene Chr16:16711858-16734466 (-)
LP/J MGP_LPJ_G0022541
 protein coding gene Chr16:17334332-17356957 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022469
 protein coding gene Chr16:18369431-18391981 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023067
 protein coding gene Chr16:17344823-17367390 (-)
PWK/PhJ MGP_PWKPhJ_G0021641
 protein coding gene Chr16:16927166-16950308 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021470
 protein coding gene Chr16:17145889-17168375 (-)
WSB/EiJ MGP_WSBEiJ_G0021944
 protein coding gene Chr16:17340214-17364265 (-)



Homology
more
  • Human Ortholog
    PARL, presenilin associated rhomboid like
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PARL, presenilin associated rhomboid like
  • Synonyms
    PRO2207, PSARL, PSARL1, PSENIP2, RHBDS1
  • Links
    NCBI Gene ID: 55486
    neXtProt AC: NX_Q9H300
    UniProt: Q9H300

  • Chr Location
    3q27.1
Human Diseases
more
  • Diseases
    1 with Parl mouse models; 5 with human PARL associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    46 phenotypes from 3 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    14 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.
Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    12
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
membraneless 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
    706
  • cDNA Data
    88
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 381038 NCBI Gene Model | MGI Sequence Detail 22521 C57BL/6J ±  kb
    transcript NM_001417573 RefSeq | MGI Sequence Detail 1414 ZRU/MplStud  
    polypeptide Q5XJY4 UniProt | EBI | MGI Sequence Detail 377 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      cDNA 88
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 12
      Phenotypes 14
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • 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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory