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Plekhd1 Gene Detail
Summary
  • Symbol
    Plekhd1
  • Name
    pleckstrin homology and coiled-coil domain containing D1
  • Synonyms
    3830431G21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036228
    NCBI Gene: 217682
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:80739375-80770990 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 36.96 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1083 from dbSNP Build 142
  • Strain Annotations
    16
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3036228
 protein coding gene Chr12:80739365-80770990 (+)
129S1/SvImJ ENSMUSG00200047974
 protein coding gene Chr12:72709447-72741076 (+)
A/J ENSMUSG00195030254
 protein coding gene Chr12:75403065-75434692 (+)
AKR/J ENSMUSG00220048656
 protein coding gene Chr12:73192428-73224063 (+)
BALB/cJ ENSMUSG00180023601
 protein coding gene Chr12:74373735-74405355 (+)
C3H/HeJ ENSMUSG00175038587
 protein coding gene Chr12:77535228-77566849 (+)
C57BL/6NJ ENSMUSG00215042271
 protein coding gene Chr12:73739186-73770812 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017900
 protein coding gene Chr12:75127854-75160048 (+)
CAST/EiJ no annotation
CBA/J ENSMUSG00210040008
 protein coding gene Chr12:73949524-73981154 (+)
DBA/2J ENSMUSG00185037401
 protein coding gene Chr12:75810265-75841890 (+)
FVB/NJ ENSMUSG00205026000
 protein coding gene Chr12:73548584-73580199 (+)
JF1/MsJ no annotation
LP/J ENSMUSG00230043747
 protein coding gene Chr12:82827545-82859169 (+)
NOD/ShiLtJ ENSMUSG00190032180
 protein coding gene Chr12:73005094-73036705 (+)
NZO/HlLtJ ENSMUSG00225051540
 protein coding gene Chr12:84880880-84912504 (+)
PWK/PhJ ENSLUMG00010023941
 protein coding gene Chr12:73806738-73838734 (+)
SPRET/EiJ no annotation
WSB/EiJ ENSIUOG00005041147
 protein coding gene Chr12:73622143-73653735 (+)



Homology
more
  • Human Ortholog
    PLEKHD1, pleckstrin homology and coiled-coil domain containing D1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLEKHD1, pleckstrin homology and coiled-coil domain containing D1
  • Synonyms
    UPF0639
  • Links
    NCBI Gene ID: 400224
    UniProt: A6NEE1

  • Chr Location
    14q24.1; chr14:69467744-69531551 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotype references
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    3
  • Gene trapped
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Plekhd1
  • Incidental Mutations
    APF , CvDC
  • Find Mice (IMSR)
    34 strains or lines available
Gene Ontology
(GO)
Classifications
less
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
Cellular Component

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
    637
  • Tissues
    4
  • cDNA Data
    15
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 217682 NCBI Gene Model | MGI Sequence Detail 31616 C57BL/6J ±  kb
transcript NM_001177503 RefSeq | MGI Sequence Detail 3527 C57BL/6  
polypeptide B2RPU2 UniProt | EBI | MGI Sequence Detail 505 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 2
References
more
  • Summaries
    All 28
    Developmental Gene Expression 1
    Phenotypes 10
  • Earliest
    J:142754 Hansen GM, et al., Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. 2008 Oct;18(10):1670-9
  • 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
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Send questions and comments to User Support. 		last database update
09/15/2026
MGI 6.29 		The Jackson Laboratory