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Plekhd1 Gene Detail
Summary
  • Symbol
    Plekhd1
  • Name
    pleckstrin homology domain containing, family D (with coiled-coil domains) member 1
  • Synonyms
    3830431G21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036228
    NCBI Gene: 217682
  • Alliance
    gene 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
    18
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 MGP_129S1SvImJ_G0019892
 protein coding gene Chr12:81084142-81115732 (+)
A/J MGP_AJ_G0019850
 protein coding gene Chr12:78134788-78166508 (+)
AKR/J MGP_AKRJ_G0019825
 protein coding gene Chr12:80269522-80301365 (+)
BALB/cJ MGP_BALBcJ_G0019829
 protein coding gene Chr12:78387165-78419121 (+)
C3H/HeJ MGP_C3HHeJ_G0019635
 protein coding gene Chr12:80739789-80771617 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020281
 protein coding gene Chr12:83449031-83480613 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017900
 protein coding gene Chr12:75127854-75160048 (+)
CAST/EiJ MGP_CASTEiJ_G0019185
 protein coding gene Chr12:75594410-75653501 (+)
CBA/J MGP_CBAJ_G0019606
 protein coding gene Chr12:86710873-86742423 (+)
DBA/2J MGP_DBA2J_G0019721
 protein coding gene Chr12:77745592-77777185 (+)
FVB/NJ MGP_FVBNJ_G0019707
 protein coding gene Chr12:76567103-76601339 (+)
LP/J MGP_LPJ_G0019793
 protein coding gene Chr12:81005860-81037418 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019746
 protein coding gene Chr12:89713506-89745333 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020316
 protein coding gene Chr12:79794452-79826016 (+)
PWK/PhJ MGP_PWKPhJ_G0018951
 protein coding gene Chr12:72137456-72170070 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018745
 protein coding gene Chr12:74310371-74368578 (+)
WSB/EiJ MGP_WSBEiJ_G0019238
 protein coding gene Chr12:80440766-80472238 (+)



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
    neXtProt AC: NX_A6NEE1
    UniProt: A6NEE1

  • Chr Location
    14q24.1; chr14:69467744-69531551 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotype references
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    2
  • Gene trapped
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Plekhd1
  • Incidental Mutations
    APF , CvDC
  • Find Mice (IMSR)
    36 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
    746
  • 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 25
    Developmental Gene Expression 1
    Phenotypes 8
  • 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
08/02/2024
MGI 6.24 		The Jackson Laboratory