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Plekha5 Gene Detail
Summary
  • Symbol
    Plekha5
  • Name
    pleckstrin homology domain containing, family A member 5
  • Synonyms
    2810431N21Rik, PEPP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923802
    NCBI Gene: 109135
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:140369780-140542836 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 70.34 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4609 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923802
 protein coding gene Chr6:140369358-140542836 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031448
 protein coding gene Chr6:145140057-145325108 (+)
A/J MGP_AJ_G0031423
 protein coding gene Chr6:139367263-139544096 (+)
AKR/J MGP_AKRJ_G0031351
 protein coding gene Chr6:143549641-143732379 (+)
BALB/cJ MGP_BALBcJ_G0031430
 protein coding gene Chr6:139219103-139394832 (+)
C3H/HeJ MGP_C3HHeJ_G0031152
 protein coding gene Chr6:143628544-143807780 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031892
 protein coding gene Chr6:149084847-149266887 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029022
 protein coding gene Chr6:138286384-138462050 (+)
CAST/EiJ MGP_CASTEiJ_G0030520
 protein coding gene Chr6:143176323-143359565 (+)
CBA/J MGP_CBAJ_G0031112
 protein coding gene Chr6:154748044-154957918 (+)
DBA/2J MGP_DBA2J_G0031269
 protein coding gene Chr6:138235546-138417042 (+)
FVB/NJ MGP_FVBNJ_G0031220
 protein coding gene Chr6:137023202-137200733 (+)
LP/J MGP_LPJ_G0031353
 protein coding gene Chr6:145258325-145445709 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031260
 protein coding gene Chr6:158659925-158838813 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031924
 protein coding gene Chr6:143381185-143559268 (+)
PWK/PhJ MGP_PWKPhJ_G0030247
 protein coding gene Chr6:136731213-136911409 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030071
 protein coding gene Chr6:141617313-141795885 (+)
WSB/EiJ MGP_WSBEiJ_G0030613
 protein coding gene Chr6:144035981-144219231 (+)



Homology
more
  • Human Ortholog
    PLEKHA5, pleckstrin homology domain containing A5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLEKHA5, pleckstrin homology domain containing A5
  • Synonyms
    PEPP-2, PEPP2
  • Links
    NCBI Gene ID: 54477
    neXtProt AC: NX_Q9HAU0
    UniProt: Q9HAU0

  • Chr Location
    12p12.3; chr12:19129669-19376400 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 2 alleles in 3 genetic backgrounds
    53 phenotypes from multigenic genotypes
    4 images
    142 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    5
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
    871
  • Tissues
    47
  • cDNA Data
    111
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030231 Ensembl Gene Model | MGI Sequence Detail 173057 C57BL/6J ±  kb
    transcript ENSMUST00000087622 Ensembl | MGI Sequence Detail 7382 Not Applicable  
    polypeptide ENSMUSP00000084904 Ensembl | MGI Sequence Detail 1269 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      15 Sequences
    • InterPro Domains
      IPR011993 PH-like domain superfamily
      IPR040392 PKHA4-7, PH domain
      IPR001849 Pleckstrin homology domain
      IPR001202 WW domain
      IPR036020 WW domain superfamily
    • GlyGen
      E9Q6H8 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 111
      cDNA 111

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1889819, MGI:2450303, MGI:3527252, MGI:3629683
    References
    more
    • Summaries
      All 172
      Developmental Gene Expression 5
      Gene Ontology 5
      Phenotypes 142
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:347585 Leon NY, et al., Y chromosome damage underlies testicular abnormalities in ATR-X syndrome. iScience. 2024 May 17;27(5):109629
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory