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Pik3cd Gene Detail
Summary
  • Symbol
    Pik3cd
  • Name
    phosphatidylinositol 3-kinase catalytic delta polypeptide
  • Synonyms
    2410099E07Rik, 2610208K16Rik, p110delta
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098211
    NCBI Gene: 18707
  • Gene Overview
    MyGene.info: PIK3CD
Location & Maps
more
  • Sequence Map
    Chr4:149649168-149702571 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53404 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 80.15 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PIK3CD, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PIK3CD, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
    Orthology source: HGNC, HomoloGene
  • Synonyms
    APDS, IMD14, p110D, P110DELTA, PI3K
  • Links
    NCBI Gene ID: 5293
    neXtProt AC: NX_O00329

  • Chr Location
    1p36.2; chr1:9629889-9729114 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PIK3CD associations

Human Disease Mouse Models
       Immunodeficiency 14; IMD14   OMIM: 615513
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 6 alleles in 10 genetic backgrounds
    23 phenotypes from multigenic genotypes
    82 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.
  • All Mutations and Alleles
    19
  • Chemically induced (ENU)
    1
  • Gene trapped
    9
  • Targeted
    9
  • Genomic Mutations
    1 involving Pik3cd
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit impaired B and T cell antigen receptor signaling, reduced or ablated immune responses and decreased immunoglobulin levels. Mutants also develop inflammatory bowel disease.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010264 VEGA Gene Model | MGI Sequence Detail 53404 C57BL/6J ±  kb
transcript OTTMUST00000023877 VEGA | MGI Sequence Detail 4921 Not Applicable  
polypeptide OTTMUSP00000010948 VEGA | MGI Sequence Detail 1047 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    281 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 74
    cDNA 73
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
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MGI:1917688, MGI:1925744, MGI:2140589
References
more
  • Summaries
    All 129
    Developmental Gene Expression 8
    Gene Ontology 7
    Phenotypes 82
  • Earliest
    J:42042 Chantry D, et al., p110delta, a novel phosphatidylinositol 3-kinase catalytic subunit that associates with p85 and is expressed predominantly in leukocytes. J Biol Chem. 1997 Aug 1;272(31):19236-41
  • Latest
    J:227645 Yuzugullu H, et al., A PI3K p110beta-Rac signalling loop mediates Pten-loss-induced perturbation of haematopoiesis and leukaemogenesis. Nat Commun. 2015;6:8501

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory