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Plxnd1 Gene Detail
Summary
  • Symbol
    Plxnd1
  • Name
    plexin D1
  • Synonyms
    6230425C21Rik, b2b1863Clo, b2b553Clo
  • Feature Type
    protein coding gene
  • IDs
    MGI:2154244
    NCBI Gene: 67784
  • Gene Overview
    MyGene.info: PLXND1
Location & Maps
more
  • Sequence Map
    Chr6:115954811-115995005 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      40195 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 53.72 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PLXND1, plexin D1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PLXND1, plexin D1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PLEXD1
  • Links
    NCBI Gene ID: 23129
    neXtProt AC: NX_Q9Y4D7

  • Chr Location
    3q22.1; chr3:129555213-129606739 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Plxnd1 mouse models

Human Disease Mouse Models
       DiGeorge Syndrome; DGS   OMIM: 188400 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    60 phenotypes from 7 alleles in 13 genetic backgrounds
    2 phenotypes from multigenic genotypes
    43 images
    32 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
    11
  • Chemically induced (ENU)
    3
  • Spontaneous
    1
  • Targeted
    7
  • Genomic Mutations
    1 involving Plxnd1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    11
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
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
    66
  • Tissues
    40
  • cDNA Data
    94
  • Literature Summary
    31
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021239 VEGA Gene Model | MGI Sequence Detail 40195 C57BL/6J ±  kb
transcript OTTMUST00000050306 VEGA | MGI Sequence Detail 6907 Not Applicable  
polypeptide OTTMUSP00000023467 VEGA | MGI Sequence Detail 1925 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    283 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 96
    cDNA 95
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1915034, MGI:5316760, MGI:5476162
References
more
  • Summaries
    All 79
    Developmental Gene Expression 31
    Diseases 1
    Gene Ontology 11
    Phenotypes 32
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103
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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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory