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Dgcr2 Gene Detail
Summary
  • Symbol
    Dgcr2
  • Name
    DiGeorge syndrome critical region gene 2
  • Synonyms
    9930034O06Rik, Dgcr2, Dgsc, DGS-C, Idd, Lan, Sez12
  • Feature Type
    protein coding gene
  • IDs
    MGI:892866
    NCBI Gene: 13356
  • Gene Overview
    MyGene.info: DGCR2
Location & Maps
more
  • Sequence Map
    Chr16:17839482-17894145 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      54664 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DGCR2, DiGeorge syndrome critical region gene 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    DGCR2, DiGeorge syndrome critical region gene 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DGS-C, IDD, LAN, SEZ-12
  • Links
    NCBI Gene ID: 9993
    neXtProt AC: NX_P98153

  • Chr Location
    22q11.21; chr22:19036282-19122454 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 31292
    1 human;1 mouse;2 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: DGCR2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human DGCR2 associations

Human Disease Mouse Models
       Velocardiofacial Syndrome   OMIM: 192430
Click on a disease name to see all genes associated with that disease.

  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotype references
  • All Mutations and Alleles
    10
  • Targeted
    10
  • Genomic Mutations
    6 involving Dgcr2
  • Incidental Mutations
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 OTTMUSG00000037698 VEGA Gene Model | MGI Sequence Detail 54664 C57BL/6J ±  kb
transcript OTTMUST00000071606 VEGA | MGI Sequence Detail 4045 Not Applicable  
polypeptide OTTMUSP00000036732 VEGA | MGI Sequence Detail 549 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    220 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    9 Sequences
  • InterPro Domains
    IPR001304 C-type lectin
    IPR016187 C-type lectin fold
    IPR016186 C-type lectin-like
    IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
    IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
    IPR001007 VWFC domain
Molecular
Reagents
less
  • All nucleic 60
    Genomic 29
    cDNA 26
    Primer pair 5

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-36046, MGI:107478, MGI:2442365
References
more
  • Summaries
    All 51
    Developmental Gene Expression 10
    Diseases 5
    Gene Ontology 3
    Phenotypes 24
  • Earliest
    J:31864 Kajiwara K, et al., Molecular characterization of seizure-related genes isolated by differential screening. Biochem Biophys Res Commun. 1996 Feb 27;219(3):795-9
  • Latest
    J:213451 Karpinski BA, et al., Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech. 2014 Feb;7(2):245-57

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
04/26/2016
MGI 6.03
The Jackson Laboratory