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Dgcr14
Gene Detail
Symbol

Name
ID
Dgcr14
DiGeorge syndrome critical region gene 14
MGI:107854
Synonyms
D16H22S1269E, Dgsi, ES2, Es2el
Feature Type
protein coding gene
Genetic Map
Chromosome 16
11.09 cM, cytoband B1-B3
Detailed Genetic Map ± 1 cM


Mapping data(15)
Sequence Map
Chr16:17900711-17911348 bp, - strand
From Ensembl annotation of GRCm38

  10638 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11184  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: Protein DGCR14
Gene Tree: Dgcr14

Human
homologs
Human Homolog DGCR14, DiGeorge syndrome critical region gene 14
NCBI Gene ID 8220
neXtProt AC  NX_Q96DF8
Human Synonyms  DGCR13, DGSH, DGS-H, DGSI, DGS-I, ES2, Es2el
Human Chr (Location)  22q11.21; chr22:19130279-19144677 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DGCR14
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(6) Targeted(7)
Genomic Mutations involving Dgcr14 (4)
Incidental mutations (data from Mutagenetix , APF )
Alleles Annotated to Human Diseases(2)   
Interactions
Dgcr14 interacts with 186 markers (Mir17, Mir18, Mir18b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Process mRNA processing, RNA splicing
Component catalytic step 2 spliceosome, nucleus, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (76)    Tissues (56)    Images (17)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 35
RT-PCR 41
cDNA source data(78)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(108) Genomic(27) cDNA(78) Primer pair(3)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000003527 (Evidence)
Entrez Gene27886 (Evidence)
UniGene256480
DFCITC1575477
DoTSDT.110730636, DT.531450
NIA Mouse Gene IndexU036851
Consensus CDS ProjectCCDS28013.1
International Mouse Knockout Project StatusDgcr14
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000003527 Ensembl Gene Model | MGI Sequence Detail 10638 C57BL/6J ±  kb
transcript ENSMUST00000003621 Ensembl | MGI Sequence Detail 2819 Not Applicable 
polypeptide ENSMUSP00000003621 Ensembl | MGI Sequence Detail 480 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(43 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR019148 Nuclear protein DGCR14
Protein Ontology PR:000006437 protein DGCR14
References
(Earliest) J:15242 Halford S, et al., Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet. 1993 Oct;2(10):1577-82
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(48)
Other
accession IDs
MGD-MRK-36431, MGI:2146439, MGI:892008

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
10/08/2014
MGI 5.20
The Jackson Laboratory