Dgcr6 Gene Detail

Summary

• Symbol
  Dgcr6
• Name
  DiGeorge syndrome critical region gene 6

• Feature Type
  protein coding gene
• IDs
  MGI:1202877
  NCBI Gene: 13353
• Gene Overview
  MyGene.info: DGCR6

Location & Maps

• Sequence Map
  Chr16:18052860-18071632 bp, + strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    18773 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 16, 11.19 cM, cytoband B2
• Mapping Data
  10 experiments

Homology

• Human Ortholog
  DGCR6, DiGeorge syndrome critical region gene 6

• Vertebrate Orthologs
  4

• Human Ortholog
  DGCR6, DiGeorge syndrome critical region gene 6
  Orthology source: HGNC
• Links
  HGNC:2846

  NCBI Gene ID: 8214

  neXtProt AC: NX_Q14129

  UniProt: Q14129

  
  
• Chr Location
  22q11.21; chr22:18906223-18912088 (+)  GRCh38.p7

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• HomoloGene
  Vertebrate Homology Class 4152
  1 mouse;1 rat;1 chimpanzee;1 macaque, rhesus
  
• HCOP
  human homology predictions: DGCR6
• Gene Tree
  Dgcr6
  

Human Diseases

• Diseases
  1 with human DGCR6 associations

				Human Disease	Mouse Models
				velocardiofacial syndrome IDs velocardiofacial syndrome       DOID:12583 ICD10CM:Q93.81 ICD9CM:758.32 MESH:D004062 OMIM:192430 UMLS_CUI:C0220704

Click on a disease name to see all genes associated with that disease.

• References
  5 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  49 phenotype references
  

• All Mutations and Alleles
  12
• Targeted
  12
• Genomic Mutations
  9 involving Dgcr6
• Find Mice (IMSR)
  6 strains or lines available

Gene Ontology
(GO)
Classifications

• External Resources
  FuncBase

Expression

• Assay Results
  80
• Tissues
  60
• cDNA Data
  50
• Literature Summary
  5

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GENSAT
  GEO
  Expression Atlas
• Other Vertebrate Links
  ZFIN dgcr6

Interactions

• Dgcr6 interacts with 59 markers (Mir1a-1, Mir1a-2, Mir16-2, ...) View All

Sequences &
Gene Models

• All Sequences
  70
• RefSeq
  9
• UniProt
  6
• CCDS
  CCDS28016.1, CCDS79432.1, CCDS79433.1
• UniGene
  27155

• VEGA
  OTTMUSG00000028179 (Evidence)
• Ensembl
  ENSMUSG00000003531 (Evidence)
• NCBI Gene
  13353 (Evidence)

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000028179	VEGA Gene Model | MGI Sequence Detail	18773	C57BL/6J
transcript	OTTMUST00000069810	VEGA | MGI Sequence Detail	1415	Not Applicable
polypeptide	OTTMUSP00000035508	VEGA | MGI Sequence Detail	233	Not Applicable

Polymorphisms

• SNPs within 2kb
  48 from dbSNP Build 142

Protein
Information

• UniProt
  6 Sequences
• Protein Ontology
  PR:000006439 protein DGCR6
  (term hierarchy)
• InterPro Domains
  IPR010849 Gonadal family

Molecular
Reagents

• All nucleic 80

  Genomic 29

  cDNA 50

  Primer pair 1

  
  

  Microarray probesets 6

Other
Accession IDs

MGI:2146581

References

• Summaries
  All 79

  Developmental Gene Expression 5

  Diseases 5

  Phenotypes 49
• Earliest
  J:44451 Botta A, et al., Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. Mamm Genome. 1997 Dec;8(12):890-5
• Latest
  J:235604 Nilsson SR, et al., Assessing the Cognitive Translational Potential of a Mouse Model of the 22q11.2 Microdeletion Syndrome. Cereb Cortex. 2016 Oct;26(10):3991-4003