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
• Alliance
  gene page
• Transcription Start Sites
  4 TSS

Location &
Maps

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

  View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

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

Strain
Comparison

• SNPs within 2kb
  48 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1202877	protein coding gene	Chr16:18052860-18071633 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022600	protein coding gene	Chr16:15245999-15267464 (+)
A/J	MGP_AJ_G0022561	protein coding gene	Chr16:14493214-14511885 (+)
AKR/J	MGP_AKRJ_G0022538	protein coding gene	Chr16:15058937-15077948 (+)
BALB/cJ	MGP_BALBcJ_G0022566	protein coding gene	Chr16:14642124-14661763 (+)
C3H/HeJ	MGP_C3HHeJ_G0022333	protein coding gene	Chr16:15224186-15248234 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023015	protein coding gene	Chr16:15507879-15532776 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020535	protein coding gene	Chr16:14549045-14567788 (+)
CAST/EiJ	MGP_CASTEiJ_G0021860	protein coding gene	Chr16:15112491-15130997 (+)
CBA/J	MGP_CBAJ_G0022302	protein coding gene	Chr16:16183604-16203447 (+)
DBA/2J	MGP_DBA2J_G0022434	protein coding gene	Chr16:14403737-14424607 (+)
FVB/NJ	MGP_FVBNJ_G0022409	protein coding gene	Chr16:14450285-14469005 (+)
LP/J	MGP_LPJ_G0022501	protein coding gene	Chr16:15035906-15056305 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022431	protein coding gene	Chr16:15855938-15879610 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023026	protein coding gene	Chr16:14994239-15012981 (+)
PWK/PhJ	MGP_PWKPhJ_G0021602	protein coding gene	Chr16:14669414-14688662 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021430	protein coding gene	Chr16:14959243-14977839 (+)
WSB/EiJ	MGP_WSBEiJ_G0021906	protein coding gene	Chr16:14979501-15000410 (+)

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

---

• 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_2006:758.32 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
  68 phenotype references
  

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

Gene Ontology
(GO)
Classifications

• External Resources
  FuncBase

Expression

• Assay Results
  80
• Tissues
  60
• cDNA Data
  51
• Literature Summary
  5

Images

Tissue x Stage Matrix

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

Interactions

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

Sequences &
Gene Models

• All Sequences
  75
• RefSeq
  10
• UniProt
  7
• CCDS
  CCDS28016.1, CCDS79432.1, CCDS79433.1
• UniGene
  27155

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

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000003531	Ensembl Gene Model | MGI Sequence Detail	18773	C57BL/6J
transcript	ENSMUST00000155387	Ensembl | MGI Sequence Detail	1415	Not Applicable
polypeptide	ENSMUSP00000123053	Ensembl | MGI Sequence Detail	233	Not Applicable

Protein
Information

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

Molecular
Reagents

• All nucleic 81

  Genomic 29

  cDNA 51

  Primer pair 1

  
  

  Microarray probesets 6

Other
Accession IDs

MGI:2146581

References

• Summaries
  All 99

  Developmental Gene Expression 5

  Diseases 5

  Phenotypes 68
• 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:279573 Fernandez A, et al., Mitochondrial Dysfunction Leads to Cortical Under-Connectivity and Cognitive Impairment. Neuron. 2019 Jun 19;102(6):1127-1142.e3

TSS for Dgcr6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137350	Chr16:18052864-18052881 (+)	13 bp
Tssr137351	Chr16:18052899-18052925 (+)	52 bp
Tssr137352	Chr16:18066416-18066459 (+)	13,578 bp
Tssr137353	Chr16:18066461-18066494 (+)	13,618 bp