• Gene id: 85359

Gene Summary

• Gene Symbol: DGCR6L   Gene   UCSC   Ensembl
• Aliases: DGCR6
• Gene name: DiGeorge syndrome critical region gene 6 like
• Alternate names: protein DGCR6L, diGeorge syndrome critical region 6-like protein,
• Gene location: 22q11.21 (56909259: 56928899)     Exons: 11     NC_000005.10
• Gene summary(Entrez): This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein,
• OMIM: 609459

Protein Summary

• Protein general information: Q9BY27  
  • Name: Protein DGCR6L (DiGeorge syndrome critical region 6 like protein)
  • Length: 220  
  • Mass: 24932
  • Tissue specificity: Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain. {ECO
• Sequence:

  MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLSYTTLSDLALALLDGTVFEIVQGLLEIQHLTE
  KSLYNQRLRLQNEHRVLRQALRQKHQEAQQACRPHNLPVVQAAQQRELEAVEHRIREEQRAMDQKIILELDRKVA
  DQQSTLEKAGVAGFYVTTNPQELMLQMNLLELIRKLQQRGCRAGNAALGLGGPWQSPAAQCDQKGSPVPP

• Structural information:
  • Interpro: IPR010849  
  • STRING: ENSP00000248879
• Other Databases: GeneCards:  DGCR6L  Malacards:  DGCR6L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881