DGCR6 (DiGeorge syndrome critical region gene 6)

Gene

• Entrez ID: 8214
• Gene name: DiGeorge syndrome critical region gene 6
• Gene symbol: DGCR6
• Synonyms (NCBI Gene): -
• Chromosome: 22
• Chromosome location: 22q11.21|22q11
• Summary: DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1976443	hsa-miR-1245b-3p	CLIP-seq
MIRT1976444	hsa-miR-1909	CLIP-seq
MIRT1976445	hsa-miR-214	CLIP-seq
MIRT1976446	hsa-miR-2277-3p	CLIP-seq
MIRT1976447	hsa-miR-296-3p	CLIP-seq
MIRT1976448	hsa-miR-3120-3p	CLIP-seq
MIRT1976449	hsa-miR-3619-5p	CLIP-seq
MIRT1976450	hsa-miR-4279	CLIP-seq
MIRT1976451	hsa-miR-4291	CLIP-seq
MIRT1976452	hsa-miR-4640-3p	CLIP-seq
MIRT1976453	hsa-miR-4716-3p	CLIP-seq
MIRT1976454	hsa-miR-514	CLIP-seq
MIRT1976455	hsa-miR-514b-3p	CLIP-seq
MIRT1976456	hsa-miR-625	CLIP-seq
MIRT1976457	hsa-miR-761	CLIP-seq
MIRT1976458	hsa-miR-922	CLIP-seq
MIRT1976443	hsa-miR-1245b-3p	CLIP-seq
MIRT1976444	hsa-miR-1909	CLIP-seq
MIRT1976445	hsa-miR-214	CLIP-seq
MIRT1976446	hsa-miR-2277-3p	CLIP-seq
MIRT1976447	hsa-miR-296-3p	CLIP-seq
MIRT1976448	hsa-miR-3120-3p	CLIP-seq
MIRT1976449	hsa-miR-3619-5p	CLIP-seq
MIRT2211859	hsa-miR-3663-5p	CLIP-seq
MIRT1976450	hsa-miR-4279	CLIP-seq
MIRT1976451	hsa-miR-4291	CLIP-seq
MIRT1976453	hsa-miR-4716-3p	CLIP-seq
MIRT1976454	hsa-miR-514	CLIP-seq
MIRT1976455	hsa-miR-514b-3p	CLIP-seq
MIRT1976457	hsa-miR-761	CLIP-seq
MIRT1976458	hsa-miR-922	CLIP-seq
MIRT2515609	hsa-miR-3127-3p	CLIP-seq
MIRT2515610	hsa-miR-3136-3p	CLIP-seq
MIRT2515611	hsa-miR-4680-5p	CLIP-seq
MIRT2515612	hsa-miR-4712-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0007155	Process	Cell adhesion	TAS	8733130
GO:0009887	Process	Animal organ morphogenesis	TAS	8733130
GO:0031012	Component	Extracellular matrix	TAS	8733130

Other IDs

• MIM: 601279
• HGNC: 2846
• e!Ensembl: ENSG00000183628

Protein

• UniProt ID: Q14129
• Protein name: Protein DGCR6 (DiGeorge syndrome critical region 6)
• Protein function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07324	DGCR6	2 → 195	DiGeorge syndrome critical region 6 (DGCR6) protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain. {ECO:0000269|PubMed:11157784, ECO:0000269|PubMed:15821931}.
• Sequence:

  MERYAGALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLSYTTLSDLALALLDGTV
  FEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQALRQKHQEAQQACRPHNLPVLQAAQQ
  RELEAVEHRIREEQRAMDQKIVLELDRKVADQQSTLEKAGVAGFYVTTNPQELMLQMNLL
  ELIRKLQQRGCWAGKAALGLGGPWQLPAAQCDQKGSPVPP

• Sequence length: 220

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VELOCARDIOFACIAL SYNDROME	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations