Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8214
Gene name Gene Name - the full gene name approved by the HGNC.	DiGeorge syndrome critical region gene 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DGCR6
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21\|22q11
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(35)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
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

MIM	HGNC	e!Ensembl
601279	2846	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

Interactions

View interactions

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Pierre-robin syndrome	Pierre Robin Syndrome	rs1057519389, rs1057518986
Proline dehydrogenase deficiency	Proline dehydrogenase deficiency	rs193919334, rs772562722
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	11891283
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Specific learning disorder	Specific learning disability			ClinVar

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Anxiety	Associate	22832905
Anxiety Disorders	Associate	22832905
Conotruncal cardiac defects	Associate	33707356
DiGeorge Syndrome	Associate	19420922, 22832905
DiGeorge Syndrome	Stimulate	33707356
Glomerulonephritis Membranous	Associate	24345872
Orofacial Cleft 1	Associate	26561393
Otofaciocervical Syndrome	Associate	26561393
Tetralogy of Fallot	Associate	33707356

DGCR6 (DiGeorge syndrome critical region gene 6)