Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	85359
Gene name	DiGeorge syndrome critical region gene 6 like
Gene symbol	DGCR6L
Synonyms (NCBI Gene)	DGCR6
Chromosome	22
Chromosome location	22q11.21
Summary	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,

79 Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042610	hsa-miR-423-3p	CLASH	23622248
MIRT041878	hsa-miR-484	CLASH	23622248
MIRT724698	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT724697	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT724696	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT724695	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT724694	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT724693	hsa-miR-7152-3p	HITS-CLIP	19536157
MIRT724692	hsa-miR-589-5p	HITS-CLIP	19536157
MIRT724691	hsa-miR-146a-5p	HITS-CLIP	19536157
MIRT724690	hsa-miR-146b-5p	HITS-CLIP	19536157
MIRT724689	hsa-miR-7153-5p	HITS-CLIP	19536157
MIRT724688	hsa-miR-1254	HITS-CLIP	19536157
MIRT724687	hsa-miR-3116	HITS-CLIP	19536157
MIRT724686	hsa-miR-661	HITS-CLIP	19536157
MIRT724685	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT724684	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT496572	hsa-miR-4753-5p	PAR-CLIP	22291592
MIRT496571	hsa-miR-3922-5p	PAR-CLIP	22291592
MIRT496570	hsa-miR-150-5p	PAR-CLIP	22291592
MIRT496569	hsa-miR-7106-3p	PAR-CLIP	22291592
MIRT496568	hsa-miR-6772-3p	PAR-CLIP	22291592
MIRT724698	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT724697	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT724696	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT724695	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT724694	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT724693	hsa-miR-7152-3p	HITS-CLIP	19536157
MIRT724692	hsa-miR-589-5p	HITS-CLIP	19536157
MIRT724691	hsa-miR-146a-5p	HITS-CLIP	19536157
MIRT724690	hsa-miR-146b-5p	HITS-CLIP	19536157
MIRT724689	hsa-miR-7153-5p	HITS-CLIP	19536157
MIRT724688	hsa-miR-1254	HITS-CLIP	19536157
MIRT724687	hsa-miR-3116	HITS-CLIP	19536157
MIRT724686	hsa-miR-661	HITS-CLIP	19536157
MIRT724685	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT724684	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT496572	hsa-miR-4753-5p	PAR-CLIP	22291592
MIRT496571	hsa-miR-3922-5p	PAR-CLIP	22291592
MIRT496570	hsa-miR-150-5p	PAR-CLIP	22291592
MIRT496569	hsa-miR-7106-3p	PAR-CLIP	22291592
MIRT496568	hsa-miR-6772-3p	PAR-CLIP	22291592
MIRT1976459	hsa-miR-1245b-3p	CLIP-seq
MIRT1976460	hsa-miR-1909	CLIP-seq
MIRT1976461	hsa-miR-214	CLIP-seq
MIRT1976462	hsa-miR-2277-3p	CLIP-seq
MIRT1976463	hsa-miR-296-3p	CLIP-seq
MIRT1976464	hsa-miR-3120-3p	CLIP-seq
MIRT1976465	hsa-miR-3619-5p	CLIP-seq
MIRT1976466	hsa-miR-4279	CLIP-seq
MIRT1976467	hsa-miR-4291	CLIP-seq
MIRT1976468	hsa-miR-455-5p	CLIP-seq
MIRT1976469	hsa-miR-4640-3p	CLIP-seq
MIRT1976470	hsa-miR-4716-3p	CLIP-seq
MIRT1976471	hsa-miR-4764-5p	CLIP-seq
MIRT1976472	hsa-miR-514	CLIP-seq
MIRT1976473	hsa-miR-514b-3p	CLIP-seq
MIRT1976474	hsa-miR-625	CLIP-seq
MIRT1976475	hsa-miR-761	CLIP-seq
MIRT1976476	hsa-miR-922	CLIP-seq
MIRT1976459	hsa-miR-1245b-3p	CLIP-seq
MIRT1976460	hsa-miR-1909	CLIP-seq
MIRT1976461	hsa-miR-214	CLIP-seq
MIRT1976462	hsa-miR-2277-3p	CLIP-seq
MIRT1976463	hsa-miR-296-3p	CLIP-seq
MIRT1976464	hsa-miR-3120-3p	CLIP-seq
MIRT1976465	hsa-miR-3619-5p	CLIP-seq
MIRT2211860	hsa-miR-3663-5p	CLIP-seq
MIRT1976466	hsa-miR-4279	CLIP-seq
MIRT1976467	hsa-miR-4291	CLIP-seq
MIRT1976470	hsa-miR-4716-3p	CLIP-seq
MIRT1976472	hsa-miR-514	CLIP-seq
MIRT1976473	hsa-miR-514b-3p	CLIP-seq
MIRT1976475	hsa-miR-761	CLIP-seq
MIRT1976476	hsa-miR-922	CLIP-seq
MIRT2515613	hsa-miR-3127-3p	CLIP-seq
MIRT2515614	hsa-miR-3136-3p	CLIP-seq
MIRT2515615	hsa-miR-4680-5p	CLIP-seq
MIRT2515616	hsa-miR-4712-3p	CLIP-seq

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22458338, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA

MIM	HGNC	e!Ensembl
609459	18551	ENSG00000128185

Q9BY27

Protein name

Protein DGCR6L (DiGeorge syndrome critical region 6-like protein)

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: 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:0000269|PubMed:11157784, ECO:0000269|PubMed:15821931}.

Sequence

MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLSYTTLSDLALALLDGTV
FEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQALRQKHQEAQQACRPHNLPVVQAAQQ
RELEAVEHRIREEQRAMDQKIILELDRKVADQQSTLEKAGVAGFYVTTNPQELMLQMNLL
ELIRKLQQRGCRAGNAALGLGGPWQSPAAQCDQKGSPVPP

Sequence length

220

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Prostate cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (36)
Anxiety	Anxiety disorder	Pubtator	22832905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	22832905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	22832905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	26978485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	26978485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26978485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19736351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	33707356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	15333760, 15821931, 20036641, 8733130, 9605865		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	19420922, 22832905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	33707356	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	24345872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	11891283, 11959925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11891283, 15274030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	11891283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	15821931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	15333760, 20036641, 8733130, 9605865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	33707356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral primary pulmonary dysgenesis	Pulmonary dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with DGCR6L across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for DGCR6L.

Diseases Linked via Similar Genes Diseases curated for genes most similar to DGCR6L (see Related Genes above), that are NOT already directly curated for DGCR6L itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to DGCR6L.

DGCR6L (DiGeorge syndrome critical region gene 6 like)

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