{ "uniprot_canonical_ac": "Q9BY27-1", "uniprot_ac": "Q9BY27", "uniprot_id": "DGC6L_HUMAN", "mass": { "chemical_mass": 24932.0, "monoisotopic_mass": 24932.0 }, "refseq": { "ac": "NP_150282", "name": "protein DGCR6L", "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, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282" }, "gene_names": [ { "name": "DGCR6L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9BY27", "id": "Q9BY27" }, { "name": "DGCR6L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282", "id": "NP_150282" }, { "name": "DGCR6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282", "id": "NP_150282" } ], "protein_names": [ { "name": "Protein DGCR6L", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9BY27" }, { "name": "DiGeorge syndrome critical region 6-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BY27" }, { "name": "diGeorge syndrome critical region 6-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282", "id": "NP_150282" }, { "name": "protein DGCR6L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282", "id": "NP_150282" } ], "function": [ { "annotation": "DGCR6L, a novel PAK4 interacting protein, regulated PAK4-mediated migration of human gastric cancer cells via LIMK1.", "evidence": [ { "database": "RefSeq", "id": "NP_150282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282" }, { "database": "PubMed", "id": "19778628", "url": "https://glygen.org/publication/PubMed/19778628" } ] }, { "annotation": "Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects. Erratum:[Transl Psychiatry. 2012;2:e124. Chakraborty, D [corrected to Das Chakraborty, R]] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_150282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282" }, { "database": "PubMed", "id": "22832905", "url": "https://glygen.org/publication/PubMed/22832905" } ] }, { "annotation": "May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY27", "url": "https://www.uniprot.org/uniprot/Q9BY27#function" } ] }, { "annotation": "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, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_150282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9BY27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BY27" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BY27" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY27", "url": "https://www.uniprot.org/uniprot/Q9BY27" } ], "common_name": "Human" } ], "gene": [ { "name": "DGCR6L", "url": "https://www.uniprot.org/uniprot/Q9BY27", "locus": { "chromosome": "22", "start_pos": 20314238, "end_pos": 20320080, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000128185", "url": "https://www.ensembl.org/id/ENSG00000128185" } ] } } ], "crossref": [ { "id": "ENSG00000128185", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128185", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "DGCR6L", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGCR6L", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "85359", "url": "https://www.ncbi.nlm.nih.gov/gene/85359", "database": "GeneID", 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"O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WIHEEQQ", "url": "https://omabrowser.org/oma/group/WIHEEQQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2913512at2759", "url": "http://www.orthodb.org/?query=2913512at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13054", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13054", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13054:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13054:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13054:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13054:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07324", "url": "http://pfam.xfam.org/family/PF07324", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9BY27", "url": "https://pharos.nih.gov/targets/Q9BY27", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9BY27", "url": "http://purl.obolibrary.org/obo/PR_Q9BY27", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_150282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B5MCQ4", "url": "https://www.uniprot.org/uniprot/B5MCQ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B5MCQ4-1", "url": "https://www.uniprot.org/uniprot/B5MCQ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCX1", "url": "https://www.uniprot.org/uniprot/F8WCX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCX1-1", "url": "https://www.uniprot.org/uniprot/F8WCX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BY27", "url": "https://www.uniprot.org/uniprot/Q9BY27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BY27-1", "url": "https://www.uniprot.org/uniprot/Q9BY27-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLSYTTLSDLALALLDGTVFEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQALRQKHQEAQQACRPHNLPVVQAAQQRELEAVEHRIREEQRAMDQKIILELDRKVADQQSTLEKAGVAGFYVTTNPQELMLQMNLLELIRKLQQRGCRAGNAALGLGGPWQSPAAQCDQKGSPVPP", "length": 220, "header": "sp|Q9BY27-1|DGC6L_HUMAN Isoform 1 of Protein DGCR6L OS=Homo sapiens OX=9606 GN=DGCR6L PE=1 SV=2 CANONICAL=Q9BY27-1" }, "isoforms": [ { "isoform_ac": "B5MCQ4-1", "url": "", "sequence": { "sequence": "MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSACPTPRSATWPWRFSTAPCSKSCRGYWRSSTSPKRACTTSACAYRTSTEAVEHRIREEQRAMDQKIILELDRKVADQQSTLEKAGVAGFYVTTNPQELMLQMNLLELIRKLQQRGCRAGNAALGLGGPWQSPAAQCDQKGSPVPP", "length": 182, "header": "tr|B5MCQ4-1|DGC6L_HUMAN Computationally mapped isoform of Protein DGCR6L OS=Homo sapiens OX=9606 GN=DGCR6L PE=1 SV=1 CANONICAL=Q9BY27-1" }, "locus": { "chromosome": "22", "start_pos": 20319988, "end_pos": 20314678, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405465.3", "url": "https://www.ensembl.org/id/ENST00000405465.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000386052.3", "url": "https://www.ensembl.org/id/ENSP00000386052.3" } ] } }, { "isoform_ac": "F8WCX1-1", "url": "", "sequence": { "sequence": "MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLSYTTLSDLALALLDGTVFEIVQGLLEIQHLTEKSLYNQRLRLQNEHRGRGTPDP", "length": 97, "header": "tr|F8WCX1-1|DGC6L_HUMAN Computationally mapped isoform of Protein DGCR6L OS=Homo sapiens OX=9606 GN=DGCR6L PE=1 SV=1 CANONICAL=Q9BY27-1" }, "locus": { "chromosome": "22", "start_pos": 20319988, "end_pos": 20315457, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443409.1", "url": "https://www.ensembl.org/id/ENST00000443409.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000403341.1", "url": "https://www.ensembl.org/id/ENSP00000403341.1" } ] } }, { "isoform_ac": "Q9BY27-1", "url": "", "sequence": { "sequence": "MERYAAALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLSYTTLSDLALALLDGTVFEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQALRQKHQEAQQACRPHNLPVVQAAQQRELEAVEHRIREEQRAMDQKIILELDRKVADQQSTLEKAGVAGFYVTTNPQELMLQMNLLELIRKLQQRGCRAGNAALGLGGPWQSPAAQCDQKGSPVPP", "length": 220, "header": "sp|Q9BY27-1|DGC6L_HUMAN Isoform 1 of Protein DGCR6L OS=Homo sapiens OX=9606 GN=DGCR6L PE=1 SV=2 CANONICAL=Q9BY27-1" }, "locus": { "chromosome": "22", "start_pos": 20319988, "end_pos": 20314678, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000248879.8", "url": "https://www.ensembl.org/id/ENST00000248879.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000248879.2", "url": "https://www.ensembl.org/id/ENSP00000248879.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9BY27", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BY27" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.", "journal": "Genome Res.", "date": "2001", "authors": "Edelmann L., Morrow B.E., Stankiewicz P., Pandita R.K., Lupski J., Shaffer L., Spiteri E.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY27", "url": "https://www.uniprot.org/uniprot/Q9BY27" } ], "reference": [ { "type": "PubMed", "id": "11157784", "url": "https://glygen.org/publication/PubMed/11157784" } ] }, { "title": "Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.", "journal": "Hum. Genet.", "date": "2005", "authors": "Pfuhl T, Durr M, Spurk A, Schwalbert B, Nord R, Mysliwietz J, Kremmer E, Grasser FA", "evidence": [ { "database": "UniProtKB", "id": "Q9BY27", "url": "https://www.uniprot.org/uniprot/Q9BY27" } ], "reference": [ { "type": "PubMed", "id": "15821931", "url": "https://glygen.org/publication/PubMed/15821931" } ] }, { "title": "DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1.", "journal": "The international journal of biochemistry & cell biology", "date": "2010", "authors": "Li X, Ke Q, Li Y, Liu F, Zhu G, Li F", "evidence": [ { "database": "RefSeq", "id": "NP_150282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282" } ], "reference": [ { "type": "PubMed", "id": "19778628", "url": "https://glygen.org/publication/PubMed/19778628" } ] }, { "title": "Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.", "journal": "Translational psychiatry", "date": "2012", "authors": "Das Chakraborty R, Bernal AJ, Schoch K, Howard TD, Ip EH, Hooper SR, Keshavan MS, Jirtle RL, Shashi V", "evidence": [ { "database": "RefSeq", "id": "NP_150282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150282" } ], "reference": [ { "type": "PubMed", "id": "22832905", "url": "https://glygen.org/publication/PubMed/22832905" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BY27", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BY27" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BY27", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BY27" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "pathway": [ { "id": "hsa:85359", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:85359", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AQQ6-1", "protein_name": "DiGeorge syndrome critical region gene 6", "gene_name": "Dgcr6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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