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Aliases for DGCR6 Gene

Aliases for DGCR6 Gene

  • DiGeorge Syndrome Critical Region Gene 6 2 3
  • DiGeorge Syndrome Critical Region 6 4

External Ids for DGCR6 Gene

Previous GeneCards Identifiers for DGCR6 Gene

  • GC22P015834
  • GC22P017268
  • GC22P018893
  • GC22P002515

Summaries for DGCR6 Gene

Entrez Gene Summary for DGCR6 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 cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]

GeneCards Summary for DGCR6 Gene

DGCR6 (DiGeorge Syndrome Critical Region Gene 6) is a Protein Coding gene. Diseases associated with DGCR6 include digeorge syndrome and t cell deficiency. An important paralog of this gene is DGCR6L.

UniProtKB/Swiss-Prot for DGCR6 Gene

  • May play a role in neural crest cell migration into the third and fourth pharyngeal pouches

Gene Wiki entry for DGCR6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DGCR6 Gene

Genomics for DGCR6 Gene

Regulatory Elements for DGCR6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DGCR6 Gene

Chromosome:
22
Start:
18,906,028 bp from pter
End:
18,914,238 bp from pter
Size:
8,211 bases
Orientation:
Plus strand

Genomic View for DGCR6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DGCR6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGCR6 Gene

Proteins for DGCR6 Gene

  • Protein details for DGCR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14129-DGCR6_HUMAN
    Recommended name:
    Protein DGCR6
    Protein Accession:
    Q14129
    Secondary Accessions:
    • B2RCH5
    • D3DX15
    • G5E9J8
    • Q9BY28

    Protein attributes for DGCR6 Gene

    Size:
    220 amino acids
    Molecular mass:
    24989 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA65339.1; Type=Frameshift; Positions=69; Evidence={ECO:0000305};

    Alternative splice isoforms for DGCR6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGCR6 Gene

Proteomics data for DGCR6 Gene at MOPED

Post-translational modifications for DGCR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGCR6 Gene

Antibody Products

No data available for DME Specific Peptides for DGCR6 Gene

Domains & Families for DGCR6 Gene

Protein Domains for DGCR6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DGCR6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14129

UniProtKB/Swiss-Prot:

DGCR6_HUMAN :
  • Belongs to the gonadal family.
Family:
  • Belongs to the gonadal family.
genes like me logo Genes that share domains with DGCR6: view

No data available for Gene Families for DGCR6 Gene

Function for DGCR6 Gene

Molecular function for DGCR6 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neural crest cell migration into the third and fourth pharyngeal pouches
UniProtKB/Swiss-Prot Induction:
Increased levels in several tumor cell lines, including lung and colon adenocarcinomas and mammary carcinomas. Strongly induced in Burkitts lymphoma and lymphocytes transformed by EBV

Gene Ontology (GO) - Molecular Function for DGCR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DGCR6: view

Phenotypes for DGCR6 Gene

GenomeRNAi human phenotypes for DGCR6:
genes like me logo Genes that share phenotypes with DGCR6: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DGCR6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DGCR6 Gene

Localization for DGCR6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGCR6 Gene

Nucleus. Note=Predominantly nuclear.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DGCR6 Gene COMPARTMENTS Subcellular localization image for DGCR6 gene
Compartment Confidence
extracellular 4
nucleus 3

Gene Ontology (GO) - Cellular Components for DGCR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix TAS 8733130
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DGCR6: view

Pathways & Interactions for DGCR6 Gene

SuperPathways for DGCR6 Gene

No Data Available

Interacting Proteins for DGCR6 Gene

Gene Ontology (GO) - Biological Process for DGCR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 8733130
GO:0009887 organ morphogenesis TAS 8733130
genes like me logo Genes that share ontologies with DGCR6: view

No data available for Pathways by source and SIGNOR curated interactions for DGCR6 Gene

Drugs & Compounds for DGCR6 Gene

No Compound Related Data Available

Transcripts for DGCR6 Gene

Unigene Clusters for DGCR6 Gene

DiGeorge syndrome critical region gene 6:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DGCR6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DGCR6 Gene

No ASD Table

Relevant External Links for DGCR6 Gene

GeneLoc Exon Structure for
DGCR6
ECgene alternative splicing isoforms for
DGCR6

Expression for DGCR6 Gene

mRNA expression in normal human tissues for DGCR6 Gene

mRNA differential expression in normal tissues according to GTEx for DGCR6 Gene

This gene is overexpressed in Muscle - Skeletal (x7.4).

SOURCE GeneReport for Unigene cluster for DGCR6 Gene Hs.474185

mRNA Expression by UniProt/SwissProt for DGCR6 Gene

Q14129-DGCR6_HUMAN
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.
genes like me logo Genes that share expression patterns with DGCR6: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DGCR6 Gene

Orthologs for DGCR6 Gene

This gene was present in the common ancestor of animals.

Orthologs for DGCR6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DGCR6 35
  • 92.26 (n)
  • 95.96 (a)
DGCR6L 36
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DGCR6 35
  • 89.9 (n)
  • 95.45 (a)
-- 36
  • 95 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dgcr6 16
Dgcr6 36
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 77 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia DGCR6 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves DGCR6 35
  • 78.74 (n)
  • 78.57 (a)
DGCR6 36
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr6 35
  • 65.81 (n)
  • 71.79 (a)
Str.3972 35
zebrafish
(Danio rerio)
Actinopterygii dgcr6 35
  • 67.53 (n)
  • 65.46 (a)
dgcr6 36
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta gdl 36
  • 34 (a)
OneToMany
Species with no ortholog for DGCR6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DGCR6 Gene

ENSEMBL:
Gene Tree for DGCR6 (if available)
TreeFam:
Gene Tree for DGCR6 (if available)

Paralogs for DGCR6 Gene

Paralogs for DGCR6 Gene

(1) SIMAP similar genes for DGCR6 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for DGCR6 Gene

genes like me logo Genes that share paralogs with DGCR6: view

Variants for DGCR6 Gene

Sequence variations from dbSNP and Humsavar for DGCR6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs10602 -- 18,911,971(+) CACTC(A/G)AGCGC utr-variant-3-prime
rs370780 -- 18,905,201(+) ggagc(A/G)gagtc upstream-variant-2KB
rs372579 -- 18,905,725(+) GGAGA(A/G)GGCAG upstream-variant-2KB
rs380554 -- 18,905,435(+) cccct(C/T)agctc upstream-variant-2KB
rs407895 -- 18,906,118(+) AGGTA(C/T)GAGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DGCR6 Gene

Variant ID Type Subtype PubMed ID
dgv1380e1 CNV Complex 17122850
nsv516997 CNV Gain+Loss 19592680
esv2751935 CNV Loss 17911159
dgv173e55 CNV Gain 17911159
esv32687 CNV Gain+Loss 17666407
esv22247 CNV Gain+Loss 19812545
dgv4821n71 CNV Gain 21882294
nsv469578 CNV Gain 16826518
dgv4822n71 CNV Gain 21882294
dgv4823n71 CNV Gain 21882294
nsv442503 CNV CNV 18776908
nsv914186 CNV Gain 21882294
dgv4824n71 CNV Gain 21882294
essv17726 CNV CNV 17122850
dgv1381e1 CNV Complex 17122850
dgv1382e1 CNV Complex 17122850
nsv914191 CNV Gain 21882294
dgv4825n71 CNV Gain 21882294
dgv4826n71 CNV Loss 21882294
nsv914195 CNV Loss 21882294
dgv4827n71 CNV Loss 21882294
dgv4828n71 CNV Gain 21882294
dgv4829n71 CNV Gain+Loss 21882294
nsv914209 CNV Gain 21882294
nsv459336 CNV Loss 19166990
dgv541n27 CNV Gain 19166990
dgv542n27 CNV Loss 19166990
nsv471179 CNV Gain 18288195
nsv471180 CNV Loss 18288195
dgv543n27 CNV Gain 19166990
nsv435744 CNV Deletion 17901297
nsv914226 CNV Loss 21882294
nsv914227 CNV Loss 21882294
dgv174e55 CNV Gain 17911159
dgv1383e1 CNV Complex 17122850
nsv914231 CNV Gain 21882294
dgv4830n71 CNV Gain 21882294

Variation tolerance for DGCR6 Gene

Residual Variation Intolerance Score: 78.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGCR6 Gene

HapMap Linkage Disequilibrium report
DGCR6
Human Gene Mutation Database (HGMD)
DGCR6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR6 Gene

Disorders for DGCR6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DGCR6 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge's syndrome
t cell deficiency
  • t-lymphocyte deficiency
velocardiofacial syndrome
  • 22q11 deletion syndrome
schizophrenia
  • schizophrenia 12
- elite association
Search DGCR6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DGCR6

Genetic Association Database (GAD)
DGCR6
Human Genome Epidemiology (HuGE) Navigator
DGCR6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DGCR6
genes like me logo Genes that share disorders with DGCR6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGCR6 Gene

Publications for DGCR6 Gene

  1. Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. (PMID: 8733130) Demczuk S. … Aurias A. (Hum. Mol. Genet. 1996) 2 23 67
  2. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. (PMID: 19420922) Bittel D.C. … Cooley L.D. (Cytogenet. Genome Res. 2009) 23 67
  3. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. (PMID: 15821931) Pfuhl T. … Graesser F.A. (Hum. Genet. 2005) 23 67
  4. Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population. (PMID: 15274030) Li T. … Collier D.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004) 23 67
  5. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. (PMID: 11157784) Edelmann L. … Morrow B.E. (Genome Res. 2001) 23 67

Products for DGCR6 Gene

Sources for DGCR6 Gene

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