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Aliases for DGCR6 Gene

Aliases for DGCR6 Gene

  • DiGeorge Syndrome Critical Region Gene 6 2 3 5
  • 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 Velocardiofacial Syndrome. An important paralog of this gene is LOC102724770.

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

Enhancers for DGCR6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F018904 1 ENCODE 51.7 +0.2 208 2.9 HDGF PKNOX1 ATF1 SIN3A KLF7 KLF13 SP3 REST MBD2 SMARCA4 DGCR6 DGCR10 GC22P018948
GH22F018923 1.5 FANTOM5 Ensembl ENCODE 19.6 +24.2 24151 13.4 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF121 GLIS2 FOS SP5 NFYC DGCR6 PRODH DGCR5 MICAL3 TUBA8 GC22P018948
GH22F018908 0.5 Ensembl 52.2 +2.6 2573 0.8 CTCF ZNF654 GLIS1 SPI1 DGCR6 DGCR9 GC22P018948
GH22F018975 0.4 ENCODE 9.7 +70.1 70058 1.2 ZNF121 MCM3 DGCR5 DGCR6 PRODH ENSG00000283406 ENSG00000283583
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DGCR6 on UCSC Golden Path with GeneCards custom track

Promoters for DGCR6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001841848 -427 3200 HDGF PKNOX1 ATF1 SIN3A KLF7 KLF13 SP3 REST MBD2 SMARCA4

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

Genes around DGCR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGCR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for DGCR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGCR6 Gene

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for DGCR6

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DGCR6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DGCR6 gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 2
peroxisome 1

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

Gene Ontology (GO) - Biological Process for DGCR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 8733130
GO:0009887 animal 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

Transcripts for DGCR6 Gene

Unigene Clusters for DGCR6 Gene

DiGeorge syndrome critical region gene 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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 from GTEx, Illumina, BioGPS, and SAGE for DGCR6 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of DGCR6 Gene:

DGCR6

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia DGCR6 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DGCR6L 35
  • 98 (a)
OneToMany
DGCR6 34
  • 92.26 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 95 (a)
OneToMany
DGCR6 34
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Dgcr6 35
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves DGCR6 34 35
  • 78.74 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr6 34
  • 65.81 (n)
Str.3972 34
zebrafish
(Danio rerio)
Actinopterygii dgcr6 34 35
  • 67.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta gdl 35
  • 34 (a)
OneToMany
Species where no ortholog for DGCR6 was found in the sources mined by GeneCards:
  • 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:

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
rs1056779 -- 18,911,884(-) AAGCA(A/G)ACAGC utr-variant-3-prime
rs1056797 -- 18,911,643(+) GCAGT(C/T)GCCTG reference, missense
rs10602 -- 18,911,971(+) CACTC(A/G)AGCGC utr-variant-3-prime
rs11089242 -- 18,911,305(+) ATTCC(A/G)AGTGG intron-variant
rs111926138 -- 18,907,125(+) TGACA(A/G)CTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4469n100 CNV gain 25217958
dgv4468n100 CNV gain+loss 25217958
dgv4467n100 CNV gain 25217958
dgv4466n100 CNV gain+loss 25217958
dgv42e213 CNV gain 24956385
dgv174e55 CNV gain 17911159
dgv173e55 CNV gain 17911159
dgv169n111 CNV duplication 26073780
dgv1283e212 CNV gain 25503493
nsv979632 CNV duplication 23825009
nsv953020 CNV deletion 24416366
nsv588166 CNV loss 21841781
nsv588165 CNV gain 21841781
nsv588155 CNV gain 21841781
nsv516997 CNV gain+loss 19592680
nsv471180 CNV loss 18288195
nsv471179 CNV gain 18288195
nsv469578 CNV gain 16826518
nsv459336 CNV loss 19166990
nsv442503 CNV gain 18776908
nsv1160726 CNV duplication 26073780
nsv1067175 CNV loss 25217958
nsv1064861 CNV gain 25217958
nsv1063432 CNV loss 25217958
nsv1061694 CNV gain 25217958
esv3893433 CNV gain 25118596
esv3893432 CNV gain 25118596
esv3893431 CNV gain+loss 25118596
esv3584485 CNV gain 24956385
esv3584483 CNV gain 24956385
esv3575418 CNV gain 25503493
esv32687 CNV gain+loss 17666407
esv2758824 CNV gain+loss 17122850
esv2751935 CNV loss 17911159
esv22247 CNV gain+loss 19812545
dgv99e203 CNV gain+loss 21179565
dgv7976n54 CNV gain 21841781
dgv7975n54 CNV loss 21841781
dgv7973n54 CNV gain 21841781
dgv7972n54 CNV gain+loss 21841781
dgv7971n54 CNV gain 21841781
dgv7969n54 CNV gain 21841781
dgv543n27 CNV gain 19166990
dgv542n27 CNV loss 19166990
dgv541n27 CNV gain 19166990
dgv4476n100 CNV gain 25217958
dgv4475n100 CNV gain 25217958
dgv4474n100 CNV gain 25217958
dgv4473n100 CNV gain+loss 25217958
dgv4472n100 CNV loss 25217958
dgv4471n100 CNV gain 25217958

Variation tolerance for DGCR6 Gene

Residual Variation Intolerance Score: 78.3% 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

Human Gene Mutation Database (HGMD)
DGCR6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 sequence
velocardiofacial syndrome
  • cayler cardiofacial syndrome
t cell deficiency
  • t-lymphocyte deficiency
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
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 3 4 22 64
  2. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. (PMID: 15821931) Pfuhl T. … Graesser F.A. (Hum. Genet. 2005) 3 4 22 64
  3. 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) 3 4 22 64
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 4 64
  5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E. … Estivill X. (J Psychiatr Res 2010) 3 46 64

Products for DGCR6 Gene

Sources for DGCR6 Gene

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