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Aliases for DGCR6L Gene

Aliases for DGCR6L Gene

  • DiGeorge Syndrome Critical Region Gene 6 Like 2 3 5
  • DiGeorge Syndrome Critical Region 6-Like Protein 3 4
  • Protein DGCR6L 3
  • DGCR6 3

External Ids for DGCR6L Gene

Previous GeneCards Identifiers for DGCR6L Gene

  • GC22M017242
  • GC22M018676
  • GC22M003921

Summaries for DGCR6L Gene

Entrez Gene Summary for DGCR6L Gene

  • 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]

GeneCards Summary for DGCR6L Gene

DGCR6L (DiGeorge Syndrome Critical Region Gene 6 Like) is a Protein Coding gene. Diseases associated with DGCR6L include Digeorge Syndrome and Chromosomal Deletion Syndrome. An important paralog of this gene is DGCR6.

UniProtKB/Swiss-Prot for DGCR6L Gene

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

Additional gene information for DGCR6L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DGCR6L Gene

Genomics for DGCR6L Gene

Regulatory Elements for DGCR6L Gene

Enhancers for DGCR6L 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
GH22H020319 1.1 ENCODE 23 -0.3 -322 2 HDGF ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 SP3 SP5 NFYC DGCR6L LZTR1 DGCR8 THAP7-AS1 TRMT2A RANBP1 LOC100420177 SCARF2 MED15 ENSG00000273139
GH22H020322 0.9 Ensembl ENCODE 10.6 -3.4 -3367 2 BCOR RAD21 HDAC8 ZFHX2 POLR2A EGR1 TARDBP FOS NFE2 ZBTB33 DGCR6L ENSG00000273139 LOC101927859
GH22H019874 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2.7 +441.2 441188 9 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS SP5 RPL8P5 LOC100420177 LINC01311 TXNRD2 ZNF74 DGCR8 ENSG00000273343 TRMT2A KLHL22 GNB1L
GH22H020364 0.5 Ensembl 5.9 -44.7 -44722 0 CEBPB CEBPG ZNF507 DGCR8 THAP7 THAP7-AS1 DGCR6L GC22P020363 GC22P020364 PIR42203 GC22P020374 GC22P020372 GC22P020371
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DGCR6L on UCSC Golden Path with GeneCards custom track

Genomic Location for DGCR6L Gene

Chromosome:
22
Start:
20,314,238 bp from pter
End:
20,320,105 bp from pter
Size:
5,868 bases
Orientation:
Minus strand

Genomic View for DGCR6L Gene

Genes around DGCR6L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGCR6L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGCR6L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGCR6L Gene

Proteins for DGCR6L Gene

  • Protein details for DGCR6L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY27-DGC6L_HUMAN
    Recommended name:
    Protein DGCR6L
    Protein Accession:
    Q9BY27
    Secondary Accessions:
    • A8K1N7
    • B3KMC0
    • D3DX29
    • Q9BW33

    Protein attributes for DGCR6L Gene

    Size:
    220 amino acids
    Molecular mass:
    24932 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DGCR6L Gene

Post-translational modifications for DGCR6L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGCR6L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DGCR6L Gene

Domains & Families for DGCR6L Gene

Gene Families for DGCR6L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DGCR6L Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DGCR6L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BY27

UniProtKB/Swiss-Prot:

DGC6L_HUMAN :
  • Belongs to the gonadal family.
Family:
  • Belongs to the gonadal family.
genes like me logo Genes that share domains with DGCR6L: view

Function for DGCR6L Gene

Molecular function for DGCR6L Gene

UniProtKB/Swiss-Prot Function:
May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.

Gene Ontology (GO) - Molecular Function for DGCR6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22458338
genes like me logo Genes that share ontologies with DGCR6L: view
genes like me logo Genes that share phenotypes with DGCR6L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DGCR6L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DGCR6L Gene

Localization for DGCR6L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGCR6L 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 DGCR6L gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DGCR6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DGCR6L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGCR6L Gene

Pathways & Interactions for DGCR6L Gene

SuperPathways for DGCR6L Gene

No Data Available

Gene Ontology (GO) - Biological Process for DGCR6L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DGCR6L Gene

Drugs & Compounds for DGCR6L Gene

No Compound Related Data Available

Transcripts for DGCR6L Gene

mRNA/cDNA for DGCR6L Gene

Unigene Clusters for DGCR6L Gene

DiGeorge syndrome critical region gene 6-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DGCR6L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DGCR6L Gene

No ASD Table

Relevant External Links for DGCR6L Gene

GeneLoc Exon Structure for
DGCR6L
ECgene alternative splicing isoforms for
DGCR6L

Expression for DGCR6L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DGCR6L Gene

Protein differential expression in normal tissues from HIPED for DGCR6L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DGCR6L Gene



Protein tissue co-expression partners for DGCR6L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DGCR6L Gene:

DGCR6L

SOURCE GeneReport for Unigene cluster for DGCR6L Gene:

Hs.410965

mRNA Expression by UniProt/SwissProt for DGCR6L Gene:

Q9BY27-DGC6L_HUMAN
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.

Evidence on tissue expression from TISSUES for DGCR6L Gene

  • Nervous system(4.3)
  • Intestine(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with DGCR6L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGCR6L Gene

Orthologs for DGCR6L Gene

This gene was present in the common ancestor of animals.

Orthologs for DGCR6L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DGCR6L 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DGCR6L 34
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dgcr6 34
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves DGCR6 34
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dgcr6 34
  • 63 (a)
OneToMany
Dr.16559 33
fruit fly
(Drosophila melanogaster)
Insecta gdl 34
  • 34 (a)
OneToMany
Species where no ortholog for DGCR6L 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DGCR6L Gene

ENSEMBL:
Gene Tree for DGCR6L (if available)
TreeFam:
Gene Tree for DGCR6L (if available)

Paralogs for DGCR6L Gene

Paralogs for DGCR6L Gene

(1) SIMAP similar genes for DGCR6L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DGCR6L: view

Variants for DGCR6L Gene

Sequence variations from dbSNP and Humsavar for DGCR6L Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs193920891 Uncertain significance 20,314,730(-) AGGTC(C/T)CTGGC reference, missense
rs1000069961 -- 20,315,902(+) GGGAG(C/T)ACTGG intron-variant
rs1000111803 -- 20,316,787(+) CTGGG(A/G)GGCCC intron-variant
rs1001668014 -- 20,318,454(+) TGCCC(C/T)GGACT intron-variant
rs1001782404 -- 20,318,024(+) GACCA(C/T)AGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DGCR6L Gene

Variant ID Type Subtype PubMed ID
dgv726n67 CNV gain 20364138
dgv7983n54 CNV gain 21841781
esv2758825 CNV loss 17122850
esv3893434 CNV gain 25118596
nsv471183 CNV loss 18288195
nsv519102 CNV loss 19592680
nsv588253 CNV loss 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv979635 CNV duplication 23825009

Variation tolerance for DGCR6L Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGCR6L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGCR6L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR6L Gene

Disorders for DGCR6L Gene

MalaCards: The human disease database

(3) MalaCards diseases for DGCR6L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
chromosomal deletion syndrome
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DGCR6L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DGCR6L
genes like me logo Genes that share disorders with DGCR6L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGCR6L Gene

Publications for DGCR6L Gene

  1. 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 … Lupski J (Genome research 2001) 2 3 4 60
  2. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. (PMID: 15821931) Pfuhl T … Grässer FA (Human genetics 2005) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for DGCR6L Gene

Sources for DGCR6L Gene

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