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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 T Cell Deficiency. 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.

No data available for 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
GH22F020319 1.1 ENCODE 23 -0.3 -322 2.8 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 KLF13 SP3 SP5 DGCR6L LOC100420177 THAP7 THAP7-AS1 DGCR8 ENSG00000273139
GH22F020308 0.6 Ensembl 17.1 +11.1 11105 0.4 STAT1 ZBTB48 SMARCA4 RNF2 STAT2 ZIC2 DGCR6L ENSG00000273343 LOC440792
GH22F020322 0.9 Ensembl ENCODE 10.6 -3.4 -3396 2.2 BCOR NRF1 BHLHE40 ZIC2 ZFHX2 POLR2A ZBTB33 FOS HMGN3 MAFK DGCR6L ENSG00000273139 LOC101927859
GH22F019871 1.7 FANTOM5 Ensembl ENCODE 2.7 +442.5 442471 12.3 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS ZNF263 SP5 TXNRD2 RPL8P5 ABHD17AP4 GNB1L C22orf29 DGCR6L COMT ZDHHC8 GC22M019875
GH22F020363 0.4 Ensembl 5.9 -44.4 -44396 1.8 CEBPB DGCR6L GC22P020363 GC22P020364 GC22P020366 GC22P020368 GC22P020369 GC22P020371 GC22P020372 GC22P020374 PIR42203
- 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

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

No data available for Gene Families for DGCR6L Gene

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:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0005515 protein binding IPI 22458338
GO:0046872 metal ion binding IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DGCR6L: view

Pathways & Interactions for DGCR6L Gene

SuperPathways for DGCR6L Gene

No Data Available

Gene Ontology (GO) - Biological Process for DGCR6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with DGCR6L: view

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

Transcripts for DGCR6L Gene

mRNA/cDNA for DGCR6L Gene

Unigene Clusters for DGCR6L Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, 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.
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 and mRNA differential expression in normal tissues 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 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DGCR6L 35
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 93 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dgcr6 35
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves DGCR6 35
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dgcr6 35
  • 63 (a)
OneToMany
Dr.16559 34
fruit fly
(Drosophila melanogaster)
Insecta gdl 35
  • 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
rs1056778 -- 20,314,470(-) TCAGG(A/G)CCAGG utr-variant-3-prime
rs1056802 -- 20,314,738(+) CCTCC(C/T)AGTCC reference, synonymous-codon
rs1056803 -- 20,314,741(+) CCCAG(C/T)CCCAG reference, synonymous-codon
rs1056804 -- 20,314,753(+) GCTGC(A/T)TTCCC reference, missense

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

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

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
t cell deficiency
  • t-lymphocyte deficiency
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. … Morrow B.E. (Genome Res. 2001) 2 3 4 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DGCR6L Gene

Sources for DGCR6L Gene

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