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Aliases for DGCR14 Gene

Aliases for DGCR14 Gene

  • DiGeorge Syndrome Critical Region Gene 14 2 3 5
  • DiGeorge Syndrome Critical Region Gene 13 2 3
  • DiGeorge Syndrome Protein H 3 4
  • DGCR13 3 4
  • DGS-H 3 4
  • DGSH 3 4
  • DGSI 3 4
  • ES2 3 4
  • DiGeorge Syndrome Critical Region Gene DGSI 3
  • DiGeorge Syndrome Critical Region 13 4
  • DiGeorge Syndrome Critical Region 14 4
  • DiGeorge Syndrome Gene H 3
  • DiGeorge Syndrome Gene I 3
  • Protein DGCR13 3
  • Protein ES2 4
  • DGS-I 3
  • Es2el 3

External Ids for DGCR14 Gene

Previous HGNC Symbols for DGCR14 Gene

  • DGCR13

Previous GeneCards Identifiers for DGCR14 Gene

  • GC22M016062
  • GC22M017495
  • GC22M017496
  • GC22M017500
  • GC22M002739

Summaries for DGCR14 Gene

Entrez Gene Summary for DGCR14 Gene

  • This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for DGCR14 Gene

DGCR14 (DiGeorge Syndrome Critical Region Gene 14) is a Protein Coding gene. Diseases associated with DGCR14 include Digeorge Syndrome and Malignant Ovarian Surface Epithelial-Stromal Neoplasm.

UniProtKB/Swiss-Prot for DGCR14 Gene

  • May be involved in pre-mRNA splicing.

Gene Wiki entry for DGCR14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DGCR14 Gene

Genomics for DGCR14 Gene

Regulatory Elements for DGCR14 Gene

Enhancers for DGCR14 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DGCR14 on UCSC Golden Path with GeneCards custom track

Promoters for DGCR14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DGCR14 on UCSC Golden Path with GeneCards custom track

Genomic Location for DGCR14 Gene

19,130,279 bp from pter
19,144,726 bp from pter
14,448 bases
Minus strand

Genomic View for DGCR14 Gene

Genes around DGCR14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGCR14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGCR14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGCR14 Gene

Proteins for DGCR14 Gene

  • Protein details for DGCR14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein DGCR14
    Protein Accession:
    Secondary Accessions:
    • Q49AH7
    • Q9BTZ4

    Protein attributes for DGCR14 Gene

    476 amino acids
    Molecular mass:
    52568 Da
    Quaternary structure:
    • Identified in the spliceosome C complex.

neXtProt entry for DGCR14 Gene

Proteomics data for DGCR14 Gene at MOPED

Post-translational modifications for DGCR14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGCR14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DGCR14 Gene

Domains & Families for DGCR14 Gene

Protein Domains for DGCR14 Gene


Suggested Antigen Peptide Sequences for DGCR14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DGCR14 family.
  • Belongs to the DGCR14 family.
genes like me logo Genes that share domains with DGCR14: view

No data available for Gene Families for DGCR14 Gene

Function for DGCR14 Gene

Molecular function for DGCR14 Gene

UniProtKB/Swiss-Prot Function:
May be involved in pre-mRNA splicing.

Gene Ontology (GO) - Molecular Function for DGCR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DGCR14: view
genes like me logo Genes that share phenotypes with DGCR14: view

Animal Models for DGCR14 Gene

MGI Knock Outs for DGCR14:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DGCR14 Gene

Localization for DGCR14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGCR14 Gene

Subcellular locations from

Jensen Localization Image for DGCR14 Gene COMPARTMENTS Subcellular localization image for DGCR14 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytoskeleton 1
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for DGCR14 Gene

Pathways & Interactions for DGCR14 Gene

SuperPathways for DGCR14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DGCR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
genes like me logo Genes that share ontologies with DGCR14: view

No data available for Pathways by source and SIGNOR curated interactions for DGCR14 Gene

Drugs & Compounds for DGCR14 Gene

No Compound Related Data Available

Transcripts for DGCR14 Gene

Unigene Clusters for DGCR14 Gene

DiGeorge syndrome critical region gene 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DGCR14 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - -
SP2: - -
SP3: - -
SP5: - -
SP7: -

Relevant External Links for DGCR14 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DGCR14 Gene

mRNA expression in normal human tissues for DGCR14 Gene

Protein differential expression in normal tissues from HIPED for DGCR14 Gene

This gene is overexpressed in Platelet (43.3) and Peripheral blood mononuclear cells (15.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DGCR14 Gene

SOURCE GeneReport for Unigene cluster for DGCR14 Gene Hs.517407

mRNA Expression by UniProt/SwissProt for DGCR14 Gene

Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.
genes like me logo Genes that share expression patterns with DGCR14: view

Protein tissue co-expression partners for DGCR14 Gene

- Elite partner

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 DGCR14 Gene

Orthologs for DGCR14 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGCR14 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DGCR14 35
  • 86.55 (n)
  • 90.55 (a)
DGCR14 36
  • 90 (a)
(Canis familiaris)
Mammalia DGCR14 35
  • 88.59 (n)
  • 93.7 (a)
DGCR14 36
  • 95 (a)
(Mus musculus)
Mammalia Dgcr14 35
  • 85.99 (n)
  • 92.86 (a)
Dgcr14 16
Dgcr14 36
  • 92 (a)
(Pan troglodytes)
Mammalia DGCR14 35
  • 99.44 (n)
  • 99.79 (a)
DGCR14 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Dgcr14 35
  • 86.55 (n)
  • 93.49 (a)
(Monodelphis domestica)
Mammalia DGCR14 36
  • 78 (a)
(Gallus gallus)
Aves DGCR14 35
  • 69.02 (n)
  • 73.13 (a)
DGCR14 36
  • 69 (a)
(Anolis carolinensis)
Reptilia DGCR14 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr14 35
  • 64.95 (n)
  • 66.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15714 35
(Danio rerio)
Actinopterygii dgcr14 35
  • 65.75 (n)
  • 67.51 (a)
dgcr14 36
  • 63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3946 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001347 35
  • 50.28 (n)
  • 44.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta Es2 35
  • 49.44 (n)
  • 40.43 (a)
Es2 36
  • 32 (a)
(Caenorhabditis elegans)
Secernentea ess-2 35
  • 46.8 (n)
  • 40.15 (a)
ess-2 36
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07790 35
  • 45.13 (n)
  • 34.32 (a)
(Oryza sativa)
Liliopsida Os06g0502900 35
  • 45.99 (n)
  • 34.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03822 35
  • 43.48 (n)
  • 32.34 (a)
Species with no ortholog for DGCR14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DGCR14 Gene

Gene Tree for DGCR14 (if available)
Gene Tree for DGCR14 (if available)

Paralogs for DGCR14 Gene

No data available for Paralogs for DGCR14 Gene

Variants for DGCR14 Gene

Sequence variations from dbSNP and Humsavar for DGCR14 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs113904207 - 19,144,549(+) TCGTC(A/G)CAGCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs17743887 - 19,137,352(+) GTCCA(C/G/T)GTAGG nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_015119 -
rs7288585 -- 19,145,268(+) atgtt(G/T)gtcag upstream-variant-2KB
rs2285857 -- 19,133,354(+) AGCAC(C/T)GAAGG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DGCR14 Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv914268 CNV Gain 21882294
nsv834122 CNV Loss 17160897
esv2723977 CNV Deletion 23290073
esv2139371 CNV Deletion 18987734
nsv191518 CNV Loss 16902084
esv1435213 CNV Deletion 17803354
nsv191354 CNV Loss 16902084

Variation tolerance for DGCR14 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.67; 78.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGCR14 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR14 Gene

Disorders for DGCR14 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DGCR14 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
malignant ovarian surface epithelial-stromal neoplasm
  • malignant ovarian surface epithelial-stromal tumor
ovary epithelial cancer
  • epithelial tumor of ovary
ovary adenocarcinoma
  • adenocarcinoma of the ovary
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DGCR14

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DGCR14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGCR14 Gene

Publications for DGCR14 Gene

  1. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. (PMID: 9063747) Gong W. … Budarf M.L. (Hum. Mol. Genet. 1997) 2 3 4 23 67
  2. ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. (PMID: 9499415) Lindsay E.A. … Baldini A. (Hum. Mol. Genet. 1998) 3 23
  3. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. (PMID: 8776594) Gong W. … Budarf M.L. (Hum. Mol. Genet. 1996) 2 3
  4. Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (PMID: 8703114) Rizzu P. … Baldini A. (Mamm. Genome 1996) 3 23
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3

Products for DGCR14 Gene

Sources for DGCR14 Gene