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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 DGCR14 3
  • Protein ES2 4
  • DGS-I 3
  • ESS-2 3
  • Es2el 3
  • Bis1 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 CIViC summary , 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 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
GH22G019143 1.1 ENCODE 23.9 +0.3 323 1.9 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 ZNF766 DGCR14 DGCR2 ENSG00000223461 RPL7AP70 GC22P019199 GC22P019205
GH22G019169 1.7 Ensembl ENCODE dbSUPER 14 -30.0 -29967 11.2 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 SLC25A1 CLTCL1 LINC01311 E2F6P1 GSC2 DGCR14 TSSK2 TSSK1A DGCR2 ENSG00000223461
GH22G019107 1.6 Ensembl ENCODE dbSUPER 12.5 +34.3 34334 4.9 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B FEZF1 YY1 DGCR2 E2F6P1 DGCR14 GSC2 TBX1 RPL7AP70 DGCR11 PIR39211 ENSG00000223461
GH22G019289 1.7 FANTOM5 ENCODE dbSUPER 10.4 -146.5 -146451 3.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 ZBTB7B ZNF766 LINC01311 CLTCL1 DGCR8 SLC25A1 DGCR14 GC22M019285
GH22G019429 1.4 ENCODE dbSUPER 10.3 -287.0 -287048 4.7 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 LINC01311 DGCR8 UFD1 RPL7AP70 ENSG00000273300 DGCR11 RTL10 ENSG00000273343 DGCR14 CLTCL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000143720 326 1201 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 ZNF766

Genomic Location for DGCR14 Gene

Chromosome:
22
Start:
19,130,279 bp from pter
End:
19,144,726 bp from pter
Size:
14,448 bases
Orientation:
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:
    Q96DF8-DGC14_HUMAN
    Recommended name:
    Protein DGCR14
    Protein Accession:
    Q96DF8
    Secondary Accessions:
    • Q49AH7
    • Q9BTZ4

    Protein attributes for DGCR14 Gene

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

neXtProt entry for DGCR14 Gene

Post-translational modifications for DGCR14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DGCR14 Gene

Domains & Families for DGCR14 Gene

Protein Domains for DGCR14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DGCR14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DF8

UniProtKB/Swiss-Prot:

DGC14_HUMAN :
  • Belongs to the DGCR14 family.
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 --
GO:0005515 protein binding IPI 22365833
genes like me logo Genes that share ontologies with DGCR14: view
genes like me logo Genes that share phenotypes with DGCR14: view

Human Phenotype Ontology for DGCR14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DGCR14 Gene

MGI Knock Outs for DGCR14:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 DGCR14 gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DGCR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 8703114
GO:0005681 spliceosomal complex IEA --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with DGCR14: view

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
GO:0006397 mRNA processing IEA --
GO:0007399 nervous system development ISS 8703114
GO:0008380 RNA splicing IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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: - -
SP4:
SP5: - -
SP6:
SP7: -

Relevant External Links for DGCR14 Gene

GeneLoc Exon Structure for
DGCR14
ECgene alternative splicing isoforms for
DGCR14

Expression for DGCR14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DGCR14 Gene



Protein tissue co-expression partners for DGCR14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DGCR14 Gene:

DGCR14

SOURCE GeneReport for Unigene cluster for DGCR14 Gene:

Hs.517407

mRNA Expression by UniProt/SwissProt for DGCR14 Gene:

Q96DF8-DGC14_HUMAN
Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.

Evidence on tissue expression from TISSUES for DGCR14 Gene

  • Lung(4.4)
  • Heart(4.3)
  • Nervous system(3.6)
  • Muscle(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with DGCR14: 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 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
chimpanzee
(Pan troglodytes)
Mammalia DGCR14 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia DGCR14 34 35
  • 88.59 (n)
cow
(Bos Taurus)
Mammalia DGCR14 34 35
  • 86.55 (n)
rat
(Rattus norvegicus)
Mammalia Dgcr14 34
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Dgcr14 34 16 35
  • 85.99 (n)
oppossum
(Monodelphis domestica)
Mammalia DGCR14 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DGCR14 34 35
  • 69.02 (n)
lizard
(Anolis carolinensis)
Reptilia DGCR14 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr14 34
  • 64.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15714 34
zebrafish
(Danio rerio)
Actinopterygii dgcr14 34 35
  • 65.75 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3946 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001347 34
  • 50.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Es2 34 35
  • 49.44 (n)
worm
(Caenorhabditis elegans)
Secernentea ess-2 34 35
  • 46.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07790 34
  • 45.13 (n)
rice
(Oryza sativa)
Liliopsida Os06g0502900 34
  • 45.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03822 34
  • 43.48 (n)
Species where no ortholog for DGCR14 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for DGCR14 (if available)
TreeFam:
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
rs1000008133 -- 19,137,016(+) CCCTC(A/G)GGCCT intron-variant, downstream-variant-500B
rs1000245173 -- 19,136,199(+) TCTAC(C/T)AAAAA intron-variant
rs1000322876 -- 19,131,568(+) GATTC(C/G)TTCCT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1000493130 -- 19,140,826(+) ATCTC(A/C)GAGAG intron-variant
rs1000822566 -- 19,145,436(+) AGACA(C/G)GCGGA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv1435213 CNV deletion 17803354
esv2139371 CNV deletion 18987734
esv3575418 CNV gain 25503493
nsv1056141 CNV gain 25217958
nsv191354 CNV deletion 16902084
nsv191518 CNV deletion 16902084
nsv588213 CNV gain 21841781
nsv588216 CNV gain 21841781
nsv834122 CNV loss 17160897
nsv953022 CNV deletion 24416366

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)
DGCR14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGCR14

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

Disorders for DGCR14 Gene

MalaCards: The human disease database

(10) 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
  • 22q11 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DGCR14

Genetic Association Database (GAD)
DGCR14
Human Genome Epidemiology (HuGE) Navigator
DGCR14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DGCR14
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 22 64
  2. 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 64
  3. 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 4 22 64
  4. Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia. (PMID: 16432632) Wang H. … He L. (J Neural Transm 2006) 3 46 64
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64

Products for DGCR14 Gene

Sources for DGCR14 Gene

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