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Aliases for DGCR14 Gene

Aliases for DGCR14 Gene

  • DiGeorge Syndrome Critical Region Gene 14 2 3
  • DGSI 3 4 6
  • DiGeorge Syndrome Critical Region Gene 13 2 3
  • DiGeorge Syndrome Critical Region 13 3 4
  • DiGeorge Syndrome Critical Region 14 3 4
  • DiGeorge Syndrome Protein H 3 4
  • DGCR13 3 4
  • DGS-H 3 4
  • DGSH 3 4
  • ES2 3 4
  • DiGeorge Syndrome Critical Region Gene DGSI 3
  • DiGeorge Syndrome Gene H 3
  • DiGeorge Syndrome Gene I 3
  • Protein DGCR13 3
  • Protein DGCR14 3
  • Protein ES2 4
  • DGS-I 3
  • Es2el 3

External Ids for DGCR14 Gene

Previous Symbols for DGCR14 Gene

  • DGCR13

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. [provided by RefSeq, Jul 2008]

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 velocardiofacial syndrome.

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

Genomic Location for DGCR14 Gene

Start:
19,130,279 bp from pter
End:
19,144,684 bp from pter
Size:
14,406 bases
Orientation:
Minus strand

Genomic View for DGCR14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DGCR14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGCR14 Gene

Regulatory Elements 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

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 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
Family:
  • Belongs to the DGCR14 family.:
    • Q96DF8
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

Phenotypes for DGCR14 Gene

MGI mutant phenotypes for DGCR14:
inferred from 1 alleles
GenomeRNAi human phenotypes for DGCR14:
genes like me logo Genes that share phenotypes with DGCR14: view

Animal Models for DGCR14 Gene

MGI Knock Outs for DGCR14:

miRNA for DGCR14 Gene

miRTarBase miRNAs that target DGCR14

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DGCR14 Gene

Localization for DGCR14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGCR14 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DGCR14 Gene COMPARTMENTS Subcellular localization image for DGCR14 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1
extracellular 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:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with DGCR14: view

Pathways 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:0007399 nervous system development ISS 8703114
genes like me logo Genes that share ontologies with DGCR14: view

No data available for Pathways by source for DGCR14 Gene

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: - -
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 for DGCR14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q96DF8-DGC14_HUMAN
Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.
genes like me logo Genes that share expressions with DGCR14: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia DGCR14 35
  • 99.44 (n)
  • 99.79 (a)
DGCR14 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DGCR14 35
  • 86.55 (n)
  • 90.55 (a)
DGCR14 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DGCR14 35
  • 88.59 (n)
  • 93.7 (a)
DGCR14 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dgcr14 35
  • 85.99 (n)
  • 92.86 (a)
Dgcr14 16
Dgcr14 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DGCR14 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dgcr14 35
  • 86.55 (n)
  • 93.49 (a)
chicken
(Gallus gallus)
Aves DGCR14 35
  • 69.02 (n)
  • 73.13 (a)
DGCR14 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DGCR14 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15714 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr14 35
  • 64.95 (n)
  • 66.67 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3946 35
zebrafish
(Danio rerio)
Actinopterygii dgcr14 35
  • 65.75 (n)
  • 67.51 (a)
dgcr14 36
  • 63 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ess-2 35
  • 46.8 (n)
  • 40.15 (a)
ess-2 36
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07790 35
  • 45.13 (n)
  • 34.32 (a)
rice
(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

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 MAF
rs712965 - 19,134,359(-) CCCAG(A/C/G/T)ACGCT missense, reference
rs715535 -- 19,145,953(+) gaggt(A/G)gaaac upstream-variant-2KB
rs715540 -- 19,145,818(+) AGGAG(A/T)TTGAG upstream-variant-2KB
rs715544 -- 19,146,092(+) CAAAC(A/G)AAAGA upstream-variant-2KB
rs737923 -- 19,144,812(+) TTGGA(A/G)ATGTA upstream-variant-2KB

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

Relevant External Links for DGCR14 Gene

HapMap Linkage Disequilibrium report
DGCR14
Human Gene Mutation Database (HGMD)
DGCR14

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

Disorders for DGCR14 Gene

(1) University of Copenhagen DISEASES for DGCR14 Gene

(1) Novoseek inferred disease relationships for DGCR14 Gene

Disease -log(P) Hits PubMed IDs
digeorge syndrome 86.1 1

Relevant External Links for DGCR14

Genetic Association Database (GAD)
DGCR14
Human Genome Epidemiology (HuGE) Navigator
DGCR14
genes like me logo Genes that share disorders with DGCR14: view

No data available for UniProtKB/Swiss-Prot 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
  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
  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 23
  4. A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. (PMID: 8786095) Lindsay E.A. … Baldini A. (Genomics 1996) 3 4
  5. 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

Products for DGCR14 Gene

Sources for DGCR14 Gene

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