DGCR14: Difference between revisions

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{{Infobox_gene}}
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'''Protein DGCR14''' is a [[protein]] that in humans is encoded by the ''DGCR14'' [[gene]].<ref name="pmid8776594">{{cite journal | vauthors = Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML | title = A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11 | journal = Hum Mol Genet | volume = 5 | issue = 6 | pages = 789–800 |date=Dec 1996 | pmid = 8776594 | pmc =  | doi =10.1093/hmg/5.6.789 }}</ref><ref name="pmid9063747">{{cite journal | vauthors = Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML | title = Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region | journal = Hum Mol Genet | volume = 6 | issue = 2 | pages = 267–276 |date=Aug 1997 | pmid = 9063747 | pmc =  | doi =10.1093/hmg/6.2.267 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8220| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = DiGeorge syndrome critical region gene 14
| HGNCid = 16817
| Symbol = DGCR14
| AltSymbols =; DGCR13; DGS-H; DGS-I; DGSI; ES2; Es2el
| OMIM = 601755
| ECnumber =
| Homologene = 11184
| MGIid = 107854
  | GeneAtlas_image1 = PBB_GE_DGCR14_32032_at_tn.png
| GeneAtlas_image2 = PBB_GE_DGCR14_204383_at_tn.png
| GeneAtlas_image3 = PBB_GE_DGCR14_217285_at_tn.png
  | Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}  
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}}
| Process = {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8220
    | Hs_Ensembl = ENSG00000100056
    | Hs_RefseqProtein = NP_001019904
    | Hs_RefseqmRNA = NM_001024733
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 17500125
    | Hs_GenLoc_end = 17512167
    | Hs_Uniprot = Q96DF8
    | Mm_EntrezGene = 27886
    | Mm_Ensembl = ENSMUSG00000003527
    | Mm_RefseqmRNA = NM_001081633
    | Mm_RefseqProtein = NP_001075102
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 17815328
    | Mm_GenLoc_end = 17824904
    | Mm_Uniprot = Q3UFM6
  }}
}}
'''DiGeorge syndrome critical region gene 14''', also known as '''DGCR14''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8220| accessdate = }}</ref>


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{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8220| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Rizzu P, Lindsay EA, Taylor C, ''et al.'' |title=Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. |journal=Mamm. Genome |volume=7 |issue= 9 |pages= 639-43 |year= 1996 |pmid= 8703114 |doi=  }}
*{{cite journal  | author=Rizzu P |title=Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans |journal=Mamm. Genome |volume=7 |issue= 9 |pages= 639–643 |year= 1996 |pmid= 8703114 |doi=10.1007/s003359900197  |name-list-format=vanc| author2=Lindsay EA | author3=Taylor C | display-authors=3  | last4=o’Donnell  | first4=H. | last5=Levy  | first5=A.  | last6=Scambler  | first6=P.  | last7=Baldini  | first7=A. }}
*{{cite journal | author=Gong W, Emanuel BS, Collins J, ''et al.'' |title=A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 789-800 |year= 1996 |pmid= 8776594 |doi=  }}
*{{cite journal  | author=Lindsay EA |title=A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart |journal=Genomics |volume=32 |issue= 1 |pages= 104–112 |year= 1996 |pmid= 8786095 |doi= 10.1006/geno.1996.0082  |name-list-format=vanc| author2=Rizzu P  | author3=Antonacci R  | display-authors=3  | last4=Jurecic  | first4=V  | last5=Delmas-Mata  | first5=J  | last6=Lee  | first6=CC  | last7=Kim  | first7=UJ  | last8=Scambler  | first8=PJ  | last9=Baldini | first9=A }}
*{{cite journal  | author=Lindsay EA, Rizzu P, Antonacci R, ''et al.'' |title=A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. |journal=Genomics |volume=32 |issue= 1 |pages= 104-12 |year= 1996 |pmid= 8786095 |doi= 10.1006/geno.1996.0082 }}
*{{cite journal  | vauthors=Botta A, Lindsay EA, Jurecic V, Baldini A |title=Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation |journal=Mamm. Genome |volume=8 |issue= 12 |pages= 890–895 |year= 1998 |pmid= 9383280 |doi=10.1007/s003359900606 }}
*{{cite journal | author=Gong W, Emanuel BS, Galili N, ''et al.'' |title=Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 267-76 |year= 1997 |pmid= 9063747 |doi=  }}
*{{cite journal  | author=Puech A |title=Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 26 |pages= 14608–14613 |year= 1998 |pmid= 9405660 |doi=10.1073/pnas.94.26.14608  | pmc=25069  |name-list-format=vanc| author2=Saint-Jore B  | author3=Funke B  | display-authors=3  | last4=Gilbert  | first4=DJ  | last5=Sirotkin  | first5=H  | last6=Copeland  | first6=NG  | last7=Jenkins  | first7=NA  | last8=Kucherlapati  | first8=R  | last9=Morrow  | first9=B }}
*{{cite journal  | author=Botta A, Lindsay EA, Jurecic V, Baldini A |title=Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. |journal=Mamm. Genome |volume=8 |issue= 12 |pages= 890-5 |year= 1998 |pmid= 9383280 |doi=  }}
*{{cite journal  | vauthors=Lindsay EA, Harvey EL, Scambler PJ, Baldini A |title=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 |journal=Hum. Mol. Genet. |volume=7 |issue= 4 |pages= 629–635 |year= 1998 |pmid= 9499415 |doi=10.1093/hmg/7.4.629 }}
*{{cite journal  | author=Puech A, Saint-Jore B, Funke B, ''et al.'' |title=Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 26 |pages= 14608-13 |year= 1998 |pmid= 9405660 |doi=  }}
*{{cite journal  | vauthors=Taricani L, Tejada ML, Young PG |title=The fission yeast ES2 homologue, Bis1, interacts with the Ish1 stress-responsive nuclear envelope protein |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 10562–10572 |year= 2002 |pmid= 11751918 |doi= 10.1074/jbc.M110686200 }}
*{{cite journal  | author=Lindsay EA, Harvey EL, Scambler PJ, Baldini A |title=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. |journal=Hum. Mol. Genet. |volume=7 |issue= 4 |pages= 629-35 |year= 1998 |pmid= 9499415 |doi=  }}
*{{cite journal  | author=Tchernev VT |title=The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins |journal=Mol. Med. |volume=8 |issue= 1 |pages= 56–64 |year= 2002 |pmid= 11984006 |doi= | pmc=2039936  |name-list-format=vanc| author2=Mansfield TA  | author3=Giot L  | display-authors=3  | last4=Kumar  | first4=AM  | last5=Nandabalan  | first5=K  | last6=Li  | first6=Y  | last7=Mishra  | first7=VS  | last8=Detter  | first8=JC  | last9=Rothberg  | first9=JM }}
*{{cite journal  | author=Taricani L, Tejada ML, Young PG |title=The fission yeast ES2 homologue, Bis1, interacts with the Ish1 stress-responsive nuclear envelope protein. |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 10562-72 |year= 2002 |pmid= 11751918 |doi= 10.1074/jbc.M110686200 }}
*{{cite journal  | author=Jurica MS |title=Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis |journal=RNA |volume=8 |issue= 4 |pages= 426–439 |year= 2002 |pmid= 11991638 |doi=10.1017/S1355838202021088  | pmc=1370266  |name-list-format=vanc| author2=Licklider LJ  | author3=Gygi SR  | display-authors=3  | last4=Grigorieff  | first4=Nikolaus  | last5=Moore  | first5=Melissa J. }}
*{{cite journal  | author=Tchernev VT, Mansfield TA, Giot L, ''et al.'' |title=The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. |journal=Mol. Med. |volume=8 |issue= 1 |pages= 56-64 |year= 2002 |pmid= 11984006 |doi=  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Jurica MS, Licklider LJ, Gygi SR, ''et al.'' |title=Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. |journal=RNA |volume=8 |issue= 4 |pages= 426-39 |year= 2002 |pmid= 11991638 |doi=  }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Collins JE |title=A genome annotation-driven approach to cloning the human ORFeome |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 | pmc=545604  |name-list-format=vanc| author2=Wright CL  | author3=Edwards CA  | display-authors=3  | last4=Davis  | first4=Matthew P  | last5=Grinham  | first5=James A  | last6=Cole  | first6=Charlotte G  | last7=Goward  | first7=Melanie E  | last8=Aguado  | first8=Begoña  | last9=Mallya  | first9=Meera }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Collins JE, Wright CL, Edwards CA, ''et al.'' |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 }}
*{{cite journal  | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–648 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |name-list-format=vanc| author2=Blagoev B  | author3=Gnad F  | display-authors=3  | last4=Macek  | first4=Boris  | last5=Kumar  | first5=Chanchal  | last6=Mortensen  | first6=Peter  | last7=Mann  | first7=Matthias }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
}}
}}
{{refend}}
{{refend}}
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Latest revision as of 18:24, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.[1][2][3]

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.[3]

References

  1. ↑ Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML (Dec 1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum Mol Genet. 5 (6): 789–800. doi:10.1093/hmg/5.6.789. PMID 8776594.
  2. ↑ Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML (Aug 1997). "Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region". Hum Mol Genet. 6 (2): 267–276. doi:10.1093/hmg/6.2.267. PMID 9063747.
  3. ↑ 3.0 3.1 "Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14".

Further reading



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