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Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005315 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_005315.1, 4885362
Length 618 bp
Structure linear
Update Date 01-FEB-2014
Organism Homo sapiens (human)
Definition Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.
Product homeobox protein goosecoid-2
Comment

Summary: Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq record was created from genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by experimental evidence.


##Evidence-Data-START## RNAseq introns :: mixed/partial sample support ERS025087, ERS025094 [ECO:0000350] ##Evidence-Data-END##

RefSeq NP_005306.1
CDS 1..618
Misc Feature(1)379..555
Misc Feature(2)379..555
Misc Feature(3)order(379..393,397..399,448..450,466..468,505..507,
Misc Feature(4)order(385..387,394..396,514..516,523..528,535..537)
Exon (1)260..513
Gene:GSC2
Gene Synonym:GSCL
Exon (2)514..618
Gene:GSC2
Gene Synonym:GSCL
Translation MAAAAGGAASRRGAGRPCPFSIEHILSSLPERSLPARAACPPQPAGRQSPAKPEEPGAPE AAPCACCCCCGPRAAPCGPPEAAAGLGARLAWPLRLGPAVPLSLGAPAGGSGALPGAVGP GSQRRTRRHRTIFSEEQLQALEALFVQNQYPDVSTRERLAGRIRLREERVEVWFKNRRAK WRHQKRASASARLLPGVKKSPKGSC
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Position Chain Variation Link
139+dbSNP:
139+c, tdbSNP:34341950
complement(344)-dbSNP:
complement(344)-g, adbSNP:201999846
complement(383)-t, cdbSNP:371048481
complement(396)-t, gdbSNP:369214059
complement(399)-g, adbSNP:201641909
complement(413)-t, adbSNP:139135169
complement(428)-g, adbSNP:373129961
complement(437)-c, adbSNP:201758715
complement(481)-c, adbSNP:369407676
complement(491)-t, cdbSNP:375338678
complement(498)-g, adbSNP:374984299
complement(499)-c, adbSNP:201213674
complement(537)-dbSNP:
complement(537)-g, adbSNP:200498860
complement(557)-t, cdbSNP:202084657
complement(584)-g, c, adbSNP:113172815
complement(592)-t, cdbSNP:143095407
complement(614)-g, cdbSNP:73390724
Gene SymbolGSC2
Gene SynonymGSCL
Chromosome22
Locus Map22q11.21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005315 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. On-demand TBD TBD
Title Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis .
Author Inouye M, Ripatti S, Kettunen J, Lyytikainen LP, Oksala N, Laurila PP, Kangas AJ, Soininen P, Savolainen MJ, Viikari J, Kahonen M, Perola M, Salomaa V, Raitakari O, Lehtimaki T, Taskinen MR, Jarvelin MR, Ala-Korpela M, Palotie A and de Bakker PI.
Journal PLoS Genet. 8 (8), E1002907 (2012)
Title Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region .
Author Galili N, Nayak S, Epstein JA and Buck CA.
Journal Dev. Dyn. 218 (1), 102-111 (2000)
Title Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain .
Author Gottlieb S, Hanes SD, Golden JA, Oakey RJ and Budarf ML.
Journal Hum. Mol. Genet. 7 (9), 1497-1505 (1998)
Title Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11 .
Author Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A and Morrow BE.
Journal Genomics 46 (3), 364-372 (1997)
Title The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development .
Author Gottlieb S, Emanuel BS, Driscoll DA, Sellinger B, Wang Z, Roe B and Budarf ML.
Journal Am. J. Hum. Genet. 60 (5), 1194-1201 (1997)

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