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Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_005315 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. Full Lenth $179.22
ORF Sequence $179.22


RefSeq Version NM_005315.1, 4885362
Length 618 bp
Structure linear
Update Date 12-MAR-2011
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].


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.
RefSeq NP_005306.1
CDS 1..618
Exon (1)1..259
Exon (2)260..513
Exon (3)514..618
Translation MAAAAGGAASRRGAGRPCPFSIEHILSSLPERSLPARAACPPQPAGRQSPAKPEEPGAPE AAPCACCCCCGPRAAPCGPPEAAAGLGARLAWPLRLGPAVPLSLGAPAGGSGALPGAVGP GSQRRTRRHRTIFSEEQLQALEALFVQNQYPDVSTRERLAGRIRLREERVEVWFKNRRAK WRHQKRASASARLLPGVKKSPKGSC
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Position Chain Variation Link
139+c, tdbSNP:34341950
complement(584)-g, cdbSNP:113172815
complement(614)-g, cdbSNP:73390724
Gene SymbolGSC2
Gene SynonymGSCL
Chromosome22
Locus Map22q11.21
All Transcripts NM_005315
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,J.A. and Buck,C.A.
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,S.D., Golden,J.A., Oakey,R.J. and Budarf,M.L.
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,R.K., Kucherlapati,R., Skoultchi,A. and Morrow,B.E.
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,B.S., Driscoll,D.A., Sellinger,B., Wang,Z., Roe,B. and Budarf,M.L.
Journal Am. J. Hum. Genet. 60 (5), 1194-1201 (1997)

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