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GSC2 cDNA ORF clone, Homo sapiens (human)

Gene Symbol GSC2
Entrez Gene ID 2928
Full Name goosecoid homeobox 2
Synonyms GSCL
General protein information
Preferred Names
homeobox protein goosecoid-2
Names
homeobox protein goosecoid-2
GSC-2
GSC-L
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q11.21

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]. lac of sum
Disorder MIM:

601845


mRNA and Protein(s)

mRNA Protein Name
NM_005315 NP_005306 homeobox protein goosecoid-2


Homo sapiens (human) GSC2 NP_005306.1
Macaca mulatta (Rhesus monkey) LOC719051 XP_001112633.2
Mus musculus (house mouse) Gsc2 NP_083745.1
Rattus norvegicus (Norway rat) Gsc2 NP_001102316.1
Gallus gallus (chicken) GSC2 XP_004934385.1
Danio rerio (zebrafish) LOC101885810 XP_005171782.1
Xenopus (Silurana) tropicalis (western clawed frog) gsc2 XP_004911426.1

Component

ID Name Evidence
GO:0005634 nucleus IEA

Function

ID Name Evidence
GO:0003677 DNA binding TAS
GO:0003700 sequence-specific DNA binding transcription factor activity IDA
GO:0043565 sequence-specific DNA binding IEA

Process

ID Name Evidence
GO:0006351 transcription, DNA-dependent IDA
GO:0006351 transcription, DNA-dependent TAS
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA
GO:0009653 anatomical structure morphogenesis TAS

The following GSC2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GSC2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu31306 NM_005315 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $139.30
$199.00

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).


CloneID OHu31306
Accession Version NM_005315.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 618bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product homeobox protein goosecoid-2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U96402.1. 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 SAMEA1968968, SAMEA2148093 [ECO:0000350] ##Evidence-Data-END##

1
61
121
181
241
301
361
421
481
541
601
ATGGCGGCAG CGGCTGGGGG CGCGGCGAGC CGCCGGGGTG CCGGGCGGCC CTGCCCCTTC 
TCCATCGAGC ACATCCTCTC CAGCCTGCCC GAGCGGAGCC TCCCGGCCCG GGCCGCCTGC
CCACCGCAGC CCGCCGGTCG CCAGAGCCCC GCGAAGCCAG AGGAGCCCGG GGCGCCCGAG
GCTGCGCCCT GCGCCTGCTG CTGCTGCTGC GGCCCCCGCG CGGCGCCCTG CGGGCCCCCA
GAGGCGGCCG CCGGGCTGGG CGCTCGTCTG GCGTGGCCGC TGAGGCTGGG ACCGGCGGTG
CCCTTGTCTC TGGGTGCGCC AGCCGGAGGT TCCGGGGCGC TCCCGGGCGC GGTCGGCCCG
GGTTCGCAGC GGCGCACGAG GCGCCACCGC ACCATCTTCA GCGAAGAGCA GCTGCAGGCG
CTCGAGGCGC TTTTCGTGCA GAACCAGTAT CCTGACGTGA GTACGCGCGA GCGCCTGGCC
GGCCGCATCC GCCTTCGCGA GGAGCGCGTG GAGGTCTGGT TCAAGAACCG CCGGGCCAAA
TGGCGACACC AGAAGCGCGC GTCGGCTTCC GCGAGGCTCC TGCCCGGCGT CAAGAAGTCC
CCGAAGGGGA GCTGCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeqNP_005306.1
CDS1..618
Misc Feature(1)379..555(+)
Misc Feature(2)379..549(+)
Misc Feature(3)385..537(+)
Exon (1)1..259
Gene:GSC2
Gene Synonym:
Exon (2)260..513
Gene:GSC2
Gene Synonym:
Exon (3)514..618
Gene:GSC2
Gene Synonym:
Translation
Position Chain Variation Link
139 139 c, t dbSNP:34341950
437 437 g, t dbSNP:201758715
584 584 c, g, t dbSNP:113172815
614 614 c, g dbSNP:73390724

Target ORF information:

RefSeq Version NM_005315
Organism Homo sapiens (human)
Definition Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_005315

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
ATGGCGGCAG CGGCTGGGGG CGCGGCGAGC CGCCGGGGTG CCGGGCGGCC CTGCCCCTTC 
TCCATCGAGC ACATCCTCTC CAGCCTGCCC GAGCGGAGCC TCCCGGCCCG GGCCGCCTGC
CCACCGCAGC CCGCCGGTCG CCAGAGCCCC GCGAAGCCAG AGGAGCCCGG GGCGCCCGAG
GCTGCGCCCT GCGCCTGCTG CTGCTGCTGC GGCCCCCGCG CGGCGCCCTG CGGGCCCCCA
GAGGCGGCCG CCGGGCTGGG CGCTCGTCTG GCGTGGCCGC TGAGGCTGGG ACCGGCGGTG
CCCTTGTCTC TGGGTGCGCC AGCCGGAGGT TCCGGGGCGC TCCCGGGCGC GGTCGGCCCG
GGTTCGCAGC GGCGCACGAG GCGCCACCGC ACCATCTTCA GCGAAGAGCA GCTGCAGGCG
CTCGAGGCGC TTTTCGTGCA GAACCAGTAT CCTGACGTGA GTACGCGCGA GCGCCTGGCC
GGCCGCATCC GCCTTCGCGA GGAGCGCGTG GAGGTCTGGT TCAAGAACCG CCGGGCCAAA
TGGCGACACC AGAAGCGCGC GTCGGCTTCC GCGAGGCTCC TGCCCGGCGT CAAGAAGTCC
CCGAAGGGGA GCTGCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis
PLoS Genet. 8 (8), E1002907 (2012)
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.


book

Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region
Dev. Dyn. 218 (1), 102-111 (2000)
Galili N, Nayak S, Epstein JA and Buck CA.


book

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
Hum. Mol. Genet. 7 (9), 1497-1505 (1998)
Gottlieb S, Hanes SD, Golden JA, Oakey RJ and Budarf ML.


book

Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11
Genomics 46 (3), 364-372 (1997)
Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A and Morrow BE.


book

The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development
Am. J. Hum. Genet. 60 (5), 1194-1201 (1997)
Gottlieb S, Emanuel BS, Driscoll DA, Sellinger B, Wang Z, Roe B and Budarf ML.


 
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