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GSC2 goosecoid homeobox 2 [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

Disorder Html:
CloneID RefSeq Accession Definition **Vector *Turnaround time Price
OHu31306 NM_005315 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. pcDNA3.1-C-(k)DYK Not in stock -1 Starting from $99.00

*Business Day
**You may select a custom vector to replace pcDNA3.1-C-(k)DYK after clone is added to cart.



CloneID OHu31306D
Sequence Information ORF Nucleotide Sequence (Length: 618bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
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.