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GSC2 goosecoid homeobox 2 [Homo sapiens (human)]


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

*Business Day

Related Services

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].
Disorder

MIM: 601845

mRNA Protein Product Sequence Price Select
NM_005315, 4885362 NP_005306, 4885363 homeobox protein goosecoid-2 ORF Sequence $250.00
Homo sapiens (human)GSC2NP_005306.1
Macaca mulatta (Rhesus monkey)LOC719051XP_001112633.2
Mus musculus (house mouse)Gsc2NP_083745.1
Rattus norvegicus (Norway rat)Gsc2NP_001102316.1
Gallus gallus (chicken)GSC2XP_004934385.1
Danio rerio (zebrafish)LOC101885810XP_005171782.1
Xenopus (Silurana) tropicalis (western clawed frog)gsc2XP_004911426.1
Process
IDNameEvidence
GO:0006357regulation of transcription from RNA polymerase II promoterIDA
GO:0009653anatomical structure morphogenesisTAS
Component
IDNameEvidence
GO:0005634nucleusIEA
Function
IDNameEvidence
GO:0003677DNA bindingTAS
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0043565sequence-specific DNA bindingIEA
GeneCards GSC2
UniProt O15499
MIM 601845
HGNC 4613
HPRD 03506

Interactant

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