GSC Gene

Aliases
for GSC gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Previous GC identifers: GC14U990025 GC14M089051 GC14M093224 GC14M094304 GC14M075414

Summaries
for GSC gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Genomic Views
for GSC gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000014.8  NC_018925.2  NT_026437.13  

SwitchGear Promoter luciferase reporter plasmid: GSC promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GSC

GSC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M095234:  view genomic region     (about GC identifiers)

Proteins
for GSC gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

1 PDB 3D structure from and Proteopedia for GSC:

2DMU (3D)    

Explore the universe of human proteins at neXtProt for GSC: NX_P56915

Explore proteomics data for GSC at MOPED

Post-translational modifications: 

GSC Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for GSC OriGene Custom MassSpec OriGene Custom Protein Services for GSC
	GenScript Custom Purified and Recombinant Proteins Services for GSC
	Novus Biologicals GSC Proteins Novus Biologicals GSC Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for GSC
	Search eBioscience for Proteins for GSC
	Search GeneTex for Proteins for GSC
	antibodies-online proteins for GSC (10 products)
	antibodies-online peptides for GSC

GSC Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of GSC
	R&D Systems Antibodies for GSC (Goosecoid)
	OriGene Antibodies for GSC OriGene Custom Antibody Services for GSC
	Novus Biologicals GSC Antibodies
	Abcam antibodies for GSC
	Cloud-Clone Corp. Antibodies for GSC
	ThermoFisher Antibodies for GSC
	antibodies-online antibodies for GSC (62 products)

GSC Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for GSC
	R&D Systems Proteome Profiler Antibody Arrays for GSC (Goosecoid)
	GenScript Custom Assay Services for GSC
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for GSC Cloud-Clone Corp. CLIAs for GSC
	Search eBioscience for ELISAs for GSC
	antibodies-online kits for GSC (6 products)

Domains /
Families
for GSC gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

ProtoNet protein and cluster: P56915

Find genes that share domains with GSC           About GenesLikeMe

Function
for GSC gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

Selected MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gsc)

genOway: Develop your customized and physiologically relevant rodent model for GSC

miRNA Products:		miRTarBase miRNAs that target GSC: hsa-mir-375 (MIRT019699)
		Block miRNA regulation of human, mouse, rat GSC using miScript Target Protectors
		5 qRT-PCR Assays for microRNAs that regulate GSC:
		hsa-miR-885-3p hsa-miR-562 hsa-miR-19b hsa-miR-19a hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: GSC 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for GSC
		Predesigned siRNA for gene silencing in human, mouse, rat GSC

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for GSC

Clone Products:		OriGene clones in human, mouse for GSC (see all 5) OriGene ORF clones in mouse, rat for GSC OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GSC (NM_005315)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSC
		Addgene plasmids for GSC

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GSC
		Browse ESI BIO Cell Lines and PureStem Progenitors for GSC

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC

Localization
for GSC gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5

About this image

Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for GSC gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for GSC About     See pathways by source

Powered by

	SuperPath	Contained pathways About
1	Regulation of retinoblastoma protein	Regulation of retinoblastoma protein
2	Regulation of nuclear SMAD2/3 signaling	Regulation of nuclear SMAD2/3 signaling

2 BioSystems Pathways for GSC

	Regulation of nuclear SMAD2/3 signaling
	Regulation of retinoblastoma protein

Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

Drugs & Compounds
for GSC gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Transcripts
for GSC gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

Expression
for GSC gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GSC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AACGTGGGCA

About this image

Primitive Streak (Early Embryonic Tissues)    fully expand to see all 13 entries
Primitive Streak Cells Anterior Primitive Streak
Mesendoderm-like cells
Epiblast (Early Embryo)    fully expand to see all 7 entries
Primitive Streak Cells Anterior Primitive Streak
Epiblast Stem Cell line 5
Endoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
Mesendoderm Cells Anterior Primitive Streak
Definitive endoderm-like cells
Hypoblast (Extraembryonic Tissues)    fully expand to see all 4 entries
Visceral Endoderm Cells Visceral Endoderm
Hypoblast
Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
Mesendoderm Cells Anterior Primitive Streak
Mesoderm-like cells

Primer Products:		OriGene qPCR primer pairs and template standards for GSC OriGene qSTAR qPCR primer pairs in human, mouse for GSC
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSC
		QuantiTect SYBR Green Assays in human, mouse, rat GSC
		QuantiFast Probe-based Assays in human, mouse, rat GSC

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC

Orthologs
for GSC gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

Paralogs
for GSC gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for GSC gene

PITX1²  OTX2²  UNCX²  VSX1²  HESX1²  PITX2²  VSX2²  PROP1²  

PITX3²  DMBX1²  GSC2²  CRX²  MIXL1²  OTX1²  

2 SIMAP similar genes for GSC using alignment to 1 protein entry:     GSC_HUMAN:

HESX1    POU6F1

Find genes that share paralogs with GSC           About GenesLikeMe

Genomic Variants
for GSC gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

Selected SNPs for GSC (see all 81)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs45114631,2	C,F,A,H	--	95234173(+)	AGCTTG/AGAGCA	1	--	ds5001		28		NA NS EA WA CSA	2907
rs1908543571,2	C	--	95234345(+)	AAACCC/TTCCTA	1	--	ds5001		0	--	--	--	--
rs1826893951,2		--	95234374(+)	AAACCA/GGGACA	1	--	ds5001		0	--	--	--	--
rs38504011,2	C,F,A	--	95234442(+)	GATCAG/TAGCTG	1	--	ds5001		14		NA WA CSA EA	516
rs38504021,2	C,F,A	--	95234452(+)	GCTCAA/GTTTTT	1	--	ds5001		12		NA WA CSA EA	512
rs1388679991,2		--	95234753(+)	CGTGTG/TCAAGA	1	--	ut31		0	--	--	--	--
rs1998916551,2		--	95234861(+)	CCTTCC/TTCTTC	2	E	syn1		0	--	--	--	--
rs1414525131,2		--	95234970(+)	GCGGC-/GGGTTC	2	R PP	fra1		0	--	--	--	--
rs2021264391,2	C	--	95235015(+)	CAGTTC/TAGATC	1	--	int1		0	--	--	--	--
rs2015175301,2		--	95235026(+)	AAAGGA/CGCGCT	1	--	int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for GSC (95234553 - 95236562 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for GSC:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv470662	CNV	Gain	18288195
nsv902208	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): GSC

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing GSC

DNA2.0 Custom Variant and Variant Library Synthesis for GSC

Disorders / Diseases
for GSC gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

Publications
for GSC gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

1. Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1. (PubMed id 7916327)^{1, 2, 3, 9} Blum M.... Sparkes R.S. (Genomics 1994)
2. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. (PubMed id 19935299)^{1, 4, 9} Zhang Q.G....Shen H. (Plast. Reconstr. Surg. 2009)
3. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)^{1, 4} Paterson A.D....Bull S.B. (Diabetes 2010)
4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
5. Joint regulation of the MAP1B promoter by HNF3beta/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors. (PubMed id 12642491)^{1, 9} Foucher I....Trembleau A. (Development 2003)
6. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. (PubMed id 24290375)¹ Parry D.A....Johnson C.A. (Am. J. Hum. Genet. 2013)
7. EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression. (PubMed id 22178155)¹ Kalisz M....Serup P. (Dev. Biol. 2012)
8. Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). (PubMed id 21294870)¹ Hertel J.K....RA ( 2011)
9. Pedigree and genetic study of a bilateral congenital microtia family. (PubMed id 20195123)¹ Zhang Q....Yin W. (Plast. Reconstr. Surg. 2010)
10. A child with deletion (14)(q24.3q32.13) and auditory neuropathy. (PubMed id 18074379)¹ Schlade-Bartusiak K....Cox D.W. (Am. J. Med. Genet. A 2008)

External Searches for GSC gene

Genome Databases showing GSC gene

Other Databases showing GSC gene

Specialized Databases showing GSC gene

Products
for GSC gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section