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Set Analyses:

VarElect

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GSC Gene

protein-coding GIFtS: 56
GCID: GC14M095234

Goosecoid Homeobox

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Goosecoid Homeobox¹ ²
Homeobox Protein Goosecoid²
SAMS⁵

External Ids:	HGNC: 4612¹	Entrez Gene: 145258²	Ensembl: ENSG00000133937⁷	OMIM: 138890⁵	UniProtKB: P56915³

Export aliases for GSC gene to outside databases

Previous GC identifers: GC14U990025 GC14M089051 GC14M093224 GC14M094304 GC14M075414

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GSC Gene:

This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded

protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in

craniofacial and rib cage development during embryogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for GSC Gene:

GSC (goosecoid homeobox) is a protein-coding gene. Diseases associated with GSC include miller fisher syndrome, and microtia. GO annotations related to this gene include RNA polymerase II transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PITX1.

UniProtKB/Swiss-Prot: GSC_HUMAN, P56915

Function: Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or

lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural

components of the middle ear; required for the development of the entire tympanic ring (By similarity)

Gene Wiki entry 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)
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RefSeq DNA sequence:

NC_000014.9 NC_018925.2 NT_026437.13

Regulatory elements:

Regulatory transcription factor binding sites in the GSC gene promoter:
COUP-TF1 COUP-TF COUP MyoD HNF-4alpha2 Nkx2-5 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GSC promoter sequence

Search Chromatin IP Primers for GSC

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.1 Ensembl cytogenetic band: 14q32.13 HGNC cytogenetic band: 14q32.13

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

GeneLoc information about chromosome 14 GeneLoc Exon Structure

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

Start:	95,234,553 bp from pter	End:	95,236,562 bp from pter
Size:	2,010 bases	Orientation:	minus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GSC_HUMAN, P56915 (See protein sequence)

Recommended Name: Homeobox protein goosecoid

Size: 257 amino acids; 28150 Da

1 PDB 3D structure from and Proteopedia for GSC:

2DMU (3D)

Secondary accessions: Q86YR1

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

Explore proteomics data for GSC at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See GSC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_776248.1

ENSEMBL proteins:

ENSP00000238558

GSC Human Recombinant Protein Products:

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GSC Antibody Products:

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	Novus Biologicals GSC Antibodies
	Abcam antibodies for GSC
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GSC Assay Products:

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	Cloud-Clone Corp. ELISAs for GSC Cloud-Clone Corp. CLIAs for GSC

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PRD: Homeoboxes / PRD class

3 InterPro protein domains:

IPR017970 Homeobox_CS

IPR001356 Homeobox_dom

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry P56915

ProtoNet protein and cluster: P56915

UniProtKB/Swiss-Prot: GSC_HUMAN, P56915

Similarity: Belongs to the paired homeobox family. Bicoid subfamily

Similarity: Contains 1 homeobox DNA-binding domain

GSC for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: GSC_HUMAN, P56915

Function: Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or

lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural

components of the middle ear; required for the development of the entire tympanic ring (By similarity)

Genatlas biochemistry entry for GSC:

Xenopus goosecoid homologous,homeo domain encoding gene,expressed during,and involved in,gastrulation process

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001085	RNA polymerase II transcription factor binding	ISS	--
GO:0001103	RNA polymerase II repressing transcription factor binding	ISS	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	--	--

GSC for ontologies About GeneDecksing

Phenotypes:
Selected MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gsc) (see all 17):

behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size/body	hearing/vestibular/ear	integument	limbs/digits/tail
mortality/aging	muscle	nervous system	respiratory system	skeleton

GSC for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for GSC: Gsc^tm1Pgr Gsc^tm1Bhr

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GSC

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GSC

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GSC

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

GSC_HUMAN, P56915: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005667	transcription factor complex	IEA	--

GSC for ontologies About GeneDecksing

(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 GeneDecks, 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).
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SuperPaths for GSC About

See pathways by source

SuperPath

Contained pathways About

Regulation of retinoblastoma protein

Regulation of retinoblastoma protein

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

Pathway & Disease-focused RT² Profiler PCR Arrays including GSC:

TGFB/BMP Signaling Pathway in human mouse rat

Cancer PathwayFinder in human mouse rat

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

Interactions:

GeneGlobe Interaction Network for GSC

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

Selected Interacting proteins for GSC (P56915³ ENSP00000238558⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD2	Q15796³, ENSP00000262160⁴	I2D: score=3 STRING: ENSP00000262160
SMAD3	P84022³, ENSP00000332973⁴	I2D: score=3 STRING: ENSP00000332973
WWP2	O00308³, ENSP00000348283⁴	I2D: score=1 STRING: ENSP00000348283
SMAD1	Q15797³, ENSP00000305769⁴	I2D: score=3 STRING: ENSP00000305769
FOXH1	O75593³, ENSP00000366534⁴	I2D: score=1 STRING: ENSP00000366534

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0007369	gastrulation	NAS	7916327
GO:0009653	anatomical structure morphogenesis	--	--
GO:0021904	dorsal/ventral neural tube patterning	IEA	--

GSC for ontologies About GeneDecksing

(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for GSC

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GSC gene:

NM_173849.2

Unigene Cluster for GSC:

Goosecoid homeobox

Hs.440438 [show with all ESTs]

Unigene Representative Sequence: BG112580

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000238558(uc001ydu.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat GSC using miScript Target Protectors
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		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
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		GenScript: all cDNA clones in your preferred vector: GSC (NM_005315)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSC

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

Additional mRNA sequence:

AY177407.1 BC063580.1

2 DOTS entries:

DT.100018623 DT.100660023

11 AceView cDNA sequences:

CA414748 AY177407 NM_173849 BC063580 BQ771765 BQ772276 AI758825 BQ446670

AW138807 BX091000 CB219115

GeneLoc Exon Structure

(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 GeneDecks, 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)
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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

GSC expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 17) fully expand


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

GSC Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GSC Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.440438

Pathway & Disease-focused RT² Profiler PCR Arrays including GSC:

TGFB/BMP Signaling Pathway in human mouse rat

Cancer PathwayFinder in human mouse rat

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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
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		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 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)
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This gene was present in the common ancestor of animals.

Orthologs for GSC gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gsc^{1 , 5}	goosecoid homeobox^{1, 5}	92.71(n)¹ 97.27(a)¹		12 (54.32 cM)⁵ 14836¹ NM_010351.1¹ NP_034481.1¹ 104471210⁵
chicken (Gallus gallus)	Aves	GSC¹	goosecoid homeobox	81.9(n) 89.8(a)		396273 NM_205331.1 NP_990662.1
lizard (Anolis carolinensis)	Reptilia	GSC⁶	goosecoid homeobox	81(a)	1 ↔ 1	1(6723154-6736769)
African clawed frog (Xenopus laevis)	Amphibia	LOC397748²	homeobox protein	75.48(n)		M81481.1
zebrafish (Danio rerio)	Actinopterygii	gsc²	goosecoid	75.22(n)		30212 L03395.1
fruit fly (Drosophila melanogaster)	Insecta	Gsc⁶	Goosecoid	19(a)	1 → many	2L(583540-594810)
worm (Caenorhabditis elegans)	Secernentea	ceh-45⁶	Protein CEH-45 (ceh-45) mRNA, complete cds	31(a)	1 → many	I(1128324-1131737) WBGene00022837

ENSEMBL Gene Tree for GSC (if available)
TreeFam Gene Tree for GSC (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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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

GSC for paralogs About GeneDecksing

(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)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4511463^1,2	C,F,A,H	--	95234173(+)	`AGCTTG/AGAGCA`	1	--	ds500¹		28		NA NS EA WA CSA	2907
rs190854357^1,2	C	--	95234345(+)	`AAACCC/TTCCTA`	1	--	ds500¹		0	--	--	--	--
rs182689395^1,2		--	95234374(+)	`AAACCA/GGGACA`	1	--	ds500¹		0	--	--	--	--
rs3850401^1,2	C,F,A	--	95234442(+)	`GATCAG/TAGCTG`	1	--	ds500¹		14		NA WA CSA EA	516
rs3850402^1,2	C,F,A	--	95234452(+)	`GCTCAA/GTTTTT`	1	--	ds500¹		12		NA WA CSA EA	512
rs138867999^1,2		--	95234753(+)	`CGTGTG/TCAAGA`	1	--	ut3¹		0	--	--	--	--
rs199891655^1,2		--	95234861(+)	`CCTTCC/TTCTTC`	2	E	syn¹		0	--	--	--	--
rs141452513^1,2		--	95234970(+)	`GCGGC-/GGGTTC`	2	R PP	fra¹		0	--	--	--	--
rs202126439^1,2	C	--	95235015(+)	`CAGTTC/TAGATC`	1	--	int¹		0	--	--	--	--
rs201517530^1,2		--	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

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 138890
OMIM disorders: 602471
12 diseases for GSC:
About MalaCards

miller fisher syndrome microtia auditory neuropathy cornelia de lange syndrome

guillain-barre syndrome labyrinthitis digeorge syndrome malignant glioma

neuropathy type 1 diabetes retinoblastoma pancreatitis

GSC for disorders About GeneDecksing

Genetic Association Database (GAD): GSC
Human Genome Epidemiology (HuGE) Navigator: GSC (4 documents)

Export disorders for GSC gene to outside databases

(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)
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PubMed articles for GSC gene, integrated from 10 sources (see all 45):
(articles sorted by number of sources associating them with GSC)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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)
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)
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)
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)
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)
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)
Pedigree and genetic study of a bilateral congenital microtia family. (PubMed id 20195123)¹ Zhang Q....Yin W. (Plast. Reconstr. Surg. 2010)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 145258	HGNC: 4612	AceView: GSC	Ensembl:ENSG00000133937	euGenes: HUgn145258
ECgene: GSC	H-InvDB: GSC

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GSC	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GSC gene
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Patent Information for GSC gene:
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