GSC2 Gene
protein-coding GIFtS: 43
GCID: GC22M019136
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|
goosecoid homeobox 2(Previous name: goosecoid-like )
(Previous symbol: GSCL)
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Aliases
for GSC2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Goosecoid Homeobox 21 2 | | Goosecoid-Like1 | | GSCL1 2 3 5 | | Homeobox Protein Goosecoid-22 | | GSC-22 3 | | Homeobox Protein Goosecoid-Like3 | | GSC-L2 3 | | |
Export aliases for GSC2 gene to outside databasesPrevious GC identifer: GC22M017516 |
Summaries
for GSC2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GSC2:
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, craniofacialanomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes areassociated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derivefrom the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved inembryonic 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)
UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499Function: May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequenceTAATCC
|
Genomic Views
for GSC2 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011519.10
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GSC2 gene promoter:
GATA-1 E47 PPAR-gamma1 IRF-7A AP-2beta PPAR-gamma2 AP-2alpha AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for GSC2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GSC2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q11.21 Ensembl cytogenetic band: 22q11.21 HGNC cytogenetic band: 22q11.21GSC2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M019136: view genomic region
(about GC identifiers)
Start:
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19,136,089 bp from pter |
End:
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19,137,796 bp from pter |
Size:
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1,708 bases |
Orientation:
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minus strand |
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Proteins
for GSC2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499 (See
protein sequence)Recommended Name: Homeobox protein goosecoid-2 Size: 205 amino acids; 21545 Da
Subcellular location: Nucleus (By similarity)
Developmental stage: Expressed in early human development as well as in a limited number of adult tissuesExplore the universe of human proteins at neXtProt for GSC2: NX_O15499
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O15499
GSC2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005306.1
ENSEMBL proteins: ENSP00000086933
Human Recombinant Protein Products for GSC2:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
GSC2 for ontologies About GeneDecksing
GSC2 Antibody Products:
Assay Products for GSC2: |
Protein
Domains /
Families
for GSC2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GSC2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O15499ProtoNet protein and cluster: O15499 UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499Similarity: Belongs to the paired homeobox family. Bicoid subfamilySimilarity: Contains 1 homeobox DNA-binding domain |
Function
for GSC2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: GSC2_HUMAN, O15499Function: May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequenceTAATCC Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
GSC2 for ontologies About GeneDecksing
Phenotypes:
2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Gsc2):
GSC2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for GSC2: Gsc2tm1Bhr Gsc2tm1Ais
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GSC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GSC2
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Synthesis Service for GSC2 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GSC2 |
|
Pathways & Interactions
for GSC2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GSC2
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for GSC2 (O154993 ENSP000000869334) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006357 | regulation of transcription from RNA polymerase II promoter |
IDA | 9700206 | | GO:0009653 | anatomical structure morphogenesis |
TAS | 9150167 |
GSC2 for ontologies About GeneDecksing
|
Drugs & Compounds
for GSC2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for GSC2
Search CenterWatch for drugs/clinical trials and news about GSC2
|
Transcripts
for GSC2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GSC2 gene: NM_005315.1 Unigene Cluster for GSC2: Goosecoid homeobox 2 Hs.534318 Unigene Representative Sequence: NM_0053151 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000086933(uc011ags.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GSC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GSC2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GSC2 (NM_005315) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GSC2 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GSC2 |
1 DOTS entry: DT.92014810 1 AceView cDNA sequence: NM_005315
GeneLoc Exon Structure
|
Expression
for GSC2 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 GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GSC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See GSC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GSC2
SOURCE GeneReport for Unigene cluster: Hs.534318
UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499Tissue specificity: Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressedin other tissues at low levels
SABiosciences Custom PCR Arrays for GSC2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GSC2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GSC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GSC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GSC2 |
Orthologs
for GSC2 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
|
This gene was present in the common ancestor of animals.
Orthologs for GSC2 gene from 5/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
F1NB58_CHICK6 |
Uncharacterized protein |
36(a) |
1 ↔ 1 |
15(8105501-8107310) |
lizard
(Anolis carolinensis) |
Reptilia |
GSC26 |
-- |
37(a) |
1 ↔ 1 |
GL343282.1(761058-765966) |
zebrafish
(Danio rerio) |
Actinopterygii |
CABZ01090220.16dharma6 |
dharma |
29(a)16(a) |
1 ↔ 1possible ortholog |
5(1385395-1389016) 15(28360384-28361587) |
fruit fly
(Drosophila melanogaster) |
Insecta |
Gsc6 |
Goosecoid |
12(a) |
1 → many |
2L(583540-594810) |
worm
(Caenorhabditis elegans) |
Secernentea |
ceh-456 |
Homeobox family member (ceh-45) |
21(a) |
1 → many |
I(1128327-1131740) |
ENSEMBL Gene Tree for GSC2 (if available)
TreeFam Gene Tree for GSC2 (if available) |
Paralogs
for GSC2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GSC2 gene
- GSC2 OTX22 HESX12 PROP12 ARGFX2 DMBX12 SEBOX2 OTX12
- CRX2 MIXL12
4 SIMAP similar genes for GSC2 using alignment to 1 protein entry: GSC2_HUMAN:RAX2 MIXL1 PITX1 GSC
GSC2 for paralogs About GeneDecksing
|
Genomic Variants
for GSC2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GSC2 (19136089 - 19137796 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GSC2
1 CNV: 31071 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GSC2 |
|
Disorders
/ Diseases
for GSC2 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.)
About This Section
|
GSC2 for disorders About GeneDecksing
OMIM gene information: 601845
OMIM disorders: --
5  diseases for GSC2: About MalaCardscraniofacial anomalies learning disability velocardiofacial syndrome digeorge syndrome
pharyngitis
2 diseases from the University of Copenhagen DISEASES database for GSC2:Velocardiofacial syndrome DiGeorge syndrome Export disorders for GSC2 gene to outside databases
|
Publications
for GSC2 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
|
PubMed articles for GSC2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with GSC2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The DiGeorge syndrome minimal critical region contains a goosecoid- like (GSCL) homeobox gene that is expressed early in human development. (PubMed id 9150167)1, 2, 3, 9 Gottlieb S.... Budarf M.L. (1997)
- Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. (PubMed id 9441739)1, 2 Funke B.... Morrow B.E. (1997)
- Novel Loci for metabolic networks and multi-tissue exp ression studies reveal genes for atherosclerosis. (PubMed id 22916037)1 Inouye M....de Bakker P.I. (2012)
- Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region. (PubMed id 10822263)1 Galili N....Buck C.A. (2000)
- 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. (PubMed id 9700206)1 Gottlieb S....Budarf M.L. (1998)
|
External Searches for GSC2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GSC2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GSC2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GSC2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GSC2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for GSC2 gene:
Search GeneIP for patents involving GSC2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GSC2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for GSC2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GSC2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GSC2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GSC2 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GSC2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GSC2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GSC2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GSC2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GSC2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GSC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GSC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GSC2 |
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 | | | GSC2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | | Search ThermoFisher Antibodies for GSC2 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GSC2 |
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