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] See more...

Aliases for GSC Gene

Aliases for GSC Gene

  • Goosecoid Homeobox 2 3 5
  • Homeobox Protein Goosecoid 3 4
  • SAMS 3
  • GSC 5

External Ids for GSC Gene

Previous GeneCards Identifiers for GSC Gene

  • GC14U990025
  • GC14M089051
  • GC14M093224
  • GC14M094304
  • GC14M095234
  • GC14M075414

Summaries for GSC Gene

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 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities and Microtia. Among its related pathways are Regulation of retinoblastoma protein and Regulation of nuclear SMAD2/3 signaling. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II repressing transcription factor binding. An important paralog of this gene is GSC2.

UniProtKB/Swiss-Prot Summary for GSC Gene

  • 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). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.

Gene Wiki entry for GSC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSC Gene

Genomics for GSC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J094768 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.6 612 2.2 ZNF341 CTBP1 SIN3A KLF9 YY1 SP2 KLF16 CBX8 SMARCE1 POLR2A ENSG00000285205 GSC GSC-DT HSALNG0103390 SCARNA13 SNHG10 DICER1 RPSAP4 SERPINA3
GH14J094771 Enhancer 0.4 ENCODE 250.7 -1.2 -1166 0.2 CBX8 EZH2 CHD2 ENSG00000285205 GSC GSC-DT HSALNG0103390 HSALNG0103391 DICER1
GH14J094770 Enhancer 0.3 ENCODE 250.7 -0.9 -866 0.2 CBX8 EZH2 ENSG00000285205 GSC GSC-DT HSALNG0103390 HSALNG0103391 DICER1
GH14J094777 Enhancer 0.3 ENCODE 250.7 -1.4 -1386 0.2 EZH2 CHD2 ENSG00000285205 GSC GSC-DT HSALNG0103390 HSALNG0103391 DICER1
GH14J095220 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.2 -451.7 -451676 3.3 CEBPA ZIC2 RXRA FOXA2 ZBTB33 JUND HNF4A RAD21 REST MAX CLMN GSC piR-38352-184 piR-36588-165 DICER1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSC

Top Transcription factor binding sites by QIAGEN in the GSC gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • MyoD
  • Nkx2-5

Genomic Locations for GSC Gene

Latest Assembly
chr14:94,768,223-94,770,113
(GRCh38/hg38)
Size:
1,891 bases
Orientation:
Minus strand

Previous Assembly
chr14:95,234,560-95,236,450
(GRCh37/hg19 by Entrez Gene)
Size:
1,891 bases
Orientation:
Minus strand

chr14:95,234,553-95,236,562
(GRCh37/hg19 by Ensembl)
Size:
2,010 bases
Orientation:
Minus strand

Genomic View for GSC Gene

Genes around GSC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSC Gene

Proteins for GSC Gene

  • Protein details for GSC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56915-GSC_HUMAN
    Recommended name:
    Homeobox protein goosecoid
    Protein Accession:
    P56915
    Secondary Accessions:
    • Q86YR1

    Protein attributes for GSC Gene

    Size:
    257 amino acids
    Molecular mass:
    28150 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GSC Gene

neXtProt entry for GSC Gene

Post-translational modifications for GSC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSC Gene

Domains & Families for GSC Gene

Gene Families for GSC Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GSC Gene

Suggested Antigen Peptide Sequences for GSC Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein goosecoid (GSC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56915

UniProtKB/Swiss-Prot:

GSC_HUMAN :
  • Belongs to the paired homeobox family. Bicoid subfamily.
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.
genes like me logo Genes that share domains with GSC: view

Function for GSC Gene

Molecular function for GSC Gene

UniProtKB/Swiss-Prot 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). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.
GENATLAS Biochemistry:
Xenopus goosecoid homologous,homeo domain encoding gene,expressed during,and involved in,gastrulation process

Phenotypes From GWAS Catalog for GSC Gene

Gene Ontology (GO) - Molecular Function for GSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001085 RNA polymerase II transcription factor binding IEA,ISS --
GO:0001103 RNA polymerase II repressing transcription factor binding IEA,ISS --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
genes like me logo Genes that share ontologies with GSC: view
genes like me logo Genes that share phenotypes with GSC: view

Human Phenotype Ontology for GSC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GSC Gene

MGI Knock Outs for GSC:
  • Gsc Gsc<tm1Bhr>
  • Gsc Gsc<tm2Bhr>
  • Gsc Gsc<tm1Pgr>

miRNA for GSC Gene

miRTarBase miRNAs that target GSC
Targeted motifs for GSC Gene
HOMER Transcription Factor Regulatory Elements motif GSC
  • Consensus sequence: RGGATTAR Submotif: canonical Cell Type: FrogEmbryos

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSC

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GSC Gene

Localization for GSC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSC Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSC gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with GSC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSC Gene

Pathways & Interactions for GSC Gene

genes like me logo Genes that share pathways with GSC: view

SIGNOR curated interactions for GSC Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007369 gastrulation NAS 7916327
genes like me logo Genes that share ontologies with GSC: view

Drugs & Compounds for GSC Gene

No Compound Related Data Available

Transcripts for GSC Gene

mRNA/cDNA for GSC Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSC

Alternative Splicing Database (ASD) splice patterns (SP) for GSC Gene

No ASD Table

Relevant External Links for GSC Gene

GeneLoc Exon Structure for
GSC

Expression for GSC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSC Gene

This gene is overexpressed in Breast - Mammary Tissue (x12.7), Adipose - Subcutaneous (x6.1), and Adipose - Visceral (Omentum) (x5.1).

Protein differential expression in normal tissues from HIPED for GSC Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GSC Gene



Protein tissue co-expression partners for GSC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSC

SOURCE GeneReport for Unigene cluster for GSC Gene:

Hs.440438

Evidence on tissue expression from TISSUES for GSC Gene

  • Blood(4)
  • Bone(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GSC Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
Thorax:
  • scapula
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • skin
genes like me logo Genes that share expression patterns with GSC: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for GSC Gene

Orthologs for GSC Gene

This gene was present in the common ancestor of animals.

Orthologs for GSC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSC 30 31
  • 99.61 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GSC 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GSC 30 31
  • 94.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GSC 30 31
  • 94.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gsc 30 17 31
  • 92.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsc 30
  • 92.71 (n)
Oppossum
(Monodelphis domestica)
Mammalia GSC 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GSC 30 31
  • 81.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GSC 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gsc 30
  • 71.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397748 30
Zebrafish
(Danio rerio)
Actinopterygii gsc 30 31
  • 69.33 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Gsc 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-45 31
  • 31 (a)
OneToMany
Species where no ortholog for GSC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GSC Gene

ENSEMBL:
Gene Tree for GSC (if available)
TreeFam:
Gene Tree for GSC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSC: view image

Paralogs for GSC Gene

(2) SIMAP similar genes for GSC Gene using alignment to 1 proteins:

  • GSC_HUMAN
genes like me logo Genes that share paralogs with GSC: view

Variants for GSC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSC Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs117555620 Benign: not provided 94,769,021(-) G/A
NM_173849.2(GSC):c.552C>T (p.Tyr184=)
SYNONYMOUS
rs1284191040 Likely Benign: not provided 94,768,521(-) T/C
NM_173849.2(GSC):c.744A>G (p.Glu248=)
SYNONYMOUS
rs144777037 Benign: not provided 94,769,153(-) G/A
NM_173849.2(GSC):c.420C>T (p.Asn140=)
SYNONYMOUS
rs145932252 Benign: not provided 94,769,802(-) C/T
NM_173849.2(GSC):c.214G>A (p.Ala72Thr)
MISSENSE
rs1595158048 Likely Benign: not provided 94,769,989(-) G/A
NM_173849.2(GSC):c.27C>T (p.Asp9=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GSC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GSC Gene

Variant ID Type Subtype PubMed ID
esv3635390 CNV gain 21293372
nsv470662 CNV gain 18288195

Variation tolerance for GSC Gene

Gene Damage Index Score: 2.62; 45.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSC Gene

Human Gene Mutation Database (HGMD)
GSC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSC Gene

Disorders for GSC Gene

MalaCards: The human disease database

(6) MalaCards diseases for GSC Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GSC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GSC_HUMAN
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) [MIM:602471]: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes. {ECO:0000269 PubMed:24290375}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GSC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GSC: view

No data available for Genatlas for GSC Gene

Publications for GSC Gene

  1. Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1. (PMID: 7916327) Blum M … Sparkes RS (Genomics 1994) 2 3 4 23
  2. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. (PMID: 24290375) Parry DA … Johnson CA (American journal of human genetics 2013) 3 4 74
  3. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. (PMID: 19935299) Zhang QG … Shen H (Plastic and reconstructive surgery 2009) 3 23 41
  4. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson AD … Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (Diabetes 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for GSC Gene

Sources for GSC Gene