GSC goosecoid homeobox [Homo sapiens (human)] - Gene

Summary

Official Symbol: GSCprovided by HGNC
Official Full Name: goosecoid homeoboxprovided by HGNC
Primary source: HGNC:HGNC:4612
See related: Ensembl:ENSG00000133937 MIM:138890
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAMS
Summary: 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]
Expression: Biased expression in fat (RPKM 1.7), brain (RPKM 0.2) and 8 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 14q32.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	14	NC_000014.9 (94768223..94770162, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (95234560..95236499, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome.
Title: Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.
We find that DIGIT is divergent to Goosecoid (GSC) and expressed during endoderm differentiation. Deletion of the SMAD3-occupied enhancer proximal to DIGIT inhibits DIGIT and GSC expression and definitive endoderm differentiation.
Title: DIGIT Is a Conserved Long Noncoding RNA that Regulates GSC Expression to Control Definitive Endoderm Differentiation of Embryonic Stem Cells.
5 genomic variants in GSC, HOXA2 and PRKRA were identified through mutational analysis in Chinese patients with microtia.
Title: Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia.
GSC is also a prognostic factor for poor survival and metastasis of HCC, which suggests its potential as a therapeutic target for metastatic HCC.
Title: Goosecoid promotes the metastasis of hepatocellular carcinoma by modulating the epithelial-mesenchymal transition.
Results suggest that GSC is the most potential biomarker of drug response and poor prognosis in ovarian serous carcinomas.
Title: Overexpression of goosecoid homeobox is associated with chemoresistance and poor prognosis in ovarian carcinoma.
EtOH exposure increased the expression of an organizer specific gene, goosecoid, in human embryonic carcinoma cells.
Title: Chronic ethanol exposure increases goosecoid (GSC) expression in human embryonic carcinoma cell differentiation.
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Title: SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
GSC represses EVX1 expression and is required for development of anterior primitive-streak-like cell progeny in response to activin.
Title: EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression.
the 4 recently reported SNPs,located near BNC2, SORCS1, GSC and WDR72 loci, affecting glycemic control in type 1 diabetes had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1 SNP, findings do not rule out possible relationship with HbA1c
Title: Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).
The goosecoid gene mutation in exon 3 may be involved in the malformation events (microtia) in this family.
Title: Pedigree and genetic study of a bilateral congenital microtia family.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities MedGen: C1865361 OMIM: 602471 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
Regulation of nuclear SMAD2/3 signaling
Regulation of retinoblastoma protein, organism-specific biosystem (from Pathway Interaction Database)
Regulation of retinoblastoma protein, organism-specific biosystem
Regulation of retinoblastoma protein

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gsc (e-PCR), detects polymorphism
- UniSTS:547232

Gsc (e-PCR), detects polymorphism
- UniSTS:531418

Homology

Homologs of the GSC gene: The GSC gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 222 organisms have orthologs with human gene GSC
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
RNA polymerase II proximal promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
RNA polymerase II repressing transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
RNA polymerase II transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
dorsal/ventral neural tube patterning	IEA Inferred from Electronic Annotation more info
embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
forebrain development	IEA Inferred from Electronic Annotation more info
gastrulation	NAS Non-traceable Author Statement more info	PubMed
middle ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
muscle organ morphogenesis	IEA Inferred from Electronic Annotation more info
negative regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
neural crest cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nuclear body	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: homeobox protein goosecoid

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.