GSC2 (goosecoid homeobox 2)

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Gene Transcription factors Gene ontology Other IDs Protein Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2928
• Gene name: Goosecoid homeobox 2
• Gene symbol: GSC2
• Synonyms (NCBI Gene): GSCL
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: 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, craniofacial anomalies, and learning disabi

Transcription factors

Transcription factor	Regulation	Reference
GSC	Unknown	9441739

Gene ontology (GO) Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9441739
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9700206
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9441739
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9700206
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9441739
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9150167
GO:0043565	Function	Sequence-specific DNA binding	IDA	23332764
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 601845
• HGNC: 4613
• e!Ensembl: ENSG00000063515

Protein

• UniProt ID: O15499
• Protein name: Homeobox protein goosecoid-2 (GSC-2) (Homeobox protein goosecoid-like) (GSC-L)
• Protein function: May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	127 → 183	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.
• Sequence:

  MAAAAGGAASRRGAGRPCPFSIEHILSSLPERSLPARAACPPQPAGRQSPAKPEEPGAPE
  AAPCACCCCCGPRAAPCGPPEAAAGLGARLAWPLRLGPAVPLSLGAPAGGSGALPGAVGP
  GSQRRTRRHRTIFSEEQLQALEALFVQNQYPDVSTRERLAGRIRLREERVEVWFKNRRAK
  WRHQKRASASARLLPGVKKSPKGSC

• Sequence length: 205

Related Genes

No strongly related genes found yet for GSC2.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to GSC2.