Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	145258
Gene name	Goosecoid homeobox
Gene symbol	GSC
Synonyms (NCBI Gene)	GSC1SAMS
Chromosome	14
Chromosome location	14q32.13
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 developme

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019699	hsa-miR-375	Microarray	20215506
MIRT1035666	hsa-miR-19a	CLIP-seq
MIRT1035667	hsa-miR-19b	CLIP-seq
MIRT1035668	hsa-miR-3120-5p	CLIP-seq
MIRT1035669	hsa-miR-331-5p	CLIP-seq
MIRT1035670	hsa-miR-3620	CLIP-seq
MIRT1035671	hsa-miR-3714	CLIP-seq
MIRT1035672	hsa-miR-4444	CLIP-seq
MIRT1035673	hsa-miR-4640-3p	CLIP-seq
MIRT1035674	hsa-miR-4696	CLIP-seq
MIRT1035675	hsa-miR-4708-3p	CLIP-seq
MIRT1035676	hsa-miR-4775	CLIP-seq
MIRT1035677	hsa-miR-516a-5p	CLIP-seq
MIRT1035678	hsa-miR-551a	CLIP-seq
MIRT1035679	hsa-miR-551b	CLIP-seq
MIRT1035680	hsa-miR-562	CLIP-seq
MIRT1035681	hsa-miR-885-3p	CLIP-seq
MIRT2465418	hsa-miR-1587	CLIP-seq
MIRT2465419	hsa-miR-378g	CLIP-seq
MIRT2465420	hsa-miR-3944-3p	CLIP-seq
MIRT2465421	hsa-miR-4492	CLIP-seq
MIRT2465422	hsa-miR-4498	CLIP-seq
MIRT2465423	hsa-miR-4656	CLIP-seq
MIRT2465424	hsa-miR-4675	CLIP-seq
MIRT2465425	hsa-miR-4731-5p	CLIP-seq
MIRT2465426	hsa-miR-4741	CLIP-seq
MIRT2465427	hsa-miR-762	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
EVX1	Repression	22178155

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007369	Process	Gastrulation	NAS	7916327
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0014036	Process	Neural crest cell fate specification	IMP	24290375
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	ISS
GO:0043583	Process	Ear development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048644	Process	Muscle organ morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
138890	4612	ENSG00000133937

P56915

Protein name

Homeobox protein goosecoid

Protein 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

PDB

2DMU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	161 → 217	Homeodomain	Domain

Sequence

MPASMFSIDNILAARPRCKDSVLPVAHSAAAPVVFPALHGDSLYGASGGASSDYGAFYPR
PVAPGGAGLPAAVSGSRLGYNNYFYGQLHVQAAPVGPACCGAVPPLGAQQCSCVPTPPGY
EGPGSVLVSPVPHQMLPYMNVGTLSRTELQLLNQLHCRRKRRHRTIFTDEQLEALENLFQ
ETKYPDVGTREQLARKVHLREEKVEVWFKNRRAKWRRQKRSSSEESENAEKWNKTSSSKA
SPEKREEEGKSDLDSDS

Sequence length

257

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	Pathogenic	rs587777288, rs587777289, rs587777290	RCV000114411 RCV000114412 RCV000114413

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GSC-related disorder	Likely benign; Benign	rs2503562892, rs755704451, rs145932252	RCV003934662 RCV004758764 RCV003935994
See cases	Uncertain significance	rs1348239887	RCV002253113

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	25343336
Glioblastoma	Associate	34066996
Glioma	Associate	28410224
Neoplasm Metastasis	Stimulate	25343336
Orofacial Cleft 1	Associate	28232668

GSC (goosecoid homeobox)