GSC2 - goosecoid homeobox 2 Gene

Homo sapiens

Also known as GSCL

Gene ID: 2928 | Gene type: protein coding

About GSC2

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,146,993-19,150,292 (from NCBI)

This gene has 1 transcript (splice variant), 133 orthologues and 50 paralogues. Low expression observed in reference dataset.

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 disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic 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]

GSC2 Products(1)

mRNA	Protein	Name
NM_005315.2	NP_005306.1	homeobox protein goosecoid-2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	9700206	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23332764	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9700206	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GSC2 Protein Structure

Homeobox

0
100
205 a.a.

Protein Preferred Names

Protein Names

homeobox protein goosecoid-2

GSC2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GSC2	O15499	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	32296183
Intra	GSC2	O15499	GCM2	Homo sapiens	O75603	Validated Y2H	32296183
Intra	GSC2	O15499	LCE3E	Homo sapiens	Q5T5B0	Validated Y2H	32296183
Intra	GSC2	O15499	MORF4L1	Homo sapiens	Q9UBU8-2	Validated Y2H	32296183
Intra	GSC2	O15499	KRT34	Homo sapiens	O76011	Validated Y2H	32296183
Intra	GSC2	O15499	CALR	Homo sapiens	P27797	Validated Y2H	32296183
Intra	GSC2	O15499	PRKAB2	Homo sapiens	O43741	Validated Y2H	32296183
Intra	GSC2	O15499	MRPS23	Homo sapiens	Q9Y3D9	Validated Y2H	32296183
Intra	GSC2	O15499	C19orf47	Homo sapiens	Q8N9M1-2	Validated Y2H	32296183
Intra	GSC2	O15499	YPEL5	Homo sapiens	P62699	Validated Y2H	32296183
Intra	GSC2	O15499	EGLN3	Homo sapiens	Q9H6Z9	Validated Y2H	32296183
Intra	GSC2	O15499	VCX2	Homo sapiens	Q3SXR9	Validated Y2H	32296183
Intra	GSC2	O15499	ZNF444	Homo sapiens	Q8N0Y2-2	Validated Y2H	32296183
Intra	GSC2	O15499	ASPH	Homo sapiens	Q12797-6	Validated Y2H	32296183
Intra	GSC2	O15499	ALPP	Homo sapiens	P05187	Validated Y2H	32296183
Intra	GSC2	O15499	PDE4C	Homo sapiens	Q08493-2	Validated Y2H	32296183
Intra	GSC2	O15499	SCAF1	Homo sapiens	Q9H7N4	Validated Y2H	32296183
Intra	GSC2	O15499	LTO1	Homo sapiens	Q8WV07	Validated Y2H	32296183
Intra	GSC2	O15499	CRCP	Homo sapiens	O75575-2	Validated Y2H	32296183
Intra	GSC2	O15499	GALNT11	Homo sapiens	Q8NCW6-2	Validated Y2H	32296183
Intra	GSC2	O15499	GTSF1L	Homo sapiens	Q9H1H1	Validated Y2H	32296183
Intra	GSC2	O15499	BEST3	Homo sapiens	Q8N1M1-5	Validated Y2H	32296183
Intra	GSC2	O15499	UBE2R2	Homo sapiens	Q712K3	Validated Y2H	32296183
Intra	GSC2	O15499	MRPL53	Homo sapiens	Q96EL3	Validated Y2H	32296183
Intra	GSC2	O15499	TIPIN	Homo sapiens	Q9BVW5	Validated Y2H	32296183
Intra	GSC2	O15499	HMBOX1	Homo sapiens	Q6NT76	Validated Y2H	32296183
Intra	GSC2	O15499	ETFDH	Homo sapiens	Q16134	Validated Y2H	32296183
Intra	GSC2	O15499	ANXA5	Homo sapiens	P08758	Validated Y2H	32296183
Intra	GSC2	O15499	CSNK2A1	Homo sapiens	P68400	Validated Y2H	32296183
Intra	GSC2	O15499	EIF5A	Homo sapiens	P63241	Validated Y2H	32296183
Intra	GSC2	O15499	C1D	Homo sapiens	Q13901	Validated Y2H	32296183
Intra	GSC2	O15499	KRTAP5-9	Homo sapiens	P26371	Validated Y2H	32296183
Intra	GSC2	O15499	PTER	Homo sapiens	Q96BW5	Validated Y2H	32296183
Intra	GSC2	O15499	KDM6A	Homo sapiens	O15550	Validated Y2H	32296183
Intra	GSC2	O15499	MARF1	Homo sapiens	Q9Y4F3	Validated Y2H	32296183
Intra	GSC2	O15499	DYRK1B	Homo sapiens	Q9Y463	Validated Y2H	32296183
Intra	GSC2	O15499	GTF2H5	Homo sapiens	Q6ZYL4	Validated Y2H	32296183
Intra	GSC2	O15499	ISX	Homo sapiens	Q2M1V0	Validated Y2H	32296183
Intra	GSC2	O15499	KLHL38	Homo sapiens	Q2WGJ6	Validated Y2H	32296183
Intra	GSC2	O15499	ZNF587	Homo sapiens	Q96SQ5	Validated Y2H	32296183
Intra	GSC2	O15499	GUCA1A	Homo sapiens	P43080	Validated Y2H	32296183
Intra	GSC2	O15499	GUCY1A2	Homo sapiens	P33402	Validated Y2H	32296183
Intra	GSC2	O15499	MAPK9	Homo sapiens	P45984	Validated Y2H	32296183
Intra	GSC2	O15499	XRCC4	Homo sapiens	Q13426	Validated Y2H	32296183
Intra	GSC2	O15499	PACSIN2	Homo sapiens	Q9UNF0	Validated Y2H	32296183
Intra	GSC2	O15499	FKBP6	Homo sapiens	O75344	Validated Y2H	32296183
Intra	GSC2	O15499	NME7	Homo sapiens	Q9Y5B8	Validated Y2H	32296183
Intra	GSC2	O15499	CDKN2D	Homo sapiens	P55273	Y2H Prey Pooling	32296183
Intra	GSC2	O15499	CDKN2D	Homo sapiens	P55273	Validated Y2H	32296183
Intra	GSC2	O15499	TSR2	Homo sapiens	Q969E8	Validated Y2H	32296183
Intra	GSC2	O15499	COL8A1	Homo sapiens	P27658	Validated Y2H	32296183
Intra	GSC2	O15499	CIAO2A	Homo sapiens	Q9H5X1	Validated Y2H	32296183
Intra	GSC2	O15499	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
Intra	GSC2	O15499	MAD2L2	Homo sapiens	Q9UI95	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-117651	2-Fluoropalmitic acid	Inhibitor	≥98.0%	Unkown
HY-RS05853	GSC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GSC2	RGD	RGD:1305333
Mus musculus	GSC2	MGD	MGI:892006
Macaca mulatta	GSC2	VGNC	VGNC:73297
Felis catus	GSC2	VGNC	VGNC:107708
Bos taurus	GSC2	VGNC	VGNC:97276

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