ESS2 - ess-2 splicing factor homolog Gene

Homo sapiens

Also known as ES2; DGSH; DGSI; bis1; DGS-H; DGS-I; ESS-2; Es2el; DGCR13; DGCR14

Gene ID: 8220 | Gene type: protein coding

About ESS2

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,130,279-19,144,651 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 19.7), bone marrow (RPKM 2.7) and 21 other tissues.

Summary

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

ESS2 Products(1)

mRNA	Protein	Name
NM_022719.3	NP_073210.1	splicing factor ESS-2 homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	34694367	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	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

ESS2 Protein Structure

Es2

0
100
200
300
400
476 a.a.

Protein Preferred Names

Protein Names

splicing factor ESS-2 homolog

DiGeorge syndrome critical region gene 13

ESS2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ESS2	Q96DF8	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	ESS2	Q96DF8	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	ESS2	Q96DF8	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	ESS2	Q96DF8	SMARCD1	Homo sapiens	Q96GM5	Validated Y2H	32296183
Intra	ESS2	Q96DF8	PRPF19	Homo sapiens	Q9UMS4	Anti Tag CoIP	33961781
Intra	ESS2	Q96DF8	PRPF19	Homo sapiens	Q9UMS4	Anti Tag CoIP	28514442
Intra	ESS2	Q96DF8	NXF1	Homo sapiens	Q9UBU9	Validated Y2H	32296183
Intra	ESS2	Q96DF8	FRA10AC1	Homo sapiens	Q70Z53	Anti Tag CoIP	33961781
Intra	ESS2	Q96DF8	ARMC7	Homo sapiens	Q9H6L4	Validated Y2H	32296183
Intra	ESS2	Q96DF8	GFAP	Homo sapiens	P14136	Y2H Array	32814053
Intra	ESS2	Q96DF8	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
Intra	ESS2	Q96DF8	GFAP	Homo sapiens	P14136	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Ovarian Clear Cell Carcinoma

Clear-Cell Ovarian Carcinoma

Ovarian Clear Cell Adenocarcinoma

Ovary Adenocarcinoma

Ovarian Adenocarcinoma	Adenocarcinoma Of The Ovary
Ovarian Adenoacanthoma	Adenocarcinoma Of Ovary

Serous Cystadenocarcinoma

Serous Adenocarcinoma	Cystadenocarcinoma, Serous
Serous Carcinoma	Cystadenocarcinoma Serous

Papillary Serous Adenocarcinoma

Micropapillary Serous Carcinoma	Serous Surface Papillary Carcinoma
Papillary Serous Carcinoma	Papillary Serous Cystadenocarcinoma

Malignant Ovarian Surface Epithelial-Stromal Neoplasm

Malignant Ovarian Surface Epithelial-Stromal Tumor

Ovary Epithelial Cancer

Ovarian Surface Epithelial-Stromal Tumor

Epithelial Tumor Of Ovary

Ovarian Cystadenocarcinoma

Cystadenocarcinoma Of Ovary

Cystadenocarcinoma Of The Ovary

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04546	ESS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ESS2	VGNC	VGNC:72280
Felis catus	ESS2	VGNC	VGNC:61970
Canis familiaris	ESS2	VGNC	VGNC:40482
Rattus norvegicus	ESS2	RGD	RGD:1308218
Bos taurus	ESS2	VGNC	VGNC:28611
Mus musculus	ESS2	MGD	MGI:107854

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