ESS2 - ess-2 splicing factor homolog Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8220

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA

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

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	ESS2	NCBI