ESS2 (ess-2 spliceosome associated protein)

Gene

• Entrez ID: 8220
• Gene name: Ess-2 spliceosome associated protein
• Gene symbol: ESS2
• Synonyms (NCBI Gene): DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1
• Chromosome: 22
• Chromosome location: 22q11.21|22q11.2
• 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,

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT616886	hsa-miR-4310	HITS-CLIP	23824327
MIRT616885	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT616884	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT616883	hsa-miR-5193	HITS-CLIP	23824327
MIRT616882	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616881	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT616880	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT616879	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT616878	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT616877	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT616876	hsa-miR-6881-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	34694367
GO:0005515	Function	Protein binding	IPI	22365833, 28514442, 32296183, 32814053, 33961781, 34694367
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	8703114
GO:0005681	Component	Spliceosomal complex	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007399	Process	Nervous system development	ISS	8703114
GO:0008380	Process	RNA splicing	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

Other IDs

• MIM: 601755
• HGNC: 16817
• e!Ensembl: ENSG00000100056

Protein

• UniProt ID: Q96DF8
• Protein name: Splicing factor ESS-2 homolog (DiGeorge syndrome critical region 13) (DiGeorge syndrome critical region 14) (DiGeorge syndrome protein H) (DGS-H) (Protein ES2)
• Protein function: May be involved in pre-mRNA splicing.
• PDB: 8C6J, 8RO2, 9FMD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09751	Es2	34 → 401	Nuclear protein Es2	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta. {ECO:0000269|PubMed:8776594}.
• Sequence:

  METPGASASSLLLPAASRPPRKREAGEAGAATSKQRVLDEEEYIEGLQTVIQRDFFPDVE
  KLQAQKEYLEAEENGDLERMRQIAIKFGSALGKMSREPPPPYVTPATFETPEVHAGTGVV
  GNKPRPRGRGLEDGEAGEEEEKEPLPSLDVFLSRYTSEDNASFQEIMEVAKERSRARHAW
  LYQAEEEFEKRQKDNLELPSAEHQAIESSQASVETWKYKAKNSLMYYPEGVPDEEQLFKK
  PRQVVHKNTRFLRDPFSQALSRCQLQQAAALNAQHKQGKVGPDGKELIPQESPRVGGFGF
  VATPSPAPGVNESPMMTWGEVENTPLRVEGSETPYVDRTPGPAFKILEPGRRERLGLKMA
  NEAAAKNRAKKQEALRRVTENLASLTPKGLSPAMSPALQRLVSRTASKYTDRALRASYTP
  SPARSTHLKTPASGLQTPTSTPAPGSATRTPLTQDPASITDNLLQLPARRKASDFF

• Sequence length: 476

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VELOCARDIOFACIAL SYNDROME	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	29651967		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29651967		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26572665		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27875779		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29070944, 29249230, 29304508, 30741827		★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26892398		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26892398		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30531924		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27875779		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30531924		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29651967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30121214		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20864247, 31162877		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25980413, 29651967		★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30121214		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12476324, 16432632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12476324, 16432632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral primary pulmonary dysgenesis	Pulmonary dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only