ESS2 (ess-2 spliceosome associated protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8220
Gene name Ess-2 spliceosome associated protein
Gene symbol ESS2
Synonyms (NCBI Gene)
DGCR13DGCR14DGS-HDGS-IDGSHDGSIES2ESS-2Es2elbis1
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 miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601755 16817 ENSG00000100056
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 476
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs148317214 RCV005930967
Familial cancer of breast Uncertain significance rs148317214 RCV005930966
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Death Associate 34042246