Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8220
Gene name Gene Name - the full gene name approved by the HGNC.	Ess-2 spliceosome associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ESS2
Synonyms (NCBI Gene) Gene synonyms aliases	DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21\|22q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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,

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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

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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

MIM	HGNC	e!Ensembl
601755	16817	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

Interactions

View interactions

ESS2 (ess-2 spliceosome associated protein)