EPN2-IT1

Summary

EPN2-IT1 (EPN2 intronic transcript 1, HGNC:41445) is a long non-coding RNA gene on chromosome 17p11.2.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41445
Approved symbol	EPN2-IT1
Name	EPN2 intronic transcript 1
Location	17p11.2
Locus type	RNA, long non-coding
Status	Approved
Entrez	100874309
RNAcentral	URS0000759DC5 — lncRNA, 826 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000797447 (17:19271157 A>AG), RS1001145441 (17:19270227 C>T), RS1001813946 (17:19269463 T>G), RS1002097427 (17:19271382 G>A,C,T), RS1002180367 (17:19274767 T>C,G), RS1002796578 (17:19271027 G>A), RS1002870187 (17:19270661 G>C), RS1003132892 (17:19272341 C>T), RS1003162633 (17:19272092 T>C), RS1003276185 (17:19273784 A>G), RS1004021876 (17:19274416 G>A,C), RS1004068011 (17:19274648 C>T), RS1004424058 (17:19274704 C>G), RS1004980286 (17:19272932 T>C), RS1005075529 (17:19273236 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.