KCNQ5-IT1

Summary

KCNQ5-IT1 (KCNQ5 intronic transcript 1, HGNC:41354) is a long non-coding RNA gene on chromosome 6q13.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41354
Approved symbol	KCNQ5-IT1
Name	KCNQ5 intronic transcript 1
Location	6q13
Locus type	RNA, long non-coding
Status	Approved
Ensembl gene	ENSG00000233844
Entrez	100507381
RNAcentral	URS000075E8EE — lncRNA, 577 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):

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.65

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): RS1000007224 (6:72648539 G>A), RS1000051423 (6:72659089 T>C), RS1000290458 (6:72641835 G>A), RS1000299131 (6:72652694 A>T), RS1000329614 (6:72628570 A>G), RS1000428664 (6:72634788 G>A), RS1000432303 (6:72634988 T>A), RS1000553968 (6:72672992 T>C), RS1000619683 (6:72665594 A>G), RS1000682023 (6:72641518 G>A), RS1000687542 (6:72671105 C>T), RS1000691085 (6:72660402 T>G), RS1000760020 (6:72633583 C>T), RS1000812216 (6:72633316 G>A), RS1000871867 (6:72677493 T>A)

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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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