KCNQ1DN
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Also known as BWRTHSA404617
Summary
KCNQ1DN (KCNQ1 downstream neighbor, HGNC:13335) is a long non-coding RNA gene on chromosome 11p15.4.
Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).
Source: NCBI Gene 55539 — RefSeq curated summary.
At a glance
- Gene type: non-coding (lncRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13335 |
| Approved symbol | KCNQ1DN |
| Name | KCNQ1 downstream neighbor |
| Location | 11p15.4 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Aliases | BWRT, HSA404617 |
| Ensembl gene | ENSG00000237941 |
| Ensembl biotype | lncRNA |
| OMIM | 610980 |
| Entrez | 55539 |
| RNAcentral | URS000075B205 — lncRNA, 1109 nt, 1 organism(s) |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 lncRNA
ENST00000441418
RefSeq mRNA: 0 — MANE Select: None
Canonical transcript exons
ENST00000441418 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001635900 | 2871845 | 2872105 |
| ENSE00001691872 | 2870033 | 2870864 |
Expression profiles
Bgee: expression breadth broad, 78 present calls, max score 92.36.
Top tissues by expression
78 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.36 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 80.80 | gold quality |
| substantia nigra | UBERON:0002038 | 62.98 | gold quality |
| left testis | UBERON:0004533 | 61.19 | gold quality |
| testis | UBERON:0000473 | 60.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 58.77 | silver quality |
| right testis | UBERON:0004534 | 58.63 | gold quality |
| Ammon’s horn | UBERON:0001954 | 58.17 | gold quality |
| prefrontal cortex | UBERON:0000451 | 56.73 | gold quality |
| lymph node | UBERON:0000029 | 56.61 | gold quality |
| putamen | UBERON:0001874 | 54.22 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 53.81 | gold quality |
| hypothalamus | UBERON:0001898 | 53.34 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 53.23 | silver quality |
| frontal cortex | UBERON:0001870 | 53.14 | gold quality |
| multicellular organism | UBERON:0000468 | 51.88 | gold quality |
| muscle of leg | UBERON:0001383 | 51.70 | gold quality |
| cortex of kidney | UBERON:0001225 | 51.66 | gold quality |
| cerebral cortex | UBERON:0000956 | 51.53 | gold quality |
| temporal lobe | UBERON:0001871 | 51.42 | gold quality |
| amygdala | UBERON:0001876 | 51.26 | gold quality |
| brain | UBERON:0000955 | 50.91 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 50.54 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 50.16 | gold quality |
| primary visual cortex | UBERON:0002436 | 49.86 | silver quality |
| blood | UBERON:0000178 | 49.16 | silver quality |
| monocyte | CL:0000576 | 48.95 | silver quality |
| right lobe of liver | UBERON:0001114 | 48.91 | silver quality |
| caudate nucleus | UBERON:0001873 | 48.55 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 48.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.33 |
Regulation
Is transcription factor: no
Cross-species orthologs
0 orthologs
Protein
Non-coding RNA — no protein product; not a drug target.
Function
No curated pathway, Gene-Ontology, or interaction data.
Disease & clinical
No curated disease, variant, or cancer-driver associations.
Drugs & pharmacology
No drug or pharmacology data — not an established drug target.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): malaria