KCNQ1DN

gene
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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

FieldValue
HGNC IDHGNC:13335
Approved symbolKCNQ1DN
NameKCNQ1 downstream neighbor
Location11p15.4
Locus typeRNA, long non-coding
StatusApproved
AliasesBWRT, HSA404617
Ensembl geneENSG00000237941
Ensembl biotypelncRNA
OMIM610980
Entrez55539
RNAcentralURS000075B205 — 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

ExonStartEnd
ENSE0000163590028718452872105
ENSE0000169187228700332870864

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):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047392.36gold quality
C1 segment of cervical spinal cordUBERON:000646980.80gold quality
substantia nigraUBERON:000203862.98gold quality
left testisUBERON:000453361.19gold quality
testisUBERON:000047360.25gold quality
ganglionic eminenceUBERON:000402358.77silver quality
right testisUBERON:000453458.63gold quality
Ammon’s hornUBERON:000195458.17gold quality
prefrontal cortexUBERON:000045156.73gold quality
lymph nodeUBERON:000002956.61gold quality
putamenUBERON:000187454.22gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099153.81gold quality
hypothalamusUBERON:000189853.34gold quality
skeletal muscle tissueUBERON:000113453.23silver quality
frontal cortexUBERON:000187053.14gold quality
multicellular organismUBERON:000046851.88gold quality
muscle of legUBERON:000138351.70gold quality
cortex of kidneyUBERON:000122551.66gold quality
cerebral cortexUBERON:000095651.53gold quality
temporal lobeUBERON:000187151.42gold quality
amygdalaUBERON:000187651.26gold quality
brainUBERON:000095550.91gold quality
Brodmann (1909) area 9UBERON:001354050.54gold quality
superior frontal gyrusUBERON:000266150.16gold quality
primary visual cortexUBERON:000243649.86silver quality
bloodUBERON:000017849.16silver quality
monocyteCL:000057648.95silver quality
right lobe of liverUBERON:000111448.91silver quality
caudate nucleusUBERON:000187348.55gold quality
dorsolateral prefrontal cortexUBERON:000983448.06gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.33

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.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): malaria