KCNJ6-AS1

Summary

KCNJ6-AS1 (KCNJ6 antisense RNA 1, HGNC:41352) is a long non-coding RNA gene on chromosome 21q22.13.

At a glance

• Clinical variants (ClinVar): 7 total — 1 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41352
Approved symbol	KCNJ6-AS1
Name	KCNJ6 antisense RNA 1
Location	21q22.13
Locus type	RNA, long non-coding
Status	Approved
Ensembl gene	ENSG00000233213
Entrez	105372799
RNAcentral	URS00026A1F1C — lncRNA, 5975 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

Bgee: expression breadth broad, 89 present calls, max score 77.45.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.45	gold quality
skeletal muscle tissue	UBERON:0001134	67.06	gold quality
gall bladder	UBERON:0002110	65.66	gold quality
lymph node	UBERON:0000029	64.43	gold quality
monocyte	CL:0000576	64.38	gold quality
vermiform appendix	UBERON:0001154	62.62	gold quality
islet of Langerhans	UBERON:0000006	61.20	gold quality
muscle of leg	UBERON:0001383	60.34	gold quality
gastrocnemius	UBERON:0001388	59.20	gold quality
metanephros cortex	UBERON:0010533	59.18	gold quality
prefrontal cortex	UBERON:0000451	59.05	gold quality
lower esophagus	UBERON:0013473	58.89	gold quality
lower esophagus muscularis layer	UBERON:0035833	58.78	gold quality
body of stomach	UBERON:0001161	57.81	gold quality
esophagus	UBERON:0001043	57.39	gold quality
subcutaneous adipose tissue	UBERON:0002190	56.27	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	55.73	gold quality
popliteal artery	UBERON:0002250	55.38	gold quality
tonsil	UBERON:0002372	55.38	gold quality
tibial artery	UBERON:0007610	55.30	gold quality
urinary bladder	UBERON:0001255	54.84	gold quality
descending thoracic aorta	UBERON:0002345	54.74	gold quality
myometrium	UBERON:0001296	54.29	gold quality
rectum	UBERON:0001052	54.16	gold quality
blood	UBERON:0000178	54.09	gold quality
heart left ventricle	UBERON:0002084	53.85	gold quality
body of uterus	UBERON:0009853	53.32	gold quality
heart	UBERON:0000948	52.80	gold quality
muscle layer of sigmoid colon	UBERON:0035805	52.72	gold quality
left coronary artery	UBERON:0001626	51.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

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: 1 (showing top): chr21q22

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	3
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
431712	NM_002240.5(KCNJ6):c.512T>G (p.Leu171Arg)	Likely pathogenic

SpliceAI

412 predictions. Top by Δscore:

Variant	Effect	Δscore
21:37715140:T:TC	acceptor_gain	1.0000
21:37715129:TAG:T	acceptor_gain	0.9900
21:37715132:C:CC	acceptor_gain	0.9900
21:37715135:G:C	acceptor_gain	0.9900
21:37715135:G:GC	acceptor_gain	0.9900
21:37715138:G:C	acceptor_gain	0.9900
21:37715138:G:GC	acceptor_gain	0.9900
21:37715139:T:C	acceptor_gain	0.9900
21:37715139:T:TC	acceptor_gain	0.9900
21:37715140:T:C	acceptor_gain	0.9900
21:37715127:GTTAG:G	acceptor_gain	0.9800
21:37715128:TTAG:T	acceptor_gain	0.9800
21:37715131:GCTGG:G	acceptor_loss	0.9800
21:37715132:C:CA	acceptor_loss	0.9800
21:37673394:T:TA	donor_gain	0.9700
21:37714205:TCTTA:T	donor_loss	0.9700
21:37714206:CTTAC:C	donor_loss	0.9700
21:37714207:TTACC:T	donor_loss	0.9700
21:37714208:TA:T	donor_loss	0.9700
21:37714209:ACCTG:A	donor_loss	0.9700
21:37714210:C:CT	donor_loss	0.9700
21:37715130:AG:A	acceptor_gain	0.9700
21:37673405:T:A	donor_gain	0.9600
21:37673459:T:TA	donor_gain	0.9200
21:37714204:ATCTT:A	donor_loss	0.9200
21:37714209:A:AC	donor_gain	0.9000
21:37714210:C:CC	donor_gain	0.9000
21:37681521:TAA:T	donor_gain	0.8900
21:37681522:AAA:A	donor_gain	0.8900
21:37673296:T:A	donor_gain	0.8700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000012826 (21:37721773 A>G), RS1000064337 (21:37715116 C>A), RS1000225617 (21:37725364 G>A), RS1000293230 (21:37709756 T>C), RS1000359074 (21:37732338 C>T), RS1000400638 (21:37720810 C>T), RS1000447464 (21:37716282 C>G,T), RS1000484002 (21:37736595 G>A), RS1000494108 (21:37737086 A>G), RS1000632978 (21:37697678 T>C), RS1000644249 (21:37702923 C>T), RS1000651670 (21:37721358 C>G), RS1000747304 (21:37731330 T>C), RS1000813454 (21:37732583 A>G), RS1000864638 (21:37732903 A>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:614098

GenCC curated gene-disease

Mondo (1): Keppen-Lubinsky syndrome (MONDO:0013572)

Orphanet (1): Keppen-Lubinsky syndrome (Orphanet:435628)

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

Clinical trials (associated diseases)

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