SNORD139

Summary

SNORD139 (small nucleolar RNA, C/D box 139, HGNC:50421) is a gene on chromosome 22q13.1.

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).

Source: NCBI Gene 116936 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:50421
Approved symbol	SNORD139
Name	small nucleolar RNA, C/D box 139
Location	22q13.1
Locus type	RNA, small nucleolar
Status	Approved
OMIM	611069
Entrez	116936
RNAcentral	URS00004B7978 — snoRNA, 55 nt, 6 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): RS1000428722 (22:39316470 G>A), RS1000606715 (22:39318835 T>C), RS1000826106 (22:39317388 C>G,T), RS1000933539 (22:39317147 G>A), RS1002052109 (22:39316707 T>C), RS1002279606 (22:39317970 C>A,T), RS1003547319 (22:39318751 C>A,T), RS1004405740 (22:39318170 G>A), RS1004590264 (22:39318287 T>C), RS1004770228 (22:39318833 T>C), RS1007918532 (22:39317351 A>T), RS1008081465 (22:39317129 A>G), RS1009208658 (22:39317403 T>C), RS1010972664 (22:39316909 GCGGAA>G), RS1011209769 (22:39317677 G>C)

Disease associations

OMIM: gene MIM:611069 | 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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
jinfukang	affects cotreatment, decreases expression	1
Cisplatin	decreases expression, affects cotreatment	1
Smoke	increases expression	1
Tunicamycin	increases expression	1

Clinical trials (associated diseases)

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