SMIM10L2B-AS1

Summary

SMIM10L2B-AS1 (SMIM10L2B antisense RNA 1, HGNC:53137) is a protein-coding gene on chromosome Xq26.3.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53137
Approved symbol	SMIM10L2B-AS1
Name	SMIM10L2B antisense RNA 1
Location	Xq26.3
Locus type	RNA, long non-coding
Status	Approved
Aliases	ENST00000453528
Ensembl gene	ENSG00000228372
Ensembl biotype	protein_coding
Entrez	100287728
RNAcentral	URS000075C493 — lncRNA, 413 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000453528, ENST00000608079, ENST00000663806

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000453528 — 3 exons

Exon	Start	End
ENSE00001592439	135116758	135116926
ENSE00001714760	135123241	135123952
ENSE00001791834	135120527	135120672

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 84.27.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	84.27	gold quality
right testis	UBERON:0004534	84.24	gold quality
testis	UBERON:0000473	83.79	gold quality
bone marrow cell	CL:0002092	66.47	silver quality
sural nerve	UBERON:0015488	66.23	silver quality
ventricular zone	UBERON:0003053	65.17	gold quality
cortical plate	UBERON:0005343	64.76	gold quality
stromal cell of endometrium	CL:0002255	62.45	gold quality
lower esophagus mucosa	UBERON:0035834	61.30	gold quality
bone marrow	UBERON:0002371	58.88	silver quality
metanephros cortex	UBERON:0010533	58.15	gold quality
ganglionic eminence	UBERON:0004023	57.67	gold quality
cortex of kidney	UBERON:0001225	56.32	gold quality
monocyte	CL:0000576	54.59	gold quality
prefrontal cortex	UBERON:0000451	54.30	gold quality
skeletal muscle tissue	UBERON:0001134	54.29	gold quality
lymph node	UBERON:0000029	53.82	gold quality
vermiform appendix	UBERON:0001154	53.51	gold quality
liver	UBERON:0002107	52.31	silver quality
blood	UBERON:0000178	52.30	gold quality
calcaneal tendon	UBERON:0003701	51.96	silver quality
right adrenal gland cortex	UBERON:0035827	51.25	gold quality
islet of Langerhans	UBERON:0000006	50.76	gold quality
kidney	UBERON:0002113	50.34	gold quality
left adrenal gland cortex	UBERON:0035825	50.28	gold quality
adrenal gland	UBERON:0002369	50.11	gold quality
left adrenal gland	UBERON:0001234	49.87	gold quality
right adrenal gland	UBERON:0001233	49.65	gold quality
frontal cortex	UBERON:0001870	49.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	49.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.97

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1600025M17Rik	ENSMUSG00000085114
rattus_norvegicus		ENSRNOG00000064868

Paralogs (3): (ENSG00000293661), (ENSG00000293662), (ENSG00000293663)

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: 7 (showing top): chrXq26, FOXN3_TARGET_GENES, DESCARTES_MAIN_FETAL_SLC26A4_PAEP_POSITIVE_CELLS, GSE29617_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_2008_UP, GSE29617_DAY3_VS_DAY7_TIV_FLU_VACCINE_PBMC_2008_DN, GSE18281_PERIMEDULLARY_CORTICAL_REGION_VS_WHOLE_MEDULLA_THYMUS_DN, GSE41867_DAY6_VS_DAY15_LCMV_ARMSTRONG_EFFECTOR_CD8_TCELL_UP

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

291 predictions. Top by Δscore:

Variant	Effect	Δscore
X:135096969:G:A	donor_gain	0.9900
X:135098029:CTAC:C	donor_loss	0.9900
X:135098030:TA:T	donor_loss	0.9900
X:135098032:C:A	donor_loss	0.9900
X:135098032:CCTTT:C	donor_gain	0.9900
X:135097119:TGC:T	acceptor_gain	0.9800
X:135098399:A:AC	donor_gain	0.9700
X:135098400:C:CC	donor_gain	0.9700
X:135098431:A:AC	donor_gain	0.9700
X:135097119:TGCC:T	acceptor_loss	0.9600
X:135097121:CCT:C	acceptor_loss	0.9600
X:135097122:C:CG	acceptor_loss	0.9600
X:135097123:T:A	acceptor_loss	0.9600
X:135096112:CAG:C	acceptor_gain	0.9500
X:135097122:C:CC	acceptor_gain	0.9500
X:135098031:A:AC	donor_gain	0.9400
X:135098032:C:CC	donor_gain	0.9400
X:135098080:T:TA	donor_gain	0.9400
X:135096295:T:C	acceptor_gain	0.9100
X:135096972:TC:T	donor_gain	0.9100
X:135096994:T:A	donor_gain	0.8900
X:135097118:ATGC:A	acceptor_gain	0.8900
X:135098414:G:A	donor_gain	0.8900
X:135097120:GC:G	acceptor_gain	0.8700
X:135097121:CC:C	acceptor_gain	0.8700
X:135097124:G:C	acceptor_loss	0.8700
X:135096944:C:A	donor_gain	0.8600
X:135096975:A:AC	donor_gain	0.8500
X:135096976:C:CC	donor_gain	0.8500
X:135097117:AATGC:A	acceptor_gain	0.8400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1133828 (X:135123439 T>A,C), RS1133829 (X:135123546 A>G), RS1156704296 (X:135122720 T>C), RS1158655743 (X:135120287 C>T), RS1158679960 (X:135118674 T>C), RS1158717048 (X:135119529 G>A), RS1160530852 (X:135123414 C>T), RS1161132914 (X:135120426 T>G), RS1161184129 (X:135122760 T>C), RS1162750534 (X:135123513 A>G), RS1162973020 (X:135118825 C>G), RS1163180329 (X:135122079 G>A), RS1163821303 (X:135120752 C>A), RS1164690900 (X:135119661 C>T), RS1164744657 (X:135122158 C>T)

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

Clinical trials (associated diseases)

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