RTL8B

Summary

RTL8B (retrotransposon Gag like 8B, HGNC:33156) is a protein-coding gene on chromosome Xq26.3, encoding Retrotransposon Gag-like protein 8B (Q17RB0).

At a glance

• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_001078173

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33156
Approved symbol	RTL8B
Name	retrotransposon Gag like 8B
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Aliases	MAR8B, CXX1c, SIRH4
Ensembl gene	ENSG00000212747
Ensembl biotype	protein_coding
Entrez	441518

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000391440

RefSeq mRNA: 1 — MANE Select: NM_001078173 NM_001078173

CCDS: CCDS43996

Canonical transcript exons

ENST00000391440 — 1 exons

Exon	Start	End
ENSE00001509222	135020513	135022542

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 91.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6670 / max 193.9240, expressed in 1538 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200609	21.4733	1538
200608	0.1938	85

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	91.06	gold quality
popliteal artery	UBERON:0002250	90.56	gold quality
tibial artery	UBERON:0007610	90.54	gold quality
thoracic aorta	UBERON:0001515	89.82	gold quality
ascending aorta	UBERON:0001496	89.74	gold quality
left coronary artery	UBERON:0001626	89.70	gold quality
descending thoracic aorta	UBERON:0002345	88.80	gold quality
mucosa of stomach	UBERON:0001199	88.46	gold quality
left adrenal gland cortex	UBERON:0035825	88.46	gold quality
left adrenal gland	UBERON:0001234	88.36	gold quality
right adrenal gland	UBERON:0001233	88.17	gold quality
right adrenal gland cortex	UBERON:0035827	87.85	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.47	gold quality
lower esophagus	UBERON:0013473	87.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	87.21	gold quality
adrenal gland	UBERON:0002369	87.03	gold quality
ectocervix	UBERON:0012249	86.62	gold quality
heart left ventricle	UBERON:0002084	86.52	gold quality
left uterine tube	UBERON:0001303	86.51	gold quality
esophagus	UBERON:0001043	86.25	gold quality
body of uterus	UBERON:0009853	86.00	gold quality
esophagus mucosa	UBERON:0002469	85.60	gold quality
heart	UBERON:0000948	85.44	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.43	gold quality
endocervix	UBERON:0000458	85.14	gold quality
myometrium	UBERON:0001296	85.03	gold quality
vagina	UBERON:0000996	84.71	gold quality
stromal cell of endometrium	CL:0002255	84.66	gold quality
right ovary	UBERON:0002118	84.23	gold quality
subcutaneous adipose tissue	UBERON:0002190	83.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting RTL8B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-7106-5P	99.53	67.47	3574

Literature-anchored findings (GeneRIF, showing 1)

• RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control. (PMID:35247097)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rtl8c	ENSMUSG00000051851
mus_musculus	Rtl8b	ENSMUSG00000067924
mus_musculus	Rtl8a	ENSMUSG00000067925
rattus_norvegicus	Rtl8a	ENSRNOG00000062466

Paralogs (10): RTL8C (ENSG00000134590), RTL3 (ENSG00000179300), LDOC1 (ENSG00000182195), RTL4 (ENSG00000187823), RTL6 (ENSG00000188636), RTL8A (ENSG00000203950), RTL10 (ENSG00000215012), PEG10 (ENSG00000242265), RTL5 (ENSG00000242732), RTL1 (ENSG00000254656)

Protein

Protein identifiers

Retrotransposon Gag-like protein 8B — Q17RB0 (reviewed: Q17RB0)

Alternative names: Mammalian retrotransposon derived protein 8B

All UniProt accessions (1): Q17RB0

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. RTL8B is one of at least 11 genes called Mar or Mart related to long terminal repeat retrotransposons. They do not correspond to functional retrotransposons, but rather to neofunctionalized retrotransposons genes.

Similarity. Belongs to the FAM127 family.

RefSeq proteins (1): NP_001071641* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032549	RTL1/1-8/LDOC_capsid-like	Domain

Pfam: PF16297

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17RB0-F1	89.02	0.70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): MIKKELSEN_IPS_HCP_WITH_H3_UNMETHYLATED, chrXq26, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, GSE10240_CTRL_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, ZNF2_TARGET_GENES, ZNF30_TARGET_GENES, ZNF423_TARGET_GENES, ZNF8_TARGET_GENES, MIR3688_3P, MIR4755_5P, MIR5006_3P, MIR1299, MIR3140_3P, MIR330_5P, MIR326

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

288 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RTL8B	RTL3	Q8N8U3	541
RTL8B	SMIM3	Q9BZL3	479
RTL8B	RTL4	Q6ZR62	474
RTL8B	TMEM40	Q8WWA1	446
RTL8B	TRIQK	Q629K1	441
RTL8B	PNMA6A	P0CW24	431
RTL8B	RTL9	Q8NET4	374
RTL8B	HAUS7	Q99871	368
RTL8B	RNASEK	Q6P5S7	352
RTL8B	PRTFDC1	Q9NRG1	348
RTL8B	UBQLN2	Q9UHD9	341
RTL8B	PCDHGA9	Q9Y5G4	325
RTL8B	KLHL4	Q9C0H6	311
RTL8B	GP1BB	P13224	302
RTL8B	CDC42EP5	Q6NZY7	300
RTL8B	FEZ2	Q9UHY8	300

IntAct

55 interactions, top by confidence:

A	B	Type	Score
ALAS1	RTL8B	psi-mi:“MI:0915”(physical association)	0.720
UBQLN1	RTL8B	psi-mi:“MI:0915”(physical association)	0.720
RTL8B	ALAS1	psi-mi:“MI:0915”(physical association)	0.720
RTL8B	UBQLN1	psi-mi:“MI:0915”(physical association)	0.720
RTL8B	PEG10	psi-mi:“MI:0915”(physical association)	0.720
PEG10	RTL8C	psi-mi:“MI:0914”(association)	0.700
PEG10	RTL8B	psi-mi:“MI:0915”(physical association)	0.670
RTL8B	PEG10	psi-mi:“MI:0915”(physical association)	0.670
PEG10	RTL8C	psi-mi:“MI:0914”(association)	0.670
RTL8B	KRT13	psi-mi:“MI:0915”(physical association)	0.560
CCDC102B	RTL8B	psi-mi:“MI:0915”(physical association)	0.560
RTL8B	TADA2A	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	RTL8B	psi-mi:“MI:0915”(physical association)	0.560
KRT13	RTL8B	psi-mi:“MI:0915”(physical association)	0.560
RTL8B	CCDC102B	psi-mi:“MI:0915”(physical association)	0.560
TADA2A	RTL8B	psi-mi:“MI:0915”(physical association)	0.560
RTL8B	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
RTL8B	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (21): FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Affinity Capture-MS), FAM127C (Two-hybrid), FAM127C (Affinity Capture-MS), FAM127C (Reconstituted Complex), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid), FAM127C (Two-hybrid)

ESM2 similar proteins: A6QLK5, A6ZKI3, D2HBJ8, O15519, O94955, O95751, P0CW24, P10272, Q0V9G5, Q17QF6, Q17RB0, Q1JQ94, Q2TBA3, Q5RD56, Q5RER6, Q5XGZ2, Q63053, Q6NTR6, Q6P5G6, Q6SEH4, Q6SEH5, Q70Z35, Q7JV70, Q7K1U0, Q7LC44, Q7TPY9, Q86TG7, Q8AWC3, Q8C1C8, Q8CA95, Q8N165, Q8N635, Q8ND90, Q8QZR7, Q8TCU6, Q8VHZ4, Q8WNV3, Q96PV4, Q9BWD3, Q9BYG7

Diamond homologs: A6NKG5, A6ZKI3, O95751, Q17QF6, Q17RB0, Q1JQ94, Q52QI2, Q5DTZ0, Q5HYW3, Q6SEH4, Q6SEH5, Q7M732, Q7TPY9, Q9BWD3, Q505G4, Q6ICC9, Q7TN75, Q86TG7, Q8N8U3, Q32KG4, Q5DTT4, Q5R6M8, Q7L3V2, Q6P1Y1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

146 predictions. Top by Δscore:

Variant	Effect	Δscore
X:135022200:T:A	donor_gain	0.8600
X:135022181:A:C	donor_gain	0.8500
X:135022184:A:AC	donor_gain	0.7800
X:135022185:C:CC	donor_gain	0.7800
X:135022163:AG:A	donor_gain	0.6900
X:135022156:T:TA	donor_gain	0.6800
X:135022225:A:AC	donor_gain	0.6700
X:135022226:C:CC	donor_gain	0.6700
X:135022131:T:TA	donor_gain	0.6400
X:135022218:A:AC	donor_gain	0.6400
X:135022080:C:A	donor_gain	0.6300
X:135022204:T:TA	donor_gain	0.6200
X:135022079:T:TA	donor_gain	0.5900
X:135021749:C:CC	acceptor_gain	0.5800
X:135022112:C:CA	donor_gain	0.5800
X:135022262:CG:C	donor_gain	0.5800
X:135022264:TC:T	donor_gain	0.5600
X:135022134:T:TA	donor_gain	0.5300
X:135022164:G:C	donor_gain	0.5300
X:135021747:GT:G	acceptor_gain	0.5200
X:135021816:G:C	donor_gain	0.5200
X:135021746:AGT:A	acceptor_gain	0.5100
X:135021964:C:CT	donor_gain	0.5000
X:135021965:T:TT	donor_gain	0.5000
X:135020638:A:C	acceptor_gain	0.4900
X:135021792:C:CC	acceptor_gain	0.4700
X:135022125:T:TA	donor_gain	0.4500
X:135022159:T:C	donor_gain	0.4500
X:135022263:G:GC	donor_gain	0.4500
X:135022449:CG:C	donor_gain	0.4200

AlphaMissense

740 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:135022145:A:C	F105L	0.998
X:135022145:A:T	F105L	0.998
X:135022147:A:G	F105L	0.998
X:135022286:G:C	F58L	0.998
X:135022286:G:T	F58L	0.998
X:135022288:A:G	F58L	0.998
X:135022331:G:C	F43L	0.998
X:135022331:G:T	F43L	0.998
X:135022333:A:G	F43L	0.998
X:135022361:A:C	F33L	0.998
X:135022361:A:T	F33L	0.998
X:135022363:A:G	F33L	0.998
X:135022169:G:C	F97L	0.997
X:135022169:G:T	F97L	0.997
X:135022171:A:G	F97L	0.997
X:135022259:G:C	F67L	0.997
X:135022259:G:T	F67L	0.997
X:135022261:A:G	F67L	0.997
X:135022170:A:G	F97S	0.996
X:135022332:A:G	F43S	0.996
X:135022223:C:A	W79C	0.995
X:135022223:C:G	W79C	0.995
X:135022225:A:G	W79R	0.995
X:135022225:A:T	W79R	0.995
X:135022245:A:G	L72P	0.994
X:135022356:C:A	G35V	0.994
X:135022257:A:G	L68P	0.992
X:135022356:C:T	G35D	0.992
X:135022248:C:G	R71P	0.990
X:135022287:A:G	F58S	0.990

dbSNP variants (sampled 300 via entrez): RS1003712125 (X:135022734 G>A,T), RS1004664595 (X:135023183 A>G), RS1004973921 (X:135023691 A>G), RS1005805929 (X:135021677 G>A), RS1006555795 (X:135024216 G>A,C), RS1007511373 (X:135023474 G>T), RS1007571963 (X:135023956 G>C), RS1008513835 (X:135021059 G>A), RS1008587214 (X:135022677 G>A,T), RS1009759612 (X:135023420 C>T), RS1010036701 (X:135022852 T>A,G), RS1010627668 (X:135020333 T>C), RS1011138736 (X:135022603 A>G), RS1011180451 (X:135020985 C>T), RS1012269799 (X:135020165 A>G)

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: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
methylparaben	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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