STPG1

Summary

STPG1 (sperm tail PG-rich repeat containing 1, HGNC:28070) is a protein-coding gene on chromosome 1p36.11, encoding O(6)-methylguanine-induced apoptosis 2 (Q5TH74). May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine.

Involved in positive regulation of apoptotic process and positive regulation of mitochondrial membrane permeability involved in apoptotic process. Predicted to be located in mitochondrion and nucleus.

Source: NCBI Gene 90529 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_001199013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28070
Approved symbol	STPG1
Name	sperm tail PG-rich repeat containing 1
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33340, MAPO2
Ensembl gene	ENSG00000001460
Ensembl biotype	protein_coding
OMIM	615826
Entrez	90529

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 7 protein_coding_CDS_not_defined

ENST00000003583, ENST00000337248, ENST00000374409, ENST00000435187, ENST00000438866, ENST00000468303, ENST00000475760, ENST00000483261, ENST00000483528, ENST00000492753, ENST00000497384, ENST00000498488, ENST00000869689, ENST00000939221, ENST00000939222

RefSeq mRNA: 4 — MANE Select: NM_001199013 NM_001199012, NM_001199013, NM_001199014, NM_178122

CCDS: CCDS253, CCDS55581

Canonical transcript exons

ENST00000337248 — 9 exons

Exon	Start	End
ENSE00001411023	24413674	24413782
ENSE00003516207	24369674	24369839
ENSE00003539806	24360851	24361041
ENSE00003570774	24391561	24391679
ENSE00003631141	24373702	24373810
ENSE00003638281	24401319	24401456
ENSE00003638911	24383902	24384003
ENSE00003688858	24379653	24379823
ENSE00003894270	24356999	24358619

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 89.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4344 / max 93.8257, expressed in 1647 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11041	5.6335	1616
11040	0.7876	475
11043	0.0079	4
11042	0.0054	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	89.38	gold quality
left testis	UBERON:0004533	89.21	gold quality
right uterine tube	UBERON:0001302	88.86	gold quality
testis	UBERON:0000473	87.09	gold quality
bronchial epithelial cell	CL:0002328	86.66	gold quality
oocyte	CL:0000023	86.38	gold quality
bronchus	UBERON:0002185	85.62	gold quality
lateral nuclear group of thalamus	UBERON:0002736	83.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.63	gold quality
prefrontal cortex	UBERON:0000451	83.44	gold quality
buccal mucosa cell	CL:0002336	82.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.28	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.09	gold quality
cerebellar hemisphere	UBERON:0002245	82.08	gold quality
cerebellar cortex	UBERON:0002129	82.03	gold quality
secondary oocyte	CL:0000655	82.01	gold quality
right frontal lobe	UBERON:0002810	81.63	gold quality
cerebellum	UBERON:0002037	81.34	gold quality
mucosa of transverse colon	UBERON:0004991	81.32	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	81.24	gold quality
primary visual cortex	UBERON:0002436	80.96	gold quality
frontal cortex	UBERON:0001870	80.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.54	gold quality
hypothalamus	UBERON:0001898	80.38	gold quality
islet of Langerhans	UBERON:0000006	80.26	gold quality
neocortex	UBERON:0001950	79.95	gold quality
adenohypophysis	UBERON:0002196	79.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.61	gold quality
lower esophagus mucosa	UBERON:0035834	79.53	gold quality
pituitary gland	UBERON:0000007	79.11	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.83
E-CURD-10	no	250.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting STPG1, 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-4668-3P	100.00	68.74	2635
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4492	99.87	68.25	3611
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1207-5P	99.49	69.11	2983

Literature-anchored findings (GeneRIF, showing 1)

• MAPO2 gene product might positively contribute to the induction of apoptosis triggered by O-methylguanine (PMID:23028632)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	stpg1	ENSDARG00000103765
mus_musculus	Stpg1	ENSMUSG00000028801
rattus_norvegicus	Stpg1	ENSRNOG00000031448

Paralogs (5): STPG2 (ENSG00000163116), CIMAP1A (ENSG00000177947), CIMAP1B (ENSG00000177989), CIMAP1D (ENSG00000181781), CIMAP1C (ENSG00000182950)

Protein

Protein identifiers

O(6)-methylguanine-induced apoptosis 2 — Q5TH74 (reviewed: Q5TH74)

Alternative names: Sperm-tail PG-rich repeat-containing protein 1

All UniProt accessions (3): Q5TH74, H0Y4J3, Q5TH77

UniProt curated annotations — full annotation on UniProt →

Function. May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine.

Subcellular location. Cytoplasm. Nucleus.

Similarity. Belongs to the STPG1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5TH74-1	1	yes
Q5TH74-2	2
Q5TH74-3	3

RefSeq proteins (4): NP_001185941, NP_001185942, NP_001185943, NP_835223 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010736	SHIPPO-rpt	Repeat

Pfam: PF07004

UniProt features (21 total): repeat 7, sequence conflict 5, splice variant 3, compositionally biased region 2, chain 1, modified residue 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TH74-F1	63.83	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 72

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_MITOCHONDRIAL_TRANSPORT, RICKMAN_METASTASIS_DN, GOBP_MEMBRANE_ORGANIZATION, GOBP_REGULATION_OF_MEMBRANE_PERMEABILITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr1p36, MIKKELSEN_ES_ICP_WITH_H3K4ME3, GOBP_INTRACELLULAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_MEMBRANE_PERMEABILITY, E2F3_UP.V1_DN, MYC_UP.V1_DN, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES

GO Biological Process (3): positive regulation of apoptotic process (GO:0043065), positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110), apoptotic process (GO:0006915)

GO Molecular Function (0):

GO Cellular Component (3): nucleus (GO:0005634), mitochondrion (GO:0005739), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic process	2
intracellular membrane-bounded organelle	2
regulation of apoptotic process	1
positive regulation of programmed cell death	1
regulation of mitochondrial membrane permeability involved in apoptotic process	1
mitochondrial outer membrane permeabilization involved in programmed cell death	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cytoplasm	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STPG1	RNF208	Q9H0X6	642
STPG1	HMCES	Q96FZ2	507
STPG1	POMGNT2	Q8NAT1	505
STPG1	SLC44A3	Q8N4M1	478
STPG1	TCTN1	Q2MV58	447
STPG1	OR11G2	Q8NGC1	419
STPG1	G3V325	G3V325	398
STPG1	PGBD1	Q96JS3	371
STPG1	ENO1	P06733	352
STPG1	ZSCAN26	Q16670	341
STPG1	ACTR6	Q9GZN1	337
STPG1	CA12	O43570	324
STPG1	ZNF438	Q7Z4V0	321
STPG1	ZMAT4	Q9H898	310
STPG1	GSTCD	Q8NEC7	310

IntAct

2 interactions, top by confidence:

A	B	Type	Score
STPG1	MIPEP	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): PRTFDC1 (Affinity Capture-MS), MIPEP (Affinity Capture-MS), STPG1 (Cross-Linking-MS (XL-MS)), STPG1 (Affinity Capture-RNA)

ESM2 similar proteins: A1A5R9, A2RSX4, A5WUY6, A6QQ60, A8MTA8, A8MYP8, B1AR13, H3BNL1, O94888, P21580, P54277, Q08BC4, Q13542, Q14161, Q14CM0, Q2TBS4, Q3KQ80, Q3UGM2, Q4KLY8, Q4R8V9, Q4R8W3, Q5BK20, Q5M8M2, Q5RDJ2, Q5RDU9, Q5REY7, Q5TH74, Q5ZLS2, Q60769, Q658L1, Q6IE70, Q6KAU4, Q6P5G6, Q6PGH2, Q6ZWH5, Q8BGF7, Q8BQB6, Q8C8J0, Q8IWR0, Q8K2D3

Diamond homologs: A5WUY6, A6QQ60, Q3KQ80, Q4KLY8, Q5TH74, Q9D2F5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1829 predictions. Top by Δscore:

Variant	Effect	Δscore
1:24358615:CGTAG:C	acceptor_gain	1.0000
1:24373696:GCTTA:G	donor_loss	1.0000
1:24373697:CTTA:C	donor_loss	1.0000
1:24373698:TTA:T	donor_loss	1.0000
1:24373699:TA:T	donor_loss	1.0000
1:24379651:A:AC	donor_gain	1.0000
1:24379652:C:CC	donor_gain	1.0000
1:24401330:T:TA	donor_gain	1.0000
1:24401330:TC:T	donor_gain	1.0000
1:24358617:TAG:T	acceptor_gain	0.9900
1:24358618:AG:A	acceptor_gain	0.9900
1:24358618:AGCTG:A	acceptor_loss	0.9900
1:24358619:GC:G	acceptor_loss	0.9900
1:24358620:C:CC	acceptor_gain	0.9900
1:24358622:G:C	acceptor_gain	0.9900
1:24373286:A:C	acceptor_gain	0.9900
1:24373806:GAGGC:G	acceptor_gain	0.9900
1:24373808:GGCC:G	acceptor_loss	0.9900
1:24373811:C:CC	acceptor_gain	0.9900
1:24379652:CA:C	donor_gain	0.9900
1:24379652:CATT:C	donor_gain	0.9900
1:24379820:CGCA:C	acceptor_gain	0.9900
1:24379822:CA:C	acceptor_gain	0.9900
1:24379824:C:CC	acceptor_gain	0.9900
1:24385319:T:TA	donor_gain	0.9900
1:24413670:CTA:C	donor_loss	0.9900
1:24413671:TA:T	donor_loss	0.9900
1:24413672:A:AT	donor_loss	0.9900
1:24413673:CC:C	donor_loss	0.9900
1:24415905:G:GG	donor_gain	0.9900

AlphaMissense

2181 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:24358560:A:G	W330R	0.992
1:24358560:A:T	W330R	0.992
1:24358582:G:C	F322L	0.981
1:24358582:G:T	F322L	0.981
1:24358584:A:G	F322L	0.981
1:24379713:G:C	F134L	0.976
1:24379713:G:T	F134L	0.976
1:24379715:A:G	F134L	0.976
1:24391594:G:C	F52L	0.973
1:24391594:G:T	F52L	0.973
1:24391596:A:G	F52L	0.973
1:24358558:C:A	W330C	0.969
1:24358558:C:G	W330C	0.969
1:24360909:G:C	F290L	0.967
1:24360909:G:T	F290L	0.967
1:24360911:A:G	F290L	0.967
1:24373757:A:C	F172L	0.966
1:24373757:A:T	F172L	0.966
1:24373759:A:G	F172L	0.966
1:24369778:A:C	F211L	0.964
1:24369778:A:T	F211L	0.964
1:24369780:A:G	F211L	0.964
1:24379737:A:C	F126L	0.950
1:24379737:A:T	F126L	0.950
1:24379739:A:G	F126L	0.950
1:24360965:A:G	Y272H	0.946
1:24358559:C:G	W330S	0.943
1:24391573:A:C	F59L	0.933
1:24391573:A:T	F59L	0.933
1:24391575:A:G	F59L	0.933

dbSNP variants (sampled 300 via entrez): RS1000024751 (1:24357255 G>A), RS1000111264 (1:24398670 T>C), RS1000140329 (1:24383053 C>G,T), RS1000276253 (1:24407330 G>C), RS1000354744 (1:24357064 A>G), RS1000451442 (1:24379480 G>C), RS1000517476 (1:24412205 G>T), RS1000541332 (1:24392573 A>G,T), RS1000631905 (1:24388278 G>C), RS1000677860 (1:24362607 G>A,C), RS1000691774 (1:24356835 C>G,T), RS1000704201 (1:24412802 T>A,C), RS1000742448 (1:24381854 T>C,G), RS1000803785 (1:24380079 G>A,T), RS1000812640 (1:24406245 T>A)

Disease associations

OMIM: gene MIM:615826 | disease phenotypes: MIM:606713

GenCC curated gene-disease

Mondo (1): van der Woude syndrome 2 (MONDO:0011712)

Orphanet (1): Van der Woude syndrome (Orphanet:888)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006661_57	Male-pattern baldness	4.000000e-09

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536529	Van der Woude syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
NSC 689534	affects binding, increases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Copper	affects binding, increases expression	1
Lead	affects expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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