TMEM252

Summary

TMEM252 (transmembrane protein 252, HGNC:28537) is a protein-coding gene on chromosome 9q21.11, encoding Transmembrane protein 252 (Q8N6L7).

Predicted to be located in membrane.

Source: NCBI Gene 169693 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_153237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28537
Approved symbol	TMEM252
Name	transmembrane protein 252
Location	9q21.11
Locus type	gene with protein product
Status	Approved
Aliases	MGC34760
Ensembl gene	ENSG00000181778
Ensembl biotype	protein_coding
Entrez	169693

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377311

RefSeq mRNA: 1 — MANE Select: NM_153237 NM_153237

CCDS: CCDS35040

Canonical transcript exons

ENST00000377311 — 2 exons

Exon	Start	End
ENSE00001473518	68536580	68537493
ENSE00001473519	68540537	68540883

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 86.19.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0865 / max 71.9916, expressed in 12 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100793	0.0865	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	86.19	gold quality
oocyte	CL:0000023	84.84	gold quality
adult mammalian kidney	UBERON:0000082	81.77	gold quality
smooth muscle tissue	UBERON:0001135	78.76	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.51	gold quality
lower esophagus muscularis layer	UBERON:0035833	77.99	gold quality
lower esophagus	UBERON:0013473	77.89	gold quality
mucosa of stomach	UBERON:0001199	77.15	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	76.25	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.69	gold quality
left uterine tube	UBERON:0001303	75.57	gold quality
kidney	UBERON:0002113	75.43	gold quality
popliteal artery	UBERON:0002250	75.30	gold quality
tibial artery	UBERON:0007610	75.29	gold quality
right coronary artery	UBERON:0001625	74.27	gold quality
small intestine	UBERON:0002108	73.33	gold quality
metanephros cortex	UBERON:0010533	72.38	gold quality
body of uterus	UBERON:0009853	71.98	gold quality
aorta	UBERON:0000947	71.81	gold quality
descending thoracic aorta	UBERON:0002345	71.03	gold quality
right atrium auricular region	UBERON:0006631	70.15	gold quality
left coronary artery	UBERON:0001626	69.71	gold quality
cardiac atrium	UBERON:0002081	69.39	gold quality
coronary artery	UBERON:0001621	68.48	gold quality
right adrenal gland cortex	UBERON:0035827	68.21	gold quality
intestine	UBERON:0000160	68.05	gold quality
thoracic aorta	UBERON:0001515	67.60	gold quality
colon	UBERON:0001155	67.36	gold quality
ascending aorta	UBERON:0001496	67.03	gold quality
left adrenal gland	UBERON:0001234	66.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting TMEM252, 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-23B-5P	99.98	66.07	587
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-6126	99.62	68.09	996
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
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-6764-3P	98.44	67.64	1153
HSA-MIR-6824-3P	98.44	67.62	1154

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem252	ENSMUSG00000048572
rattus_norvegicus	Tmem252	ENSRNOG00000025476

Protein

Protein identifiers

Transmembrane protein 252 — Q8N6L7 (reviewed: Q8N6L7)

All UniProt accessions (1): Q8N6L7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_694969* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031363	TMEM252	Family

Pfam: PF15664

UniProt features (4 total): transmembrane region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6L7-F1	73.12	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 33 (showing top): ZHENG_BOUND_BY_FOXP3, chr9q21, MARTENS_TRETINOIN_RESPONSE_UP, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, MIR95_5P, MIR4728_5P, MIR6785_5P, MIR655_3P, MIR374C_5P, MIR149_3P, MIR6883_5P, MIR5010_3P, MIR543, MIR605_3P, MIR376C_3P

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM252	SMCO1	Q147U7	591
TMEM252	SMR3B	P02814	507
TMEM252	CNDP1	Q96KN2	451
TMEM252	VMO1	Q7Z5L0	421
TMEM252	EVA1B	Q9NVM1	410
TMEM252	LNX1	Q8TBB1	404
TMEM252	MPDZ	O75970	404
TMEM252	MAMDC4	Q6UXC1	394
TMEM252	TMEM176A	Q96HP8	391
TMEM252	TCEANC2	Q96MN5	374
TMEM252	PGM5	Q15124	374
TMEM252	NPVF	Q9HCQ7	363
TMEM252	C9orf152	Q5JTZ5	348
TMEM252	KISS1	Q15726	328
TMEM252	COL9A3	Q14050	321

IntAct

18 interactions, top by confidence:

A	B	Type	Score
TMEM252	VAPB	psi-mi:“MI:0915”(physical association)	0.560
VAPB	TMEM252	psi-mi:“MI:0915”(physical association)	0.560
LBX1	TMEM252	psi-mi:“MI:0915”(physical association)	0.560
TMEM252	TMEM147	psi-mi:“MI:0915”(physical association)	0.560
SLC10A6	TMEM252	psi-mi:“MI:0915”(physical association)	0.560
NEDD4	TMEM252	psi-mi:“MI:0407”(direct interaction)	0.440
YAP1	TMEM252	psi-mi:“MI:0407”(direct interaction)	0.440
TMEM252	PRSS2	psi-mi:“MI:0915”(physical association)	0.400
TMEM252	ADGRE5	psi-mi:“MI:0914”(association)	0.350
	EBAG9	psi-mi:“MI:0914”(association)	0.350
TMEM252	LBX1	psi-mi:“MI:0915”(physical association)	0.000
TMEM147	TMEM252	psi-mi:“MI:0915”(physical association)	0.000
TMEM252	SLC10A6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): PRSS2 (Affinity Capture-MS), TMEM252 (Two-hybrid), TMEM252 (Two-hybrid), TMEM252 (Two-hybrid), STXBP4 (Affinity Capture-MS), CD97 (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), TMEM252 (Protein-peptide), TMEM252 (Protein-peptide), TMEM252 (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A087WTH1, A0A125YWU9, A0PK84, A6PVL3, C9JQL5, F1QHM7, F1QX91, O15503, O41933, O70418, O88728, P0DI73, P13164, P26376, Q01628, Q01629, Q08755, Q0II74, Q21642, Q32L65, Q3UNB8, Q3YBM2, Q5FVR1, Q5FWL7, Q5I0I2, Q5R8D6, Q5RF75, Q5Y5T3, Q6DHI1, Q76IC6, Q7M734, Q7TQJ1, Q8BGI3, Q8CES1, Q8CFA6, Q8IYP9, Q8N6L7, Q8WVZ1, Q91WU6, Q921C1

Diamond homologs: Q5RF75, Q6AXS2, Q8C353, Q8N6L7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

108 predictions. Top by Δscore:

Variant	Effect	Δscore
9:68537489:CTGGC:C	acceptor_gain	0.9900
9:68540532:CGTA:C	donor_loss	0.9900
9:68540535:A:AT	donor_loss	0.9900
9:68540536:C:A	donor_loss	0.9900
9:68537490:TGGCC:T	acceptor_loss	0.9800
9:68537494:C:CC	acceptor_gain	0.9800
9:68537494:CTAGG:C	acceptor_loss	0.9800
9:68540536:CCTGT:C	donor_gain	0.9700
9:68538664:CA:C	donor_gain	0.9500
9:68538665:AA:A	donor_gain	0.9500
9:68537490:TGGC:T	acceptor_gain	0.9400
9:68540535:A:AC	donor_gain	0.9300
9:68540536:C:CC	donor_gain	0.9300
9:68540615:G:C	donor_gain	0.9200
9:68540531:ACGT:A	donor_loss	0.9000
9:68537492:GC:G	acceptor_gain	0.8800
9:68537493:CC:C	acceptor_gain	0.8800
9:68537491:GGC:G	acceptor_gain	0.8500
9:68537507:CAGCA:C	acceptor_loss	0.7800
9:68540613:CAG:C	donor_gain	0.7800
9:68540702:C:A	donor_gain	0.7600
9:68537491:GGCC:G	acceptor_gain	0.7400
9:68538663:TCA:T	donor_gain	0.7400
9:68537492:GCCT:G	acceptor_gain	0.7300
9:68537493:CCTAG:C	acceptor_gain	0.7100
9:68540530:CACGT:C	donor_loss	0.7000
9:68540603:C:CA	donor_gain	0.7000
9:68537510:CA:C	acceptor_loss	0.6900
9:68538619:AGTCC:A	donor_gain	0.6800
9:68538661:TCTCA:T	donor_gain	0.6700

AlphaMissense

1099 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:68540766:C:G	G17R	0.969
9:68540667:C:G	G50R	0.954
9:68540667:C:T	G50R	0.954
9:68540751:A:G	C22R	0.954
9:68540745:C:G	G24R	0.943
9:68540745:C:T	G24R	0.943
9:68540666:C:T	G50E	0.936
9:68540761:G:C	F18L	0.931
9:68540761:G:T	F18L	0.931
9:68540763:A:G	F18L	0.931
9:68537493:C:A	R93S	0.919
9:68537493:C:G	R93S	0.919
9:68540744:C:T	G24E	0.904
9:68540745:C:A	G24W	0.900
9:68540667:C:A	G50W	0.891
9:68540647:A:C	S56R	0.889
9:68540647:A:T	S56R	0.889
9:68540649:T:G	S56R	0.889
9:68540645:C:T	G57E	0.888
9:68540765:C:T	G17D	0.888
9:68540537:C:G	R93T	0.883
9:68540672:G:C	P48R	0.881
9:68540662:A:C	F51L	0.875
9:68540662:A:T	F51L	0.875
9:68540664:A:G	F51L	0.875
9:68540646:C:G	G57R	0.874
9:68540646:C:T	G57R	0.874
9:68540654:A:C	L54R	0.871
9:68537484:A:C	F96L	0.866
9:68537484:A:T	F96L	0.866

dbSNP variants (sampled 300 via entrez): RS1000058032 (9:68541564 T>C), RS1000112910 (9:68542714 A>G), RS1001020448 (9:68537856 A>C,G), RS1001554934 (9:68537626 A>C), RS1001751266 (9:68539274 T>C), RS1002631816 (9:68536638 C>A,T), RS1003399393 (9:68538326 T>C), RS1003477343 (9:68542168 T>C), RS1003564713 (9:68540815 C>A), RS1003749609 (9:68542384 C>A), RS1004858446 (9:68537566 T>C), RS1005192195 (9:68538840 T>A), RS1005328089 (9:68538491 G>T), RS1005606460 (9:68539180 G>A), RS1007010088 (9:68540448 C>A,G,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

1 associations (top):

Study	Trait	p-value
GCST003875_5	Gut microbiota (bacterial taxa)	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0007883	taxonomic microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bazedoxifene	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	decreases expression	1
Folic Acid	decreases expression	1
Okadaic Acid	affects expression	1

Clinical trials (associated diseases)

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