TMEM51

Summary

TMEM51 (transmembrane protein 51, HGNC:25488) is a protein-coding gene on chromosome 1p36.21, encoding Transmembrane protein 51 (Q9NW97).

Predicted to be located in membrane.

Source: NCBI Gene 55092 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001136218

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25488
Approved symbol	TMEM51
Name	transmembrane protein 51
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10199
Ensembl gene	ENSG00000171729
Ensembl biotype	protein_coding
Entrez	55092

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000376008, ENST00000376014, ENST00000400796, ENST00000428417, ENST00000434578, ENST00000451326, ENST00000887778, ENST00000887779, ENST00000887780, ENST00000887781, ENST00000926432

RefSeq mRNA: 5 — MANE Select: NM_001136218 NM_001136216, NM_001136217, NM_001136218, NM_001319665, NM_018022

CCDS: CCDS154, CCDS81266

Canonical transcript exons

ENST00000376008 — 4 exons

Exon	Start	End
ENSE00001145041	15214895	15215431
ENSE00001321347	15153747	15153954
ENSE00001469117	15219326	15220478
ENSE00001469132	15210490	15210562

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 91.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4802 / max 122.8796, expressed in 1503 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
817	10.5005	1482
813	0.7558	398
812	0.5391	320
201365	0.3980	222
816	0.1490	49
815	0.0931	25
814	0.0447	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	91.58	gold quality
oocyte	CL:0000023	90.36	gold quality
body of stomach	UBERON:0001161	90.10	gold quality
cartilage tissue	UBERON:0002418	89.52	gold quality
pancreas	UBERON:0001264	89.22	gold quality
metanephros cortex	UBERON:0010533	89.12	gold quality
mucosa of transverse colon	UBERON:0004991	88.67	gold quality
stromal cell of endometrium	CL:0002255	88.53	gold quality
stomach	UBERON:0000945	87.68	gold quality
gall bladder	UBERON:0002110	87.68	gold quality
buccal mucosa cell	CL:0002336	87.07	silver quality
islet of Langerhans	UBERON:0000006	87.01	gold quality
right adrenal gland cortex	UBERON:0035827	86.99	gold quality
left adrenal gland	UBERON:0001234	86.93	gold quality
adult mammalian kidney	UBERON:0000082	86.85	gold quality
right ovary	UBERON:0002118	86.65	gold quality
secondary oocyte	CL:0000655	86.44	gold quality
mucosa of urinary bladder	UBERON:0001259	86.44	silver quality
pancreatic ductal cell	CL:0002079	86.39	silver quality
right adrenal gland	UBERON:0001233	86.33	gold quality
left adrenal gland cortex	UBERON:0035825	86.30	gold quality
duodenum	UBERON:0002114	86.05	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.89	gold quality
lower esophagus mucosa	UBERON:0035834	85.78	gold quality
left ovary	UBERON:0002119	85.64	gold quality
adrenal cortex	UBERON:0001235	85.30	gold quality
fundus of stomach	UBERON:0001160	85.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.05	gold quality
transverse colon	UBERON:0001157	84.82	gold quality
urinary bladder	UBERON:0001255	84.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting TMEM51, 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-3163	100.00	77.23	8605
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-4687-5P	99.14	66.26	488
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-384	98.71	67.34	1229
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-5007-5P	97.95	64.71	614
HSA-MIR-7112-3P	97.67	68.77	948
HSA-MIR-4474-3P	96.97	65.87	870

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem51b	ENSDARG00000061916
danio_rerio	tmem51a	ENSDARG00000068575
mus_musculus	Tmem51	ENSMUSG00000040616
rattus_norvegicus	Tmem51	ENSRNOG00000014197

Protein

Protein identifiers

Transmembrane protein 51 — Q9NW97 (reviewed: Q9NW97)

All UniProt accessions (3): Q9NW97, B1AP03, Q9BSA0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (5): NP_001129688, NP_001129689, NP_001129690, NP_001306594, NP_060492 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029265	TMEM51	Family

Pfam: PF15345

UniProt features (16 total): compositionally biased region 6, modified residue 3, transmembrane region 2, sequence variant 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NW97-F1	60.29	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 (3): 115, 182, 192

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, AACWWCAANK_UNKNOWN, CCANNAGRKGGC_UNKNOWN, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, DOUGLAS_BMI1_TARGETS_UP, RUTELLA_RESPONSE_TO_HGF_UP, CHEN_METABOLIC_SYNDROM_NETWORK, chr1p36, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_UP, BHAT_ESR1_TARGETS_NOT_VIA_AKT1_UP

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

670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM51	CCDC183	Q5T5S1	536
TMEM51	FRMPD1	Q5SYB0	503
TMEM51	CCDC9B	Q6ZUT6	479
TMEM51	CDC42EP3	Q9UKI2	471
TMEM51	CPNE5	Q9HCH3	468
TMEM51	MCTP2	Q6DN12	458
TMEM51	NBEAL2	Q6ZNJ1	449
TMEM51	C3orf80	F5H4A9	447
TMEM51	SLITRK5	O94991	445
TMEM51	SPATS2L	Q9NUQ6	445
TMEM51	NDUFAF6	Q330K2	444
TMEM51	RAB28	P51157	443
TMEM51	AZI2	Q9H6S1	442
TMEM51	TMEM86A	Q8N2M4	437
TMEM51	KCTD12	Q96CX2	435

IntAct

124 interactions, top by confidence:

A	B	Type	Score
ITCH	TMEM51	psi-mi:“MI:0407”(direct interaction)	0.690
NEDD4	TMEM51	psi-mi:“MI:0407”(direct interaction)	0.590
PTPN5	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
TMEM51	PTPN5	psi-mi:“MI:0915”(physical association)	0.560
	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
PLP2	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
CYP4F2	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
STRIT1	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
RTP2	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
CYB5R3	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
CCL4L1	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
NRAC	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
TSNARE1	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
TMEM51	TMEM242	psi-mi:“MI:0915”(physical association)	0.560
SFXN3	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
TMEM51	TMX2	psi-mi:“MI:0915”(physical association)	0.560
SEC61G	TMEM51	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (147): PTPN5 (Two-hybrid), TMEM51 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), HSPA12A (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), ITCH (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), WWP1 (Affinity Capture-MS), TTI1 (Affinity Capture-MS), PTER (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), ZC3HAV1L (Affinity Capture-MS)

ESM2 similar proteins: A2AR95, A4GWX9, A4IHY6, B9F4Q9, D2KUZ7, D3Z1Q2, O15165, O35181, P0C1G7, P0C6T3, P56975, Q0VA20, Q0VBF2, Q0VFM5, Q3B7T3, Q3UH99, Q3V0I2, Q4KL18, Q4KMG9, Q58DS4, Q5FWP4, Q5R8E0, Q5XG16, Q68FU0, Q6A098, Q6K0P5, Q6PAQ9, Q6UXU6, Q6ZSJ9, Q86YD5, Q8AVJ1, Q8BGE4, Q8BGW2, Q8BWJ4, Q8TB68, Q8WUU8, Q8WVE6, Q90VY2, Q92537, Q93YV5

Diamond homologs: Q99LG1, Q9NW97

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 55 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RAF/MAP kinase cascade	5	10.5×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	0
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1038 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15219321:T:A	acceptor_gain	1.0000
1:15219324:A:AG	acceptor_gain	1.0000
1:15219325:G:GT	acceptor_gain	1.0000
1:15219325:GC:G	acceptor_gain	1.0000
1:15219325:GCC:G	acceptor_gain	1.0000
1:15219325:GCCA:G	acceptor_gain	1.0000
1:15219313:T:TA	acceptor_gain	0.9900
1:15152931:A:T	donor_gain	0.9800
1:15181558:CAAG:C	acceptor_gain	0.9800
1:15181559:AAGA:A	acceptor_gain	0.9800
1:15181560:A:G	acceptor_gain	0.9700
1:15154377:G:GT	donor_gain	0.9600
1:15181559:A:AG	acceptor_gain	0.9600
1:15215424:G:GT	donor_gain	0.9600
1:15218233:G:GT	donor_gain	0.9600
1:15219311:T:TA	acceptor_gain	0.9600
1:15219326:CCAGG:C	acceptor_gain	0.9600
1:15153236:GAG:G	donor_gain	0.9500
1:15215057:T:TA	acceptor_gain	0.9500
1:15181558:CA:C	acceptor_gain	0.9400
1:15181559:AA:A	acceptor_gain	0.9400
1:15188834:AGCAG:A	acceptor_gain	0.9400
1:15188835:GCAGG:G	acceptor_gain	0.9400
1:15215427:GACAG:G	donor_gain	0.9400
1:15215428:ACAG:A	donor_loss	0.9400
1:15215429:CAGGT:C	donor_loss	0.9400
1:15215430:AG:A	donor_loss	0.9400
1:15215431:GGT:G	donor_loss	0.9400
1:15215432:GTGA:G	donor_loss	0.9400
1:15215433:T:C	donor_loss	0.9400

AlphaMissense

1649 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:15215160:G:A	G25R	1.000
1:15215160:G:C	G25R	1.000
1:15215134:C:A	A16D	0.999
1:15215139:G:C	G18R	0.999
1:15215140:G:A	G18D	0.999
1:15215145:G:A	G20R	0.999
1:15215145:G:C	G20R	0.999
1:15215146:G:A	G20E	0.999
1:15215149:T:G	M21R	0.999
1:15215158:T:A	L24H	0.999
1:15215161:G:A	G25E	0.999
1:15215304:G:A	G73R	0.999
1:15215304:G:C	G73R	0.999
1:15219598:T:C	I206T	0.999
1:15215149:T:A	M21K	0.998
1:15215160:G:T	G25W	0.998
1:15215170:T:A	M28K	0.998
1:15215170:T:G	M28R	0.998
1:15215178:T:A	W31R	0.998
1:15215178:T:C	W31R	0.998
1:15215298:G:A	G71R	0.998
1:15215298:G:C	G71R	0.998
1:15215305:G:A	G73E	0.998
1:15219596:G:C	R205S	0.998
1:15219596:G:T	R205S	0.998
1:15219598:T:G	I206S	0.998
1:15215137:T:A	I17N	0.997
1:15215155:T:A	V23D	0.997
1:15215173:C:A	A29D	0.997
1:15215299:G:A	G71E	0.997

dbSNP variants (sampled 300 via entrez): RS1000008473 (1:15167394 A>G), RS1000033727 (1:15174665 A>G), RS1000039642 (1:15207656 C>G), RS1000205154 (1:15184219 G>T), RS1000207571 (1:15205084 C>T), RS1000325932 (1:15196096 C>T), RS1000357335 (1:15188997 C>A,G), RS1000421341 (1:15194626 C>A), RS1000471229 (1:15213737 G>T), RS1000480853 (1:15153964 A>T), RS1000483317 (1:15196346 C>T), RS1000513338 (1:15215904 G>A,C), RS1000544911 (1:15179080 T>G), RS1000555034 (1:15217709 A>G), RS1000593455 (1:15190281 G>A)

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

3 associations (top):

Study	Trait	p-value
GCST009385_1	Cocaine use disorder	4.000000e-08
GCST009386_1	Cocaine use disorder x non-traditional parental care interaction	9.000000e-10
GCST010550_1	Acute ischemic stroke x type 2 diabetes interaction	8.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010445	cocaine use disorder
EFO:0010552	social environment measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression	3
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression, affects expression, affects methylation	2
FR900359	affects phosphorylation	1
trichostatin A	increases expression	1
sodium bichromate	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
belinostat	decreases expression	1
jinfukang	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Caffeine	affects phosphorylation	1
Doxorubicin	decreases expression	1
Phenobarbital	affects expression	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	affects expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	affects expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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