TMEM92

gene
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Also known as FLJ33318

Summary

TMEM92 (transmembrane protein 92, HGNC:26579) is a protein-coding gene on chromosome 17q21.33, encoding Transmembrane protein 92 (Q6UXU6).

Located in nucleoplasm.

Source: NCBI Gene 162461 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): nervous system disorder (Limited, GenCC)
  • GWAS associations: 4
  • Clinical variants (ClinVar): 34 total — 1 likely-pathogenic
  • MANE Select transcript: NM_153229

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26579
Approved symbolTMEM92
Nametransmembrane protein 92
Location17q21.33
Locus typegene with protein product
StatusApproved
AliasesFLJ33318
Ensembl geneENSG00000167105
Ensembl biotypeprotein_coding
OMIM619604
Entrez162461

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000300433, ENST00000507382, ENST00000511882, ENST00000863234, ENST00000863235, ENST00000918452, ENST00000918453

RefSeq mRNA: 2 — MANE Select: NM_153229 NM_001168215, NM_153229

CCDS: CCDS11562

Canonical transcript exons

ENST00000507382 — 5 exons

ExonStartEnd
ENSE000011096725027880150278996
ENSE000012233765027919550281485
ENSE000020818825027446650274570
ENSE000036253005027855650278630
ENSE000036361255027771550277740

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 95.42.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1142 / max 264.5018, expressed in 515 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1616494.0260512
1616480.047711
1616500.029011
1616510.01155

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207995.42silver quality
ileal mucosaUBERON:000033191.29gold quality
duodenumUBERON:000211485.65gold quality
jejunal mucosaUBERON:000039983.30gold quality
tibialis anteriorUBERON:000138582.39silver quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.93gold quality
upper arm skinUBERON:000426378.71gold quality
kidney epitheliumUBERON:000481978.71gold quality
deltoidUBERON:000147678.56gold quality
cardia of stomachUBERON:000116278.25gold quality
body of stomachUBERON:000116178.02gold quality
cardiac muscle of right atriumUBERON:000337977.67gold quality
jejunumUBERON:000211577.07gold quality
small intestineUBERON:000210876.99gold quality
left ventricle myocardiumUBERON:000656676.97gold quality
small intestine Peyer’s patchUBERON:000345476.25gold quality
spermCL:000001975.92gold quality
stomachUBERON:000094575.83gold quality
nasal cavity epitheliumUBERON:000538475.81gold quality
vena cavaUBERON:000408775.31gold quality
oocyteCL:000002375.28gold quality
gall bladderUBERON:000211075.23gold quality
quadriceps femorisUBERON:000137774.56gold quality
vastus lateralisUBERON:000137973.32gold quality
mucosa of sigmoid colonUBERON:000499373.12silver quality
skeletal muscle tissue of rectus abdominisUBERON:000451172.34gold quality
myocardiumUBERON:000234972.19gold quality
substantia nigra pars compactaUBERON:000196571.54gold quality
colonic mucosaUBERON:000031771.07gold quality
pylorusUBERON:000116670.85gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes10.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting TMEM92, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4283100.0066.422097
HSA-MIR-548N99.9871.944170
HSA-MIR-96-5P99.9572.802140
HSA-MIR-548AB99.9571.313488
HSA-MIR-55999.9572.283609
HSA-MIR-185-3P99.9567.011743
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502
HSA-MIR-548H-5P99.9471.243488
HSA-MIR-548I99.9471.253481
HSA-MIR-548J-5P99.9471.143489
HSA-MIR-548O-5P99.9471.243488
HSA-MIR-548W99.9471.243488
HSA-MIR-548Y99.9471.283514
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-1213399.9271.822006
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-345-3P99.8970.231421

Literature-anchored findings (GeneRIF, showing 1)

  • Transmembrane protein 92 performs a tumor-promoting function in breast carcinoma by contributing to the cell growth, invasion, migration and epithelial-mesenchymal transition. (PMID:32835947)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
mus_musculusTmem92ENSMUSG00000075610
rattus_norvegicusLOC100364194ENSRNOG00000062464
rattus_norvegicusLOC103693451ENSRNOG00000070607
rattus_norvegicusENSRNOG00000070925
rattus_norvegicusENSRNOG00000074786

Protein

Protein identifiers

Transmembrane protein 92Q6UXU6 (reviewed: Q6UXU6)

All UniProt accessions (1): Q6UXU6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001161687, NP_694961* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR021684WBP1-likeFamily

Pfam: PF11669

UniProt features (9 total): sequence variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6UXU6-F167.180.07

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, NUYTTEN_NIPP1_TARGETS_DN, MARTENS_TRETINOIN_RESPONSE_UP, FORTSCHEGGER_PHF8_TARGETS_DN, NOTCH_DN.V1_DN, GSE10094_LCMV_VS_LISTERIA_IND_EFF_CD4_TCELL_DN, MIR3685, MIR4283, MIR5006_5P, MIR4755_3P, MIR6767_3P, GSE13485_DAY1_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE16522_ANTI_CD3CD28_STIM_VS_UNSTIM_NAIVE_CD8_TCELL_DN, DESCARTES_FETAL_CEREBELLUM_VASCULAR_ENDOTHELIAL_CELLS, DESCARTES_FETAL_CEREBRUM_VASCULAR_ENDOTHELIAL_CELLS

GO Biological Process (0):

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

GO Cellular Component (2): nucleoplasm (GO:0005654), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
binding1
nuclear lumen1

Protein interactions and networks

STRING

390 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMEM92ZSCAN4Q8NAM6586
TMEM92CLVS1Q8IUQ0522
TMEM92N4BP2L1Q5TBK1515
TMEM92ZNF618Q5T7W0491
TMEM92KRTAP9-7A8MTY7478
TMEM92PRAMEF6Q5VXH4471
TMEM92TRIM28Q13263443
TMEM92TMEM54Q969K7433
TMEM92PRAMEF25A6NGN4413
TMEM92USP17L1Q7RTZ2380
TMEM92OR1E2P47887379
TMEM92KRTAP9-8Q9BYQ0379
TMEM92OR1D5P58170368
TMEM92ZNF589Q86UQ0358
TMEM92KRTAP9-1A8MXZ3350
TMEM92OR3A2P47893350

IntAct

14 interactions, top by confidence:

ABTypeScore
RTP2TMEM92psi-mi:“MI:0915”(physical association)0.560
TMEM92DERL3psi-mi:“MI:0915”(physical association)0.560
YAP1TMEM92psi-mi:“MI:0407”(direct interaction)0.440
PARD6BPARD3psi-mi:“MI:0914”(association)0.350
Sgo2aGPA33psi-mi:“MI:0914”(association)0.350
NelfaNELFEpsi-mi:“MI:0914”(association)0.350
MRPL9MRPL43psi-mi:“MI:0914”(association)0.350
TMEM92NEDD4psi-mi:“MI:0914”(association)0.350
RTP2TMEM92psi-mi:“MI:0915”(physical association)0.000
DERL3TMEM92psi-mi:“MI:0915”(physical association)0.000

BioGRID (34): WWOX (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), ITCH (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), POMT2 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), NDFIP1 (Affinity Capture-MS), HBB (Affinity Capture-MS), CUEDC1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), TMEM92 (Affinity Capture-MS), TMEM92 (Affinity Capture-MS), TMEM92 (Affinity Capture-MS), TMEM92 (Affinity Capture-MS), WWOX (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GSZ0, A0A1B0GU29, A2A9G7, A2AR95, A2RV66, A4IHY6, A6NKW6, A6QQ93, A7Z070, B7ZWI3, D5LX53, F5HHZ3, O14668, O14669, O88472, P16815, P86045, P98153, P98154, Q02223, Q0VBF2, Q16655, Q4W815, Q56A20, Q5R8E0, Q5RCB6, Q5RCS3, Q5RF75, Q68FU0, Q69559, Q6AXS2, Q6F6K2, Q6UWV7, Q6UWW9, Q6UXU6, Q6XQ84, Q7SXB3, Q7TMJ8, Q86YD5, Q8BGN6

Diamond homologs: B7ZWI3, Q6UXU6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance28
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
183355NM_153229.3(TMEM92):c.95+3A>GLikely pathogenic

SpliceAI

735 predictions. Top by Δscore:

VariantEffectΔscore
17:50277741:G:GGdonor_gain1.0000
17:50279190:TGCA:Tacceptor_loss1.0000
17:50279191:GCA:Gacceptor_loss1.0000
17:50279192:CA:Cacceptor_loss1.0000
17:50279193:A:AGacceptor_gain1.0000
17:50279193:AGGT:Aacceptor_gain1.0000
17:50279194:G:GGacceptor_gain1.0000
17:50279194:GGT:Gacceptor_gain1.0000
17:50279194:GGTG:Gacceptor_gain1.0000
17:50278540:T:TAacceptor_gain0.9900
17:50278542:T:TAacceptor_gain0.9900
17:50278549:T:TAacceptor_gain0.9900
17:50278554:A:AGacceptor_gain0.9900
17:50278555:G:GAacceptor_gain0.9900
17:50278555:GT:Gacceptor_gain0.9900
17:50278555:GTGC:Gacceptor_gain0.9900
17:50279193:AG:Aacceptor_gain0.9900
17:50279194:GG:Gacceptor_gain0.9900
17:50277711:ACAG:Aacceptor_loss0.9800
17:50277712:CAGAT:Cacceptor_loss0.9800
17:50277713:A:AGacceptor_gain0.9800
17:50277713:A:Tacceptor_loss0.9800
17:50277714:G:GCacceptor_loss0.9800
17:50277714:G:GGacceptor_gain0.9800
17:50277739:CTGT:Cdonor_loss0.9800
17:50277740:TG:Tdonor_loss0.9800
17:50277741:GTAA:Gdonor_loss0.9800
17:50277742:T:TCdonor_loss0.9800
17:50277743:AA:Adonor_loss0.9800
17:50277753:GCCA:Gdonor_gain0.9800

AlphaMissense

1030 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:50278841:T:CC71R0.916
17:50279303:T:CF159L0.915
17:50279305:C:AF159L0.915
17:50279305:C:GF159L0.915
17:50278988:T:GY120D0.899
17:50278988:T:CY120H0.895
17:50279206:G:CK126N0.890
17:50279206:G:TK126N0.890
17:50278578:T:AC40S0.885
17:50278579:G:CC40S0.885
17:50278593:T:AC45S0.885
17:50278594:G:CC45S0.885
17:50278560:T:CC34R0.876
17:50278578:T:CC40R0.874
17:50278593:T:CC45R0.874
17:50278988:T:AY120N0.865
17:50279196:T:CV123A0.861
17:50278560:T:AC34S0.855
17:50278561:G:CC34S0.855
17:50278989:A:GY120C0.852
17:50278581:T:AC41S0.847
17:50278582:G:CC41S0.847
17:50279246:T:CY140H0.841
17:50279246:T:GY140D0.837
17:50278596:T:AC46S0.831
17:50278597:G:CC46S0.831
17:50278989:A:CY120S0.831
17:50279249:A:CS141R0.823
17:50279251:C:AS141R0.823
17:50279251:C:GS141R0.823

dbSNP variants (sampled 300 via entrez): RS1000003484 (17:50278210 C>G,T), RS1000244385 (17:50276281 C>T), RS1000546016 (17:50278426 C>T), RS1000632762 (17:50270531 G>C), RS1000830061 (17:50271013 G>A,T), RS1001177087 (17:50277904 C>A,T), RS1001227421 (17:50271770 A>G), RS1001609522 (17:50275392 G>A,T), RS1001618239 (17:50272190 T>A), RS1001713457 (17:50278176 C>T), RS1001779268 (17:50269979 C>T), RS1001848321 (17:50274466 C>G,T), RS1001855821 (17:50277593 A>G), RS1001914598 (17:50275588 C>A,T), RS1002343212 (17:50274231 G>A)

Disease associations

OMIM: gene MIM:619604 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
nervous system disorderLimitedAutosomal recessive

Mondo (2): hydrocephalus (MONDO:0001150), nervous system disorder (MONDO:0005071)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST006288_291Heel bone mineral density4.000000e-18
GCST006288_360Heel bone mineral density7.000000e-08
GCST006288_58Heel bone mineral density1.000000e-09
GCST006979_502Heel bone mineral density9.000000e-31

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0009270heel bone mineral density

MeSH disease descriptors (2)

DescriptorNameTree numbers
D006849HydrocephalusC10.228.140.602
D009422Nervous System DiseasesC10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression5
Benzo(a)pyreneincreases expression, increases mutagenesis2
Estradioldecreases expression, affects cotreatment, increases expression2
Smokedecreases expression, increases expression2
sotorasibaffects cotreatment, decreases expression1
propionaldehydeincreases expression1
2,5,2’,5’-tetrachlorobiphenylincreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
beta-lapachoneincreases expression1
sodium arseniteincreases expression1
benzo(e)pyrenedecreases methylation1
entinostatincreases expression1
abrinedecreases expression1
licochalcone Bdecreases expression1
jinfukangaffects cotreatment, increases expression1
trametinibaffects cotreatment, decreases expression1
NVP-BKM120affects cotreatment, decreases expression1
Bortezomibdecreases expression1
Cisplatinaffects cotreatment, increases expression1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Diethylhexyl Phthalateincreases expression1
Methapyrilenedecreases methylation1
Silicon Dioxidedecreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoinincreases expression1
Aflatoxin B1decreases methylation1
Cadmium Chlorideincreases expression1
Okadaic Aciddecreases expression1
Copper Sulfateincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00560157PHASE4COMPLETEDNutritional and Metabolic Evaluation of a Tube Feeding Immune Enhancing Diet in ICU Patients
NCT01319643PHASE4UNKNOWNNormal Oxygenation Versus Hyperoxia in the Intensive Care Unit (ICU)
NCT01662414PHASE4COMPLETEDEffect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease
NCT04289142PHASE4RECRUITINGCognitive Outcomes After Dexmedetomidine Sedation in Cardiac Surgery Patients
NCT04386525PHASE4UNKNOWNOmega 3 and Ischemic Stroke; Fish Oil as an Option
NCT04871464PHASE4UNKNOWNRole and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease
NCT04970667PHASE4COMPLETEDFlupentixol and Melitracen Tablets in the Treatment of Emotional Disorder
NCT05068349PHASE4UNKNOWNFor Patients With Ischemic Stroke, Clinically Study the Effectiveness and Safety of Butylphthalide.
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT06382467PHASE4UNKNOWNComparison of Remimazolam and Propofol Combination vs. Propofol in IOM
NCT06406127PHASE4RECRUITINGEffect of Alpha Lipoic Acid on Chemotherapy Induced Neurological Changes in Breast Cancer Patients
NCT01323764PHASE4COMPLETEDShuntCheck Versus Radionuclide in Evaluating Shunt Function in Symptomatic NPH Patients
NCT01685450PHASE4UNKNOWNNIMIP: Non Invasive Measurement of the Intracranial Pressure
NCT03513757PHASE4COMPLETEDDexmedetomidine and Propofol for Pediatric MRI Sedation
NCT07547826PHASE4NOT_YET_RECRUITINGEfficacy and Cost-Effectiveness of Topical Vancomycin Powder in Preventing Pediatric Ventriculoperitoneal Shunt Infections Across Different Etiologies
NCT00240695PHASE3COMPLETEDA Follow-up Study to Assess Safety and Tolerability of Galantamine Treatment in Individuals With Mild Cognitive Impairment
NCT01313299PHASE3COMPLETEDDysport® Adult Upper Limb Spasticity
NCT01313312PHASE3COMPLETEDDysport® Adult Upper Limb Spasticity Extension Study
NCT01425983PHASE3COMPLETEDDietary Intervention of Stress-Induced Neurovegetative Disorders With a Specific Amino Acid Composition (asn01)
NCT01589289PHASE3COMPLETEDRapid Diagnostic Tests and Clinical/Laboratory Predictors of Tropical Diseases in Neurological Disorders in DRC
NCT01826487PHASE3COMPLETEDPhase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT01862640PHASE3COMPLETEDA Phase 3, 12-week, Multicenter, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Efficacy, Safety, and Tolerability of 2 Fixed Doses of Brexpiprazole in the Treatment of Alzheimer’s Agitation
NCT01922258PHASE3COMPLETEDSafety and Tolerability Study of Flexible Dosing of Brexpiprazole in the Treatment of Subjects With Agitation Associated With Dementia of the Alzheimer’s Type
NCT02090959PHASE3TERMINATEDAn Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02284126PHASE3COMPLETEDTopical Vancomycin for Neurosurgery Wound Prophylaxis
NCT02436096PHASE3COMPLETEDA Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02770807PHASE3COMPLETEDIntra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients
NCT02829814PHASE3TERMINATEDRepeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631PHASE3COMPLETEDLong-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT03336450PHASE3COMPLETEDStudy of Midazolam Hydrochloride Oromucosal Solution (MHOS/SHP615) in Pediatric Patients With Status Epilepticus (Convulsive) in the Community Setting
NCT03336645PHASE3COMPLETEDOpen-label Study of Midazolam Hydrochloride Oromucosal Solution (MHOS/SHP615) in Children With Status Epilepticus (Convulsive) in a Healthcare Setting in Japan
NCT04639310PHASE3TERMINATEDXEN496 (Ezogabine) in Children With KCNQ2 Developmental and Epileptic Encephalopathy
NCT04912856PHASE3TERMINATEDAn Open-Label Extension of the Study XEN496 (Ezogabine) in Children With KCNQ2-DEE
NCT05126758PHASE3ACTIVE_NOT_RECRUITINGA Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05361707PHASE3UNKNOWNEvaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05508789PHASE3ACTIVE_NOT_RECRUITINGA Study of Donanemab (LY3002813) in Participants With Early Symptomatic Alzheimer’s Disease (TRAILBLAZER-ALZ 5)
NCT05738486PHASE3ACTIVE_NOT_RECRUITINGA Study of Different Donanemab (LY3002813) Dosing Regimens in Adults With Early Alzheimer’s Disease (TRAILBLAZER-ALZ 6)
NCT05834855PHASE3RECRUITINGNon-inferiority Study of Rituximab Compared to Ocrelizumab in Relapsing MS
NCT06672237PHASE3RECRUITINGA Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT06819592PHASE3RECRUITINGPRophylaxis Against Early VENTilator-associated Infections in Acute Brain Injury