TMEM182

gene
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Also known as FLJ30294

Summary

TMEM182 (transmembrane protein 182, HGNC:26391) is a protein-coding gene on chromosome 2q12.1, encoding Transmembrane protein 182 (Q6ZP80). Negatively regulates myogenesis and skeletal muscle regeneration via its association with ITGB1.

Predicted to be involved in myotube cell development involved in skeletal muscle regeneration; negative regulation of myoblast differentiation; and negative regulation of myoblast fusion. Predicted to be located in plasma membrane.

Source: NCBI Gene 130827 — RefSeq curated summary.

At a glance

  • GWAS associations: 29
  • Clinical variants (ClinVar): 34 total
  • MANE Select transcript: NM_144632

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26391
Approved symbolTMEM182
Nametransmembrane protein 182
Location2q12.1
Locus typegene with protein product
StatusApproved
AliasesFLJ30294
Ensembl geneENSG00000170417
Ensembl biotypeprotein_coding
Entrez130827

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000409173, ENST00000409528, ENST00000412401, ENST00000453878, ENST00000454536, ENST00000469971, ENST00000484094, ENST00000486293, ENST00000488134, ENST00000639249, ENST00000640575

RefSeq mRNA: 5 — MANE Select: NM_144632 NM_001321343, NM_001321344, NM_001321345, NM_001321346, NM_144632

CCDS: CCDS2064, CCDS82489, CCDS82490, CCDS92825

Canonical transcript exons

ENST00000412401 — 5 exons

ExonStartEnd
ENSE00001699684102814748102817679
ENSE00001956914102762031102762349
ENSE00003461545102764329102764427
ENSE00003514093102762587102762686
ENSE00003596027102797863102798000

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 99.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0642 / max 233.6971, expressed in 1370 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
217713.02681341
217740.496664
217720.281843
217730.259050

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cardiac muscle of right atriumUBERON:000337999.45gold quality
left ventricle myocardiumUBERON:000656699.31gold quality
myocardiumUBERON:000234998.46gold quality
vastus lateralisUBERON:000137998.33gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451198.24gold quality
heart right ventricleUBERON:000208098.00gold quality
quadriceps femorisUBERON:000137797.82gold quality
biceps brachiiUBERON:000150797.67gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450297.05gold quality
skeletal muscle tissueUBERON:000113495.56gold quality
deltoidUBERON:000147695.38gold quality
cardiac atriumUBERON:000208194.83gold quality
hindlimb stylopod muscleUBERON:000425294.83gold quality
right atrium auricular regionUBERON:000663194.54gold quality
body of tongueUBERON:001187694.21gold quality
cardiac ventricleUBERON:000208293.66gold quality
heart left ventricleUBERON:000208493.60gold quality
muscle tissueUBERON:000238593.26gold quality
tibialis anteriorUBERON:000138591.84silver quality
heartUBERON:000094890.92gold quality
apex of heartUBERON:000209890.42gold quality
muscle of legUBERON:000138389.46gold quality
gastrocnemiusUBERON:000138889.15gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.25gold quality
vena cavaUBERON:000408787.58gold quality
tongueUBERON:000172385.19gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099181.83gold quality
islet of LangerhansUBERON:000000677.73gold quality
ventricular zoneUBERON:000305377.03gold quality
superior surface of tongueUBERON:000737176.39gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no3.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting TMEM182, 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-126-5P100.0072.713180
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-3646100.0073.565283
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-3163100.0077.238605
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-366299.9973.825684
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-1213699.9872.815713
HSA-MIR-477599.9875.006394
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-314899.9775.066478
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-60799.9773.625593
HSA-MIR-807599.9767.20962
HSA-MIR-590-3P99.9674.346478
HSA-MIR-211099.9666.681930
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-539-5P99.9370.302855
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-338-5P99.9272.342951
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-95-5P99.8972.173973
HSA-MIR-612499.8769.783551
HSA-MIR-469899.8471.414303
HSA-MIR-576-5P99.8470.462582

Literature-anchored findings (GeneRIF, showing 2)

  • Tumor necrosis factor alpha (TNF-alpha)-mediated expression of TMEM182 was regulated by miR-450a induction in oral squamous cell carcinoma. MiR-450a-reduced cellular adhesion was abolished by TMEM182 restoration. (PMID:30893332)
  • Identification of a TMEM182 rs141764639 polymorphism associated with central obesity by regulating tumor necrosis factor-alpha in a Korean population. (PMID:32938560)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriotmem182aENSDARG00000040374
danio_reriotmem182bENSDARG00000087285
mus_musculusTmem182ENSMUSG00000079588
rattus_norvegicusTmem182ENSRNOG00000028945

Protein

Protein identifiers

Transmembrane protein 182Q6ZP80 (reviewed: Q6ZP80)

All UniProt accessions (7): Q6ZP80, A0A1W2PQA2, A0A1W2PS41, A0A494C0U9, A0A494C149, B8ZZ71, C9IYX5

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates myogenesis and skeletal muscle regeneration via its association with ITGB1. Modulates ITGB1 activation by decreasing ITGB1-LAMB1 interaction and inhibiting ITGB1-mediated intracellular signaling during myogenesis.

Subunit / interactions. Interacts with ITGB1.

Subcellular location. Cell membrane.

Similarity. Belongs to the TMEM182 family.

Isoforms (3)

UniProt IDNamesCanonical?
Q6ZP80-11yes
Q6ZP80-22
Q6ZP80-33

RefSeq proteins (5): NP_001308272, NP_001308273, NP_001308274, NP_001308275, NP_653233* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004031PMP22/EMP/MP20/ClaudinFamily
IPR026763TMEM182Family

Pfam: PF13903

UniProt features (15 total): topological domain 4, transmembrane region 3, glycosylation site 2, splice variant 2, signal peptide 1, chain 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6ZP80-F187.240.52

Functional residue map

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

Glycosylation sites (2): 47, 102

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, NKX25_02, chr2q12, GOBP_GROWTH, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGENERATION, AP4_Q6, TGACCTY_ERR1_Q2, MEF2_02, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_MYOBLAST_DIFFERENTIATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT

GO Biological Process (5): muscle organ development (GO:0007517), myotube cell development involved in skeletal muscle regeneration (GO:0014906), myotube differentiation involved in skeletal muscle regeneration (GO:0014908), negative regulation of myoblast differentiation (GO:0045662), negative regulation of myoblast fusion (GO:1901740)

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

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
skeletal muscle tissue regeneration2
animal organ development1
muscle structure development1
myotube cell development1
myotube differentiation involved in skeletal muscle regeneration1
myotube differentiation1
myoblast differentiation1
negative regulation of cell differentiation1
regulation of myoblast differentiation1
myoblast fusion1
negative regulation of syncytium formation by plasma membrane fusion1
regulation of myoblast fusion1
binding1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

578 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMEM182SLC67A2Q8NBP5666
TMEM182TM6SF1Q9BZW5499
TMEM182MCTP2Q6DN12472
TMEM182PLCH2O75038448
TMEM182SHISAL2BA6NKW6441
TMEM182VWC2LB2RUY7438
TMEM182TAFA1Q7Z5A9420
TMEM182TTC36A6NLP5397
TMEM182MYMKA6NI61396
TMEM182CDH15P55291390
TMEM182CADM2Q8N3J6381
TMEM182LAMP5Q9UJQ1377
TMEM182ADGRF2PQ8IZF7375
TMEM182ZNF738Q8NE65371
TMEM182TSPAN33Q86UF1362

IntAct

51 interactions, top by confidence:

ABTypeScore
SYNE4TMEM182psi-mi:“MI:0915”(physical association)0.560
TMEM182SYNE4psi-mi:“MI:0915”(physical association)0.560
TMEM182LGALS3psi-mi:“MI:0915”(physical association)0.560
TMEM182CLDN5psi-mi:“MI:0915”(physical association)0.560
KLRC1TMEM182psi-mi:“MI:0915”(physical association)0.560
TMEM182MS4A3psi-mi:“MI:0915”(physical association)0.560
TMEM182SMIM3psi-mi:“MI:0915”(physical association)0.560
TMEM182psi-mi:“MI:0915”(physical association)0.560
GPR42TMEM182psi-mi:“MI:0915”(physical association)0.560
TMEM182TMEM140psi-mi:“MI:0915”(physical association)0.560
PLP1TMEM182psi-mi:“MI:0915”(physical association)0.560
TMEM182SUSD3psi-mi:“MI:0915”(physical association)0.560
GJA8TMEM182psi-mi:“MI:0915”(physical association)0.560
TSPAN12TMEM182psi-mi:“MI:0915”(physical association)0.560
TMEM182FNDC9psi-mi:“MI:0915”(physical association)0.560
TMEM218TMEM182psi-mi:“MI:0915”(physical association)0.560
CLDN5TMEM182psi-mi:“MI:0915”(physical association)0.560
MALLTMEM182psi-mi:“MI:0915”(physical association)0.560
TMEM182LGALS3psi-mi:“MI:0914”(association)0.560
TMEM182SRPRApsi-mi:“MI:0914”(association)0.350
TMEM182KLRC1psi-mi:“MI:0915”(physical association)0.000
TMEM182MS4A3psi-mi:“MI:0915”(physical association)0.000
TMEM182SMIM3psi-mi:“MI:0915”(physical association)0.000
TMEM182psi-mi:“MI:0915”(physical association)0.000
TMEM140TMEM182psi-mi:“MI:0915”(physical association)0.000
TMEM182PLP1psi-mi:“MI:0915”(physical association)0.000
TMEM182SUSD3psi-mi:“MI:0915”(physical association)0.000

BioGRID (23): SYNE4 (Two-hybrid), LGALS3 (Affinity Capture-MS), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), TMEM182 (Two-hybrid), FNDC9 (Two-hybrid), TMEM31 (Two-hybrid), CLDN5 (Two-hybrid)

ESM2 similar proteins: A0A1D5NY17, A4IF75, B2RVY9, B3SHH9, F6V1J6, O42281, O70578, P19518, P97707, Q06432, Q08CE6, Q08DE1, Q0D289, Q0V9E0, Q14714, Q2MJQ7, Q4R4Z3, Q4V922, Q5CZV0, Q5PRC1, Q5RDV7, Q5XGU1, Q62147, Q66IV3, Q68FV0, Q6AZD1, Q6P0C6, Q6R5J2, Q6ZP80, Q6ZUX7, Q7ZZL8, Q86WI0, Q8BGA2, Q8NBL3, Q8VHW3, Q8VHW4, Q8VHW7, Q8VHW8, Q91Y55, Q925N4

Diamond homologs: A0A1D5NY17, A4IF75, B2RVY9, Q0V9E0, Q5CZV0, Q6ZP80

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 pathogenic0
Uncertain significance25
Likely benign0
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

777 predictions. Top by Δscore:

VariantEffectΔscore
2:102762673:G:GTdonor_gain1.0000
2:102762682:GTACA:Gdonor_gain1.0000
2:102762683:TACA:Tdonor_gain1.0000
2:102762684:ACA:Adonor_gain1.0000
2:102762686:AGT:Adonor_loss1.0000
2:102762687:G:GGdonor_gain1.0000
2:102762687:GTA:Gdonor_loss1.0000
2:102762688:T:Gdonor_loss1.0000
2:102764317:T:Aacceptor_gain1.0000
2:102764325:CTA:Cacceptor_loss1.0000
2:102764327:A:AGacceptor_gain1.0000
2:102764327:A:Tacceptor_loss1.0000
2:102764328:G:GAacceptor_gain1.0000
2:102764328:GC:Gacceptor_gain1.0000
2:102764328:GCC:Gacceptor_gain1.0000
2:102764328:GCCA:Gacceptor_gain1.0000
2:102764328:GCCAA:Gacceptor_gain1.0000
2:102764424:G:GGdonor_gain1.0000
2:102764424:GTTA:Gdonor_loss1.0000
2:102764425:TTA:Tdonor_gain1.0000
2:102764425:TTAG:Tdonor_loss1.0000
2:102764426:TA:Tdonor_gain1.0000
2:102764426:TAG:Tdonor_loss1.0000
2:102764427:AGT:Adonor_loss1.0000
2:102764428:G:GGdonor_gain1.0000
2:102764428:GTA:Gdonor_loss1.0000
2:102764429:TAA:Tdonor_loss1.0000
2:102764430:AAGT:Adonor_loss1.0000
2:102797851:T:Aacceptor_gain1.0000
2:102797852:G:Aacceptor_gain1.0000

AlphaMissense

1500 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:102797922:A:CS131R0.997
2:102797924:C:AS131R0.997
2:102797924:C:GS131R0.997
2:102762629:T:AC59S0.995
2:102762630:G:CC59S0.995
2:102762614:G:AG54R0.994
2:102762614:G:CG54R0.994
2:102764352:T:AC86S0.994
2:102764353:G:CC86S0.994
2:102762614:G:TG54W0.993
2:102762629:T:CC59R0.993
2:102762305:T:AW30R0.992
2:102762305:T:CW30R0.992
2:102762615:G:AG54E0.991
2:102762631:T:GC59W0.991
2:102764352:T:CC86R0.991
2:102764354:C:GC86W0.991
2:102762266:G:AG17R0.990
2:102762266:G:CG17R0.990
2:102762309:T:CL31P0.990
2:102762630:G:AC59Y0.990
2:102764353:G:AC86Y0.990
2:102797869:G:CR113P0.990
2:102797877:T:AW116R0.990
2:102797877:T:CW116R0.990
2:102762630:G:TC59F0.988
2:102762608:C:GH52D0.987
2:102762307:G:CW30C0.986
2:102762307:G:TW30C0.986
2:102762246:G:AG10E0.985

dbSNP variants (sampled 300 via entrez): RS1000088219 (2:102840635 G>C,T), RS1000118395 (2:102844124 G>A), RS1000180796 (2:102765578 A>G), RS1000194982 (2:102760963 T>C,G), RS1000236733 (2:102814261 C>T), RS1000240497 (2:102772571 G>A), RS1000243776 (2:102807323 T>C), RS1000256177 (2:102767294 A>T), RS1000291668 (2:102795447 A>G), RS1000322408 (2:102795213 T>G), RS1000336312 (2:102755027 T>G), RS1000341571 (2:102789311 A>G), RS1000349515 (2:102830839 A>C), RS1000393170 (2:102820382 A>G), RS1000443294 (2:102844045 C>A,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

29 associations (top):

StudyTraitp-value
GCST002471_2Blood pressure (anthropometric measures interaction)5.000000e-08
GCST002929_9Chromium levels5.000000e-06
GCST003542_105Night sleep phenotypes9.000000e-06
GCST003992_24Photic sneeze reflex3.000000e-08
GCST004705_2Blood pressure4.000000e-08
GCST007045_17PR interval3.000000e-15
GCST007323_88Risk-taking tendency (4-domain principal component model)8.000000e-10
GCST007325_123General risk tolerance (MTAG)3.000000e-11
GCST007326_79Number of sexual partners4.000000e-08
GCST007327_170Smoking status (ever vs never smokers)2.000000e-10
GCST007327_207Smoking status (ever vs never smokers)1.000000e-21
GCST007335_5Age at first sexual intercourse3.000000e-08
GCST007603_29Smoking initiation9.000000e-14
GCST008810_58Smoking initiation (ever regular vs never regular)6.000000e-16
GCST010321_106PR interval4.000000e-34
GCST010796_4531Electrocardiogram morphology (amplitude at temporal datapoints)5.000000e-10
GCST010796_4532Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-10
GCST010796_4533Electrocardiogram morphology (amplitude at temporal datapoints)5.000000e-11
GCST010796_4534Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-11
GCST010796_4535Electrocardiogram morphology (amplitude at temporal datapoints)5.000000e-11
GCST010796_4536Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-10
GCST010796_4537Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-10
GCST010796_4538Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-11
GCST010988_185Adult body size1.000000e-09
GCST011534_4Sun-seeking behavior2.000000e-08
GCST011703_51Smoking initiation1.000000e-15
GCST011704_5Smoking status (current vs never)5.000000e-08
GCST012381_4Eosinophilic esophagitis4.000000e-10
GCST90027899_2Eosinophilic esophagitis4.000000e-10

EFO canonical traits (12, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0006335systolic blood pressure
EFO:0007887autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0006336diastolic blood pressure
EFO:0004462PR interval
EFO:0008579risk-taking behaviour
EFO:0004318smoking behavior
EFO:0009749age at first sexual intercourse measurement
EFO:0005670smoking initiation
EFO:0004327electrocardiography
EFO:0010729sun exposure measurement
EFO:0006527smoking status measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
Cyclosporineincreases expression3
entinostataffects cotreatment, decreases expression2
dicrotophosdecreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects cotreatment, increases methylation1
sodium arseniteincreases expression1
perfluorooctane sulfonic acidincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
dorsomorphindecreases expression, affects cotreatment1
incobotulinumtoxinAdecreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Air Pollutantsincreases abundance, increases expression1
Doxorubicindecreases expression1
Estradiolincreases expression1
Methyl Methanesulfonateincreases expression1
Valproic Acidaffects expression1
Asbestos, Crocidolitedecreases methylation1
Cadmium Chloridedecreases expression1
Particulate Matterincreases expression, increases abundance1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): eosinophilic esophagitis