TMEM182
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:26391 |
| Approved symbol | TMEM182 |
| Name | transmembrane protein 182 |
| Location | 2q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ30294 |
| Ensembl gene | ENSG00000170417 |
| Ensembl biotype | protein_coding |
| Entrez | 130827 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001699684 | 102814748 | 102817679 |
| ENSE00001956914 | 102762031 | 102762349 |
| ENSE00003461545 | 102764329 | 102764427 |
| ENSE00003514093 | 102762587 | 102762686 |
| ENSE00003596027 | 102797863 | 102798000 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 21771 | 3.0268 | 1341 |
| 21774 | 0.4966 | 64 |
| 21772 | 0.2818 | 43 |
| 21773 | 0.2590 | 50 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 99.45 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.31 | gold quality |
| myocardium | UBERON:0002349 | 98.46 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.33 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.24 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.00 | gold quality |
| quadriceps femoris | UBERON:0001377 | 97.82 | gold quality |
| biceps brachii | UBERON:0001507 | 97.67 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.05 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.56 | gold quality |
| deltoid | UBERON:0001476 | 95.38 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.83 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.54 | gold quality |
| body of tongue | UBERON:0011876 | 94.21 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.66 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.60 | gold quality |
| muscle tissue | UBERON:0002385 | 93.26 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.84 | silver quality |
| heart | UBERON:0000948 | 90.92 | gold quality |
| apex of heart | UBERON:0002098 | 90.42 | gold quality |
| muscle of leg | UBERON:0001383 | 89.46 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.25 | gold quality |
| vena cava | UBERON:0004087 | 87.58 | gold quality |
| tongue | UBERON:0001723 | 85.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.83 | gold quality |
| islet of Langerhans | UBERON:0000006 | 77.73 | gold quality |
| ventricular zone | UBERON:0003053 | 77.03 | gold quality |
| superior surface of tongue | UBERON:0007371 | 76.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.78 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem182a | ENSDARG00000040374 |
| danio_rerio | tmem182b | ENSDARG00000087285 |
| mus_musculus | Tmem182 | ENSMUSG00000079588 |
| rattus_norvegicus | Tmem182 | ENSRNOG00000028945 |
Protein
Protein identifiers
Transmembrane protein 182 — Q6ZP80 (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 ID | Names | Canonical? |
|---|---|---|
| Q6ZP80-1 | 1 | yes |
| Q6ZP80-2 | 2 | |
| Q6ZP80-3 | 3 |
RefSeq proteins (5): NP_001308272, NP_001308273, NP_001308274, NP_001308275, NP_653233* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004031 | PMP22/EMP/MP20/Claudin | Family |
| IPR026763 | TMEM182 | Family |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZP80-F1 | 87.24 | 0.52 |
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:
| Category | Terms |
|---|---|
| skeletal muscle tissue regeneration | 2 |
| animal organ development | 1 |
| muscle structure development | 1 |
| myotube cell development | 1 |
| myotube differentiation involved in skeletal muscle regeneration | 1 |
| myotube differentiation | 1 |
| myoblast differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of myoblast differentiation | 1 |
| myoblast fusion | 1 |
| negative regulation of syncytium formation by plasma membrane fusion | 1 |
| regulation of myoblast fusion | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
578 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM182 | SLC67A2 | Q8NBP5 | 666 |
| TMEM182 | TM6SF1 | Q9BZW5 | 499 |
| TMEM182 | MCTP2 | Q6DN12 | 472 |
| TMEM182 | PLCH2 | O75038 | 448 |
| TMEM182 | SHISAL2B | A6NKW6 | 441 |
| TMEM182 | VWC2L | B2RUY7 | 438 |
| TMEM182 | TAFA1 | Q7Z5A9 | 420 |
| TMEM182 | TTC36 | A6NLP5 | 397 |
| TMEM182 | MYMK | A6NI61 | 396 |
| TMEM182 | CDH15 | P55291 | 390 |
| TMEM182 | CADM2 | Q8N3J6 | 381 |
| TMEM182 | LAMP5 | Q9UJQ1 | 377 |
| TMEM182 | ADGRF2P | Q8IZF7 | 375 |
| TMEM182 | ZNF738 | Q8NE65 | 371 |
| TMEM182 | TSPAN33 | Q86UF1 | 362 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYNE4 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | SYNE4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | LGALS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | CLDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLRC1 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | MS4A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | SMIM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GPR42 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | TMEM140 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP1 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | SUSD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN12 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | FNDC9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM218 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN5 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MALL | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM182 | LGALS3 | psi-mi:“MI:0914”(association) | 0.560 |
| TMEM182 | SRPRA | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM182 | KLRC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM182 | MS4A3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM182 | SMIM3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM182 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| TMEM140 | TMEM182 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM182 | PLP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM182 | SUSD3 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
777 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:102762673:G:GT | donor_gain | 1.0000 |
| 2:102762682:GTACA:G | donor_gain | 1.0000 |
| 2:102762683:TACA:T | donor_gain | 1.0000 |
| 2:102762684:ACA:A | donor_gain | 1.0000 |
| 2:102762686:AGT:A | donor_loss | 1.0000 |
| 2:102762687:G:GG | donor_gain | 1.0000 |
| 2:102762687:GTA:G | donor_loss | 1.0000 |
| 2:102762688:T:G | donor_loss | 1.0000 |
| 2:102764317:T:A | acceptor_gain | 1.0000 |
| 2:102764325:CTA:C | acceptor_loss | 1.0000 |
| 2:102764327:A:AG | acceptor_gain | 1.0000 |
| 2:102764327:A:T | acceptor_loss | 1.0000 |
| 2:102764328:G:GA | acceptor_gain | 1.0000 |
| 2:102764328:GC:G | acceptor_gain | 1.0000 |
| 2:102764328:GCC:G | acceptor_gain | 1.0000 |
| 2:102764328:GCCA:G | acceptor_gain | 1.0000 |
| 2:102764328:GCCAA:G | acceptor_gain | 1.0000 |
| 2:102764424:G:GG | donor_gain | 1.0000 |
| 2:102764424:GTTA:G | donor_loss | 1.0000 |
| 2:102764425:TTA:T | donor_gain | 1.0000 |
| 2:102764425:TTAG:T | donor_loss | 1.0000 |
| 2:102764426:TA:T | donor_gain | 1.0000 |
| 2:102764426:TAG:T | donor_loss | 1.0000 |
| 2:102764427:AGT:A | donor_loss | 1.0000 |
| 2:102764428:G:GG | donor_gain | 1.0000 |
| 2:102764428:GTA:G | donor_loss | 1.0000 |
| 2:102764429:TAA:T | donor_loss | 1.0000 |
| 2:102764430:AAGT:A | donor_loss | 1.0000 |
| 2:102797851:T:A | acceptor_gain | 1.0000 |
| 2:102797852:G:A | acceptor_gain | 1.0000 |
AlphaMissense
1500 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:102797922:A:C | S131R | 0.997 |
| 2:102797924:C:A | S131R | 0.997 |
| 2:102797924:C:G | S131R | 0.997 |
| 2:102762629:T:A | C59S | 0.995 |
| 2:102762630:G:C | C59S | 0.995 |
| 2:102762614:G:A | G54R | 0.994 |
| 2:102762614:G:C | G54R | 0.994 |
| 2:102764352:T:A | C86S | 0.994 |
| 2:102764353:G:C | C86S | 0.994 |
| 2:102762614:G:T | G54W | 0.993 |
| 2:102762629:T:C | C59R | 0.993 |
| 2:102762305:T:A | W30R | 0.992 |
| 2:102762305:T:C | W30R | 0.992 |
| 2:102762615:G:A | G54E | 0.991 |
| 2:102762631:T:G | C59W | 0.991 |
| 2:102764352:T:C | C86R | 0.991 |
| 2:102764354:C:G | C86W | 0.991 |
| 2:102762266:G:A | G17R | 0.990 |
| 2:102762266:G:C | G17R | 0.990 |
| 2:102762309:T:C | L31P | 0.990 |
| 2:102762630:G:A | C59Y | 0.990 |
| 2:102764353:G:A | C86Y | 0.990 |
| 2:102797869:G:C | R113P | 0.990 |
| 2:102797877:T:A | W116R | 0.990 |
| 2:102797877:T:C | W116R | 0.990 |
| 2:102762630:G:T | C59F | 0.988 |
| 2:102762608:C:G | H52D | 0.987 |
| 2:102762307:G:C | W30C | 0.986 |
| 2:102762307:G:T | W30C | 0.986 |
| 2:102762246:G:A | G10E | 0.985 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST002471_2 | Blood pressure (anthropometric measures interaction) | 5.000000e-08 |
| GCST002929_9 | Chromium levels | 5.000000e-06 |
| GCST003542_105 | Night sleep phenotypes | 9.000000e-06 |
| GCST003992_24 | Photic sneeze reflex | 3.000000e-08 |
| GCST004705_2 | Blood pressure | 4.000000e-08 |
| GCST007045_17 | PR interval | 3.000000e-15 |
| GCST007323_88 | Risk-taking tendency (4-domain principal component model) | 8.000000e-10 |
| GCST007325_123 | General risk tolerance (MTAG) | 3.000000e-11 |
| GCST007326_79 | Number of sexual partners | 4.000000e-08 |
| GCST007327_170 | Smoking status (ever vs never smokers) | 2.000000e-10 |
| GCST007327_207 | Smoking status (ever vs never smokers) | 1.000000e-21 |
| GCST007335_5 | Age at first sexual intercourse | 3.000000e-08 |
| GCST007603_29 | Smoking initiation | 9.000000e-14 |
| GCST008810_58 | Smoking initiation (ever regular vs never regular) | 6.000000e-16 |
| GCST010321_106 | PR interval | 4.000000e-34 |
| GCST010796_4531 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-10 |
| GCST010796_4532 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-10 |
| GCST010796_4533 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-11 |
| GCST010796_4534 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-11 |
| GCST010796_4535 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-11 |
| GCST010796_4536 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-10 |
| GCST010796_4537 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-10 |
| GCST010796_4538 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-11 |
| GCST010988_185 | Adult body size | 1.000000e-09 |
| GCST011534_4 | Sun-seeking behavior | 2.000000e-08 |
| GCST011703_51 | Smoking initiation | 1.000000e-15 |
| GCST011704_5 | Smoking status (current vs never) | 5.000000e-08 |
| GCST012381_4 | Eosinophilic esophagitis | 4.000000e-10 |
| GCST90027899_2 | Eosinophilic esophagitis | 4.000000e-10 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006335 | systolic blood pressure |
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004462 | PR interval |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0009749 | age at first sexual intercourse measurement |
| EFO:0005670 | smoking initiation |
| EFO:0004327 | electrocardiography |
| EFO:0010729 | sun exposure measurement |
| EFO:0006527 | smoking 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| entinostat | affects cotreatment, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): eosinophilic esophagitis