TMEM120A
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Also known as TMPITNET29TACAN
Summary
TMEM120A (transmembrane protein 120A, HGNC:21697) is a protein-coding gene on chromosome 7q11.23, encoding Transmembrane protein 120A (Q9BXJ8). Multifunctional protein involved in mechanosensation, and plays an essential role in lipid metabolism and adipocyte differentiation.
Enables coenzyme A binding activity. Involved in antiviral innate immune response; fat cell differentiation; and protein complex oligomerization. Located in endoplasmic reticulum and plasma membrane.
Source: NCBI Gene 83862 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 84 total
- Druggable target: yes
- MANE Select transcript:
NM_031925
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21697 |
| Approved symbol | TMEM120A |
| Name | transmembrane protein 120A |
| Location | 7q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TMPIT, NET29, TACAN |
| Ensembl gene | ENSG00000189077 |
| Ensembl biotype | protein_coding |
| OMIM | 616550 |
| Entrez | 83862 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 15 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000417509, ENST00000431867, ENST00000439537, ENST00000440632, ENST00000460127, ENST00000465494, ENST00000465989, ENST00000480538, ENST00000480899, ENST00000484946, ENST00000485200, ENST00000486865, ENST00000490656, ENST00000493111, ENST00000493251, ENST00000910815, ENST00000910816, ENST00000910817, ENST00000910818, ENST00000910819, ENST00000910820, ENST00000944815, ENST00000944816, ENST00000944817
RefSeq mRNA: 3 — MANE Select: NM_031925
NM_001317803, NM_001363462, NM_031925
CCDS: CCDS64688, CCDS83192
Canonical transcript exons
ENST00000493111 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001422203 | 75994490 | 75994595 |
| ENSE00001685220 | 75986831 | 75987285 |
| ENSE00003537823 | 75987360 | 75987428 |
| ENSE00003539187 | 75988252 | 75988341 |
| ENSE00003580820 | 75988083 | 75988148 |
| ENSE00003591049 | 75987538 | 75987602 |
| ENSE00003625553 | 75989165 | 75989224 |
| ENSE00003637287 | 75987923 | 75987984 |
| ENSE00003665679 | 75992144 | 75992260 |
| ENSE00003671990 | 75988421 | 75988516 |
| ENSE00003677659 | 75992439 | 75992557 |
| ENSE00003718578 | 75987718 | 75987810 |
Expression profiles
Bgee: expression breadth ubiquitous, 238 present calls, max score 99.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3801 / max 429.3022, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84393 | 29.6119 | 1814 |
| 84392 | 0.7682 | 495 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 99.17 | gold quality |
| left testis | UBERON:0004533 | 99.00 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.79 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.78 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.59 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.59 | gold quality |
| right ovary | UBERON:0002118 | 98.54 | gold quality |
| left ovary | UBERON:0002119 | 98.39 | gold quality |
| apex of heart | UBERON:0002098 | 98.38 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.17 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.96 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.76 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.75 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.60 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.58 | gold quality |
| adrenal gland | UBERON:0002369 | 97.54 | gold quality |
| testis | UBERON:0000473 | 97.50 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.49 | gold quality |
| right coronary artery | UBERON:0001625 | 97.40 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.40 | gold quality |
| ascending aorta | UBERON:0001496 | 97.39 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.38 | gold quality |
| left coronary artery | UBERON:0001626 | 97.35 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.31 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.27 | gold quality |
| popliteal artery | UBERON:0002250 | 97.21 | gold quality |
| tibial artery | UBERON:0007610 | 97.20 | gold quality |
| endocervix | UBERON:0000458 | 97.19 | gold quality |
| aorta | UBERON:0000947 | 97.14 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 191.33 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting TMEM120A, 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-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
| HSA-MIR-6874-3P | 97.29 | 66.34 | 975 |
| HSA-MIR-148B-5P | 97.29 | 66.30 | 992 |
| HSA-MIR-1226-5P | 96.50 | 65.28 | 643 |
| HSA-MIR-3918 | 96.13 | 64.65 | 1300 |
| HSA-MIR-5681B | 94.82 | 69.30 | 514 |
Literature-anchored findings (GeneRIF, showing 3)
- TMEM120A is a coenzyme A-binding membrane protein with structural similarities to ELOVL fatty acid elongase. (PMID:34374645)
- Gain-of-function genetic screening identifies the antiviral function of TMEM120A via STING activation. (PMID:35013224)
- Cryo-EM structure of the human TACAN in a closed state. (PMID:35235791)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem120aa | ENSDARG00000030914 |
| danio_rerio | tmem120ab | ENSDARG00000042379 |
| mus_musculus | Tmem120a | ENSMUSG00000039886 |
| rattus_norvegicus | Tmem120a | ENSRNOG00000001441 |
| drosophila_melanogaster | CG32795 | FBGN0040384 |
| caenorhabditis_elegans | WBGENE00019716 |
Paralogs (1): TMEM120B (ENSG00000188735)
Protein
Protein identifiers
Transmembrane protein 120A — Q9BXJ8 (reviewed: Q9BXJ8)
Alternative names: Protein TACAN, Transmembrane protein induced by tumor necrosis factor alpha
All UniProt accessions (7): A0A024R4K9, A0A087WV11, A0A087WWH9, A0A087WZA9, A0A087WZF4, A0A087X266, Q9BXJ8
UniProt curated annotations — full annotation on UniProt →
Function. Multifunctional protein involved in mechanosensation, and plays an essential role in lipid metabolism and adipocyte differentiation. May function as a potential ion channel involved in sensing mechanical stimuli. Mediates the mechanosensitivity of the PKD2-TMEM120A channel complex through direct physical interaction. TMEM120A seems to affect mechanosensation by inhibiting PIEZO2 channels, possibly by altering cellular lipid content. TMEM120A is structurally similar to a lipid-modifying enzyme, ELOVL7, and contains a bound coenzyme A molecule, which suggests it might function as an enzyme in lipid metabolism. Additionally, implicated in innate immune response against Zika virus. Acts as a key activator of the antiviral signaling involving STING1.
Subunit / interactions. Homodimer. Forms heterooligomer with TMEM120B. Interacts with PKD2; TMEM120A inhibits PKD2 channel activity through the physical association of PKD2 with TMEM120A. Interacts (via C-terminal domain) with STING1; regulates the trafficking of STING1 from the ER to the ER-Golgi intermediate compartment to elicit antiviral effects.
Subcellular location. Cell membrane. Nucleus inner membrane. Endoplasmic reticulum.
Tissue specificity. Expressed in nociceptors.
Domain organisation. The transmembrane domain (TMD) has structural homology to the very long chain fatty acid elongase 7, ELOVL7, despite low sequence homology between them.
Miscellaneous. TACAN means movement in Farsi.
Similarity. Belongs to the TMEM120 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXJ8-1 | 1 | yes |
| Q9BXJ8-2 | 2 |
RefSeq proteins (3): NP_001304732, NP_001350391, NP_114131* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012926 | TMEM120A/B | Family |
Pfam: PF07851
UniProt features (37 total): helix 9, binding site 8, topological domain 7, transmembrane region 6, sequence variant 2, mutagenesis site 2, chain 1, splice variant 1, strand 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7N7P | ELECTRON MICROSCOPY | 3.24 |
| 7CXR | ELECTRON MICROSCOPY | 3.4 |
| 7F6V | ELECTRON MICROSCOPY | 3.66 |
| 7F3T | ELECTRON MICROSCOPY | 3.69 |
| 7F3U | ELECTRON MICROSCOPY | 4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXJ8-F1 | 89.40 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 130; 187; 188; 237; 240; 241; 283; 332
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 193 | decreases the binding affinity with coa. |
| 207 | increases membrane pressure-activated current. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 132 (showing top):
GCM_GSPT1, MODULE_255, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, MODULE_317, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GCM_BCL2L1, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, GOBP_SENSORY_PERCEPTION_OF_PAIN, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, HNF4_01, PPAR_DR1_Q2, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DEFENSE_RESPONSE_TO_VIRUS
GO Biological Process (8): monoatomic ion transmembrane transport (GO:0034220), fat cell differentiation (GO:0045444), detection of mechanical stimulus involved in sensory perception of pain (GO:0050966), protein homooligomerization (GO:0051260), protein heterooligomerization (GO:0051291), antiviral innate immune response (GO:0140374), immune system process (GO:0002376), innate immune response (GO:0045087)
GO Molecular Function (3): monoatomic ion channel activity (GO:0005216), coenzyme A binding (GO:0120225), protein binding (GO:0005515)
GO Cellular Component (5): nuclear inner membrane (GO:0005637), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein complex oligomerization | 2 |
| intracellular membrane-bounded organelle | 2 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| cell differentiation | 1 |
| sensory perception of pain | 1 |
| detection of mechanical stimulus involved in sensory perception | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| biological_process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| anion binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| sulfur compound binding | 1 |
| binding | 1 |
| organelle inner membrane | 1 |
| nuclear membrane | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
436 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM120A | PLPP7 | Q8NBV4 | 642 |
| TMEM120A | TMEM150C | B9EJG8 | 542 |
| TMEM120A | TM7SF2 | O76062 | 507 |
| TMEM120A | TMEM60 | Q9H2L4 | 506 |
| TMEM120A | TMEM38A | Q9H6F2 | 488 |
| TMEM120A | TMEM63A | O94886 | 461 |
| TMEM120A | TMEM63C | Q9P1W3 | 444 |
| TMEM120A | PIEZO1 | Q92508 | 435 |
| TMEM120A | ZBED11 | P0CF97 | 429 |
| TMEM120A | ZNF775 | Q96BV0 | 425 |
| TMEM120A | TMEM63B | Q5T3F8 | 405 |
| TMEM120A | ELOVL7 | A1L3X0 | 404 |
| TMEM120A | TMEM87A | Q8NBN3 | 402 |
| TMEM120A | TMC1 | Q8TDI8 | 402 |
| TMEM120A | TMC2 | Q8TDI7 | 399 |
IntAct
132 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP5F1B | ATP5PD | psi-mi:“MI:0914”(association) | 0.670 |
| ATP5PF | ATP5PD | psi-mi:“MI:0914”(association) | 0.670 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| TMEM120A | SPAG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | BIK | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | EBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHRS7 | TMEM120A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | ZDHHC15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | REEP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | TMEM88 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | DHRS7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120A | TMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BIK | TMEM120A | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | TMEM120A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC15 | TMEM120A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (83): SNAP29 (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Affinity Capture-MS), TMEM120A (Reconstituted Complex)
ESM2 similar proteins: A0PK00, A1L2R7, A2BIE7, A2VE61, A3KNK1, A6QPF8, A7XZ53, A8DZH4, B1AZA5, D3ZEH5, D3ZXD8, E1BD52, O35052, P58749, P98191, Q05B45, Q0VFK3, Q15035, Q17QL9, Q1LY80, Q3TA38, Q3UMR5, Q5EAX9, Q5EAY8, Q5FWV6, Q5HZE2, Q5R7B1, Q5U239, Q5ZMP3, Q63ZG0, Q68EY2, Q6DE21, Q6ZMG9, Q8BXA5, Q8C172, Q8C1E7, Q8CIF6, Q8N5B7, Q8NBJ9, Q8WVP7
Diamond homologs: A0PK00, A1L2R7, A3KNK1, A6QPF8, Q05B45, Q1LY80, Q3TA38, Q54IK2, Q5EAX9, Q5FWV6, Q5HZE2, Q63ZG0, Q6DE21, Q8C1E7, Q9BXJ8, Q9U1M2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| Formation of ATP by chemiosmotic coupling | 6 | 60.1× | 1e-07 |
| Cristae formation | 6 | 36.4× | 1e-06 |
| Mitochondrial biogenesis | 6 | 17.7× | 8e-05 |
| Aerobic respiration and respiratory electron transport | 7 | 10.9× | 2e-04 |
| Organelle biogenesis and maintenance | 6 | 7.0× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proton motive force-driven ATP synthesis | 6 | 54.7× | 5e-07 |
| proton motive force-driven mitochondrial ATP synthesis | 5 | 15.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1484 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:75987429:C:CC | acceptor_gain | 1.0000 |
| 7:75987716:AC:A | donor_gain | 1.0000 |
| 7:75987717:CC:C | donor_gain | 1.0000 |
| 7:75987717:CCCA:C | donor_gain | 1.0000 |
| 7:75987808:AGC:A | acceptor_gain | 1.0000 |
| 7:75987811:C:CA | acceptor_loss | 1.0000 |
| 7:75987811:C:CC | acceptor_gain | 1.0000 |
| 7:75987817:C:CT | acceptor_gain | 1.0000 |
| 7:75987817:C:T | acceptor_gain | 1.0000 |
| 7:75987818:G:T | acceptor_gain | 1.0000 |
| 7:75987821:C:CT | acceptor_gain | 1.0000 |
| 7:75987822:G:T | acceptor_gain | 1.0000 |
| 7:75987921:A:AC | donor_gain | 1.0000 |
| 7:75987922:C:CC | donor_gain | 1.0000 |
| 7:75987922:CT:C | donor_gain | 1.0000 |
| 7:75988082:CCA:C | donor_gain | 1.0000 |
| 7:75988247:CCCA:C | donor_loss | 1.0000 |
| 7:75988248:CCA:C | donor_loss | 1.0000 |
| 7:75988249:CACCG:C | donor_loss | 1.0000 |
| 7:75988250:ACCG:A | donor_loss | 1.0000 |
| 7:75988251:C:G | donor_loss | 1.0000 |
| 7:75988279:T:A | donor_gain | 1.0000 |
| 7:75988280:C:CA | donor_gain | 1.0000 |
| 7:75988337:TCACC:T | acceptor_gain | 1.0000 |
| 7:75988338:CACC:C | acceptor_gain | 1.0000 |
| 7:75988338:CACCC:C | acceptor_gain | 1.0000 |
| 7:75988339:ACC:A | acceptor_gain | 1.0000 |
| 7:75988340:CC:C | acceptor_gain | 1.0000 |
| 7:75988340:CCC:C | acceptor_gain | 1.0000 |
| 7:75988340:CCCT:C | acceptor_loss | 1.0000 |
AlphaMissense
2272 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:75987595:G:C | F264L | 1.000 |
| 7:75987595:G:T | F264L | 1.000 |
| 7:75987597:A:G | F264L | 1.000 |
| 7:75987759:A:G | L248P | 1.000 |
| 7:75988133:C:A | W193C | 1.000 |
| 7:75988133:C:G | W193C | 1.000 |
| 7:75988138:A:G | W192R | 1.000 |
| 7:75988138:A:T | W192R | 1.000 |
| 7:75988260:G:C | N185K | 1.000 |
| 7:75988260:G:T | N185K | 1.000 |
| 7:75988270:A:G | L182P | 1.000 |
| 7:75988270:A:T | L182H | 1.000 |
| 7:75988279:T:A | E179V | 1.000 |
| 7:75988291:A:G | L175P | 1.000 |
| 7:75988307:A:G | W170R | 1.000 |
| 7:75988307:A:T | W170R | 1.000 |
| 7:75988483:C:A | K137N | 1.000 |
| 7:75988483:C:G | K137N | 1.000 |
| 7:75988497:A:G | Y133H | 1.000 |
| 7:75988504:C:A | K130N | 1.000 |
| 7:75988504:C:G | K130N | 1.000 |
| 7:75988506:T:C | K130E | 1.000 |
| 7:75989201:C:T | G114E | 1.000 |
| 7:75987241:A:C | N321K | 0.999 |
| 7:75987241:A:T | N321K | 0.999 |
| 7:75987583:C:A | M268I | 0.999 |
| 7:75987583:C:G | M268I | 0.999 |
| 7:75987583:C:T | M268I | 0.999 |
| 7:75987586:C:A | W267C | 0.999 |
| 7:75987586:C:G | W267C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000315250 (7:75990779 A>T), RS1000530798 (7:75989763 C>A,G,T), RS1000600168 (7:75991069 C>T), RS1000994194 (7:75989547 T>C), RS1001035226 (7:75994457 C>A,T), RS1001382738 (7:75986961 C>A,G,T), RS1001721711 (7:75992016 C>T), RS1002055716 (7:75995674 C>T), RS1003649195 (7:75987997 G>A), RS1003945756 (7:75993148 A>G), RS1004163099 (7:75992671 G>A,C,T), RS1004365572 (7:75987538 G>A), RS1005140821 (7:75993796 G>A), RS1005181364 (7:75992126 G>A), RS1005193330 (7:75994040 C>G,T)
Disease associations
OMIM: gene MIM:616550 | disease phenotypes: MIM:613571
GenCC curated gene-disease
Mondo (1): congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (MONDO:0013310)
Orphanet (1): Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (Orphanet:95699)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002650_4 | Coffee consumption (cups per day) | 4.000000e-11 |
| GCST002651_1 | Coffee consumption | 1.000000e-09 |
| GCST011437_2 | Sarcoidosis | 1.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004330 | coffee consumption |
| EFO:0006782 | cups of coffee per day measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066365 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.19 | Kd | 650.8 | nM | CHEMBL5653589 |
| 5.88 | ED50 | 1329 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149606: Binding affinity to human TMEM120A incubated for 45 mins by Kinobead based pull down assay | kd | 0.6508 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases methylation, increases expression, affects expression, affects cotreatment | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzene | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652648 | Binding | Binding affinity to human TMEM120A incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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): congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, sarcoidosis