TMEM87A
gene geneOn this page
Also known as DKFZP564G2022ELKIN1
Summary
TMEM87A (transmembrane protein 87A, HGNC:24522) is a protein-coding gene on chromosome 15q15.1, encoding Transmembrane protein 87A (Q8NBN3). Potential monoatomic ion channel gated by mechanical force, implicated in normal touch sensitivity through the generation of mechanically activated currents.
Involved in cellular response to mechanical stimulus and detection of mechanical stimulus involved in sensory perception of touch. Acts upstream of or within retrograde transport, endosome to Golgi. Located in Golgi cisterna membrane; plasma membrane; and ruffle.
Source: NCBI Gene 25963 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_015497
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24522 |
| Approved symbol | TMEM87A |
| Name | transmembrane protein 87A |
| Location | 15q15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564G2022, ELKIN1 |
| Ensembl gene | ENSG00000103978 |
| Ensembl biotype | protein_coding |
| OMIM | 621342 |
| Entrez | 25963 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 21 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000307216, ENST00000389834, ENST00000448392, ENST00000561578, ENST00000562946, ENST00000563371, ENST00000564329, ENST00000566014, ENST00000566474, ENST00000568067, ENST00000568400, ENST00000568432, ENST00000569075, ENST00000704760, ENST00000704761, ENST00000876966, ENST00000876967, ENST00000876968, ENST00000876969, ENST00000876970, ENST00000922064, ENST00000922065, ENST00000953451, ENST00000953452, ENST00000953453, ENST00000953454
RefSeq mRNA: 3 — MANE Select: NM_015497
NM_001110503, NM_001286487, NM_015497
CCDS: CCDS32205, CCDS45243
Canonical transcript exons
ENST00000389834 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000678369 | 42219581 | 42219642 |
| ENSE00000678408 | 42220062 | 42220135 |
| ENSE00000884117 | 42226806 | 42226909 |
| ENSE00000931124 | 42273255 | 42273433 |
| ENSE00001107516 | 42218323 | 42218378 |
| ENSE00001107521 | 42217803 | 42217833 |
| ENSE00001107533 | 42210447 | 42211749 |
| ENSE00003462071 | 42267947 | 42268032 |
| ENSE00003470800 | 42228712 | 42228820 |
| ENSE00003479116 | 42227711 | 42227769 |
| ENSE00003562384 | 42272063 | 42272123 |
| ENSE00003573224 | 42264090 | 42264203 |
| ENSE00003594699 | 42233213 | 42233306 |
| ENSE00003629839 | 42231192 | 42231260 |
| ENSE00003632590 | 42239670 | 42239731 |
| ENSE00003642938 | 42260958 | 42261002 |
| ENSE00003645378 | 42237432 | 42237615 |
| ENSE00003663804 | 42244050 | 42244167 |
| ENSE00003665550 | 42261196 | 42261249 |
| ENSE00003680487 | 42236320 | 42236419 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 99.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.4256 / max 387.1359, expressed in 1816 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149550 | 40.3520 | 1815 |
| 149549 | 1.5289 | 782 |
| 149551 | 1.5020 | 1016 |
| 149548 | 0.0427 | 17 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.00 | gold quality |
| oocyte | CL:0000023 | 98.61 | gold quality |
| corpus callosum | UBERON:0002336 | 97.46 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.41 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.20 | gold quality |
| rectum | UBERON:0001052 | 96.90 | gold quality |
| periodontal ligament | UBERON:0008266 | 96.83 | gold quality |
| mammary duct | UBERON:0001765 | 96.72 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.69 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.65 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.51 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 96.42 | gold quality |
| urethra | UBERON:0000057 | 96.39 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.34 | gold quality |
| upper leg skin | UBERON:0004262 | 96.27 | gold quality |
| bronchus | UBERON:0002185 | 96.14 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 96.13 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.11 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.09 | gold quality |
| visceral pleura | UBERON:0002401 | 96.05 | gold quality |
| right lung | UBERON:0002167 | 96.03 | gold quality |
| nipple | UBERON:0002030 | 95.91 | gold quality |
| lung | UBERON:0002048 | 95.89 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.84 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.83 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.81 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.79 | gold quality |
| mammary gland | UBERON:0001911 | 95.78 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 95.77 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 23.37 |
| E-GEOD-130148 | yes | 8.89 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
113 targeting TMEM87A, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
Literature-anchored findings (GeneRIF, showing 3)
- TMEM87a/Elkin1, a component of a novel mechanoelectrical transduction pathway, modulates melanoma adhesion and migration. (PMID:32228863)
- Touch sensation requires the mechanically gated ion channel ELKIN1. (PMID:38422143)
- GolpHCat (TMEM87A), a unique voltage-dependent cation channel in Golgi apparatus, contributes to Golgi-pH maintenance and hippocampus-dependent memory. (PMID:38992057)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tmem87a | ENSMUSG00000033808 |
| rattus_norvegicus | Tmem87a | ENSRNOG00000008455 |
| drosophila_melanogaster | CG12121 | FBGN0030109 |
| drosophila_melanogaster | CG17660 | FBGN0031356 |
| caenorhabditis_elegans | WBGENE00015801 | |
| caenorhabditis_elegans | WBGENE00016867 |
Paralogs (3): GPR108 (ENSG00000125734), GPR107 (ENSG00000148358), TMEM87B (ENSG00000153214)
Protein
Protein identifiers
Transmembrane protein 87A — Q8NBN3 (reviewed: Q8NBN3)
Alternative names: Elkin1
All UniProt accessions (10): A0A994J4W5, A0A994J7M5, Q8NBN3, H3BM87, H3BMU0, H3BPJ4, H3BRG0, H3BSZ0, H3BTS6, H3BUZ1
UniProt curated annotations — full annotation on UniProt →
Function. Potential monoatomic ion channel gated by mechanical force, implicated in normal touch sensitivity through the generation of mechanically activated currents. However, a direct channel activity is debated and an alternative could be that it functions as a chaperone for an unidentified mechanosensitive ion channel. Could also be involved in cell mechanosensitivity regulating cell adhesion and migration. May also be involved in retrograde transport from endosomes to the trans-Golgi network (TGN).
Subunit / interactions. May interact with STOML3; STOML3 potentiates the mechanosensitive ion channel activity associated with TMEM87A.
Subcellular location. Cell membrane. Golgi apparatus membrane Cell membrane. Cell projection. Ruffle.
Miscellaneous. Named Elkin, from the Greek word Elko, meaning ’to pull'.
Similarity. Belongs to the LU7TM family. TMEM87 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NBN3-1 | 1 | yes |
| Q8NBN3-2 | 2 | |
| Q8NBN3-3 | 3 |
RefSeq proteins (3): NP_001103973, NP_001273416, NP_056312* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009637 | GPR107/GPR108-like | Family |
| IPR053937 | GOST_TM | Domain |
| IPR054101 | TMEM87A/B_GOLD | Domain |
Pfam: PF06814, PF21901
UniProt features (69 total): helix 13, strand 11, topological domain 8, turn 8, transmembrane region 7, sequence conflict 5, glycosylation site 4, splice variant 3, compositionally biased region 2, disulfide bond 2, mutagenesis site 2, signal peptide 1, chain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8HSI | ELECTRON MICROSCOPY | 3.1 |
| 8KB4 | ELECTRON MICROSCOPY | 3.1 |
| 8HTT | ELECTRON MICROSCOPY | 3.6 |
| 8CTJ | ELECTRON MICROSCOPY | 4.74 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NBN3-F1 | 72.52 | 0.22 |
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 (1): 540
Disulfide bonds (2): 74–128, 89–431
Glycosylation sites (4): 79, 127, 157, 160
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 271 | reduced mechanosensitive channel activity in tmem87a-expressing cells. |
| 292 | reduced mechanosensitive channel activity in tmem87a-expressing cells. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8980692 | RHOA GTPase cycle |
MSigDB gene sets: 226 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, HNF1_Q6, GOCC_RUFFLE, CAGGTCC_MIR492, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, ONKEN_UVEAL_MELANOMA_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GATA1_03, AACTTT_UNKNOWN
GO Biological Process (3): retrograde transport, endosome to Golgi (GO:0042147), detection of mechanical stimulus involved in sensory perception of touch (GO:0050976), cellular response to mechanical stimulus (GO:0071260)
GO Molecular Function (0):
GO Cellular Component (8): Golgi membrane (GO:0000139), ruffle (GO:0001726), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), Golgi cisterna membrane (GO:0032580), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| detection of mechanical stimulus involved in sensory perception | 1 |
| sensory perception of touch | 1 |
| response to mechanical stimulus | 1 |
| cellular response to abiotic stimulus | 1 |
| cellular response to external stimulus | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cell leading edge | 1 |
| plasma membrane bounded cell projection | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| organelle membrane | 1 |
| Golgi cisterna | 1 |
Protein interactions and networks
STRING
686 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM87A | GPAA1 | O43292 | 528 |
| TMEM87A | TEPSIN | Q96N21 | 509 |
| TMEM87A | GPR107 | Q5VW38 | 477 |
| TMEM87A | CENATAC | Q86UT8 | 475 |
| TMEM87A | ZCCHC8 | Q6NZY4 | 449 |
| TMEM87A | C11orf87 | Q6NUJ2 | 448 |
| TMEM87A | RECQL5 | O94762 | 443 |
| TMEM87A | TVP23B | Q9NYZ1 | 429 |
| TMEM87A | RABL2A | Q9UBK7 | 415 |
| TMEM87A | TMEM150C | B9EJG8 | 413 |
| TMEM87A | ZBED8L | Q8TCP9 | 413 |
| TMEM87A | CLCN7 | P51798 | 410 |
| TMEM87A | KATNIP | O60303 | 403 |
| TMEM87A | TMEM120A | Q9BXJ8 | 402 |
| TMEM87A | TMEM63C | Q9P1W3 | 396 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RINT1 | NBAS | psi-mi:“MI:0914”(association) | 0.830 |
| SNX1 | SNX2 | psi-mi:“MI:0914”(association) | 0.740 |
| FPR2 | ARL6IP5 | psi-mi:“MI:0914”(association) | 0.640 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC9A6 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| SYP | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN5 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM184A | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCR6 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| NPTN | TNPO2 | psi-mi:“MI:0914”(association) | 0.530 |
| SIGMAR1 | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR17 | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| CMKLR1 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| TMEM87A | ARFGEF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| UPK1A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ERGIC3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL8 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (236): TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), AGPS (Co-fractionation), TMEM87A (Co-fractionation), TMEM87A (Proximity Label-MS), TMEM87A (Proximity Label-MS), TMEM87A (Proximity Label-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), TMEM87A (Affinity Capture-MS)
ESM2 similar proteins: A0JPH4, A3KFU9, A6H7H1, A7UA95, B9U3F2, D3ZWZ9, D4A6L0, E1BBQ2, F1M8G0, O15040, O54828, O75129, O88974, P49805, P97260, Q00M95, Q12770, Q13370, Q14432, Q15047, Q3B7M3, Q3B7T1, Q4ZIN3, Q5MNU5, Q5R9R1, Q5T848, Q5VW38, Q5ZKN3, Q61409, Q62865, Q63085, Q6A0A9, Q6F6B3, Q6GQV7, Q6L8S8, Q6P6V6, Q6PJF5, Q80WQ6, Q80Z10, Q86XL3
Diamond homologs: Q28EW0, Q8BKU8, Q8BXN9, Q8NBN3, Q96K49
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 139 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 |
|---|---|---|---|
| Chemokine receptors bind chemokines | 6 | 11.7× | 6e-04 |
| Class A/1 (Rhodopsin-like receptors) | 15 | 11.6× | 9e-10 |
| GPCR ligand binding | 13 | 8.7× | 5e-07 |
| Signaling by GPCR | 13 | 5.4× | 6e-05 |
| G alpha (i) signalling events | 13 | 5.3× | 6e-05 |
| GPCR downstream signalling | 11 | 5.0× | 6e-04 |
| G alpha (q) signalling events | 8 | 4.8× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 10 | 17.1× | 9e-08 |
| positive regulation of cytosolic calcium ion concentration | 13 | 11.9× | 3e-08 |
| cell chemotaxis | 7 | 10.1× | 8e-04 |
| calcium-mediated signaling | 7 | 10.0× | 8e-04 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 7 | 7.2× | 4e-03 |
| G protein-coupled receptor signaling pathway | 21 | 6.0× | 3e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2676 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:42211748:TCCTA:T | acceptor_loss | 1.0000 |
| 15:42211750:C:CC | acceptor_gain | 1.0000 |
| 15:42211751:T:A | acceptor_loss | 1.0000 |
| 15:42218322:CA:C | donor_gain | 1.0000 |
| 15:42218322:CACAT:C | donor_gain | 1.0000 |
| 15:42219575:A:AC | donor_gain | 1.0000 |
| 15:42219576:C:CC | donor_gain | 1.0000 |
| 15:42219576:CTTA:C | donor_gain | 1.0000 |
| 15:42219577:TTACT:T | donor_loss | 1.0000 |
| 15:42219578:TACTG:T | donor_loss | 1.0000 |
| 15:42219579:A:AC | donor_gain | 1.0000 |
| 15:42219579:ACTG:A | donor_gain | 1.0000 |
| 15:42219580:C:CT | donor_gain | 1.0000 |
| 15:42219580:CT:C | donor_gain | 1.0000 |
| 15:42219580:CTG:C | donor_gain | 1.0000 |
| 15:42219580:CTGC:C | donor_gain | 1.0000 |
| 15:42219580:CTGCT:C | donor_gain | 1.0000 |
| 15:42219638:TCCTT:T | acceptor_gain | 1.0000 |
| 15:42219639:CCTTC:C | acceptor_gain | 1.0000 |
| 15:42219640:CTT:C | acceptor_gain | 1.0000 |
| 15:42219641:TT:T | acceptor_gain | 1.0000 |
| 15:42219643:C:CC | acceptor_gain | 1.0000 |
| 15:42219643:C:G | acceptor_loss | 1.0000 |
| 15:42219645:G:C | acceptor_gain | 1.0000 |
| 15:42219645:G:GC | acceptor_gain | 1.0000 |
| 15:42220081:AGGCT:A | donor_gain | 1.0000 |
| 15:42220131:CAAAC:C | acceptor_gain | 1.0000 |
| 15:42220132:AAAC:A | acceptor_gain | 1.0000 |
| 15:42220134:AC:A | acceptor_gain | 1.0000 |
| 15:42220134:ACC:A | acceptor_loss | 1.0000 |
AlphaMissense
3630 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:42218358:C:A | W520C | 1.000 |
| 15:42218358:C:G | W520C | 1.000 |
| 15:42236335:C:A | G318V | 1.000 |
| 15:42236335:C:T | G318E | 1.000 |
| 15:42236336:C:G | G318R | 1.000 |
| 15:42236336:C:T | G318R | 1.000 |
| 15:42236340:A:C | S316R | 1.000 |
| 15:42236340:A:T | S316R | 1.000 |
| 15:42236342:T:G | S316R | 1.000 |
| 15:42237570:A:G | W244R | 1.000 |
| 15:42237570:A:T | W244R | 1.000 |
| 15:42218360:A:G | W520R | 0.999 |
| 15:42218360:A:T | W520R | 0.999 |
| 15:42220133:A:C | F469C | 0.999 |
| 15:42226824:G:T | P462Q | 0.999 |
| 15:42226825:G:A | P462S | 0.999 |
| 15:42226831:A:G | W460R | 0.999 |
| 15:42226831:A:T | W460R | 0.999 |
| 15:42226833:A:G | L459P | 0.999 |
| 15:42226862:G:C | F449L | 0.999 |
| 15:42226862:G:T | F449L | 0.999 |
| 15:42226864:A:G | F449L | 0.999 |
| 15:42226892:C:A | W439C | 0.999 |
| 15:42226892:C:G | W439C | 0.999 |
| 15:42226894:A:G | W439R | 0.999 |
| 15:42226894:A:T | W439R | 0.999 |
| 15:42226904:C:A | W435C | 0.999 |
| 15:42226904:C:G | W435C | 0.999 |
| 15:42228729:A:G | L408P | 0.999 |
| 15:42228729:A:T | L408H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000019196 (15:42253475 C>T), RS1000044449 (15:42243804 G>A), RS1000111738 (15:42250058 G>A), RS1000121375 (15:42237956 C>A,T), RS1000124764 (15:42249845 A>G), RS1000235423 (15:42257175 T>C), RS1000328008 (15:42231671 G>A,T), RS1000329127 (15:42229614 C>T), RS1000340122 (15:42255132 G>A,T), RS1000374153 (15:42269733 G>A), RS1000375057 (15:42270659 G>C), RS1000435560 (15:42263751 GA>G,GAA), RS1000462226 (15:42238012 T>C), RS1000490497 (15:42239082 C>T), RS1000532898 (15:42210417 G>T)
Disease associations
OMIM: gene MIM:621342 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004122_26 | Fibrinogen levels | 2.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| pentanal | decreases expression | 1 |
| 3-deazaneplanocin | increases expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | 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 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases abundance, increases expression, decreases expression, affects cotreatment | 1 |
| Benzene | increases expression | 1 |
| Bleomycin | increases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Demecolcine | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7HP | Ubigene HEK293T TMEM87A KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.