TRAM1
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Also known as TRAMTRAMP
Summary
TRAM1 (translocation associated membrane protein 1, HGNC:20568) is a protein-coding gene on chromosome 8q13.3, encoding Translocating chain-associated membrane protein 1 (Q15629). Involved in the translocation of nascent protein chains into or through the endoplasmic reticulum (ER) membrane by facilitating the proper chain positioning at the SEC61 channel.
This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause.
Source: NCBI Gene 23471 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 56 total
- Druggable target: yes
- MANE Select transcript:
NM_014294
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20568 |
| Approved symbol | TRAM1 |
| Name | translocation associated membrane protein 1 |
| Location | 8q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRAM, TRAMP |
| Ensembl gene | ENSG00000067167 |
| Ensembl biotype | protein_coding |
| OMIM | 605190 |
| Entrez | 23471 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 15 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000262213, ENST00000518678, ENST00000520700, ENST00000521049, ENST00000521425, ENST00000884663, ENST00000884664, ENST00000884665, ENST00000884666, ENST00000884667, ENST00000884668, ENST00000884669, ENST00000884670, ENST00000952367, ENST00000952368, ENST00000952369, ENST00000952370
RefSeq mRNA: 3 — MANE Select: NM_014294
NM_001317804, NM_001317805, NM_014294
CCDS: CCDS6207, CCDS83300
Canonical transcript exons
ENST00000262213 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000819638 | 70608077 | 70608416 |
| ENSE00000980832 | 70594506 | 70594590 |
| ENSE00000980835 | 70583650 | 70583793 |
| ENSE00000980836 | 70583164 | 70583324 |
| ENSE00003509824 | 70586895 | 70586999 |
| ENSE00003510441 | 70597895 | 70598011 |
| ENSE00003518934 | 70587106 | 70587176 |
| ENSE00003563640 | 70600019 | 70600082 |
| ENSE00003587566 | 70598134 | 70598255 |
| ENSE00003690798 | 70596263 | 70596321 |
| ENSE00003847185 | 70573218 | 70575005 |
Expression profiles
Bgee: expression breadth ubiquitous, 303 present calls, max score 99.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 130.4266 / max 952.0787, expressed in 1823 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93524 | 100.4300 | 1823 |
| 93525 | 12.6208 | 1799 |
| 93522 | 7.4189 | 1734 |
| 93523 | 7.1654 | 1713 |
| 93520 | 1.4149 | 826 |
| 93519 | 0.4817 | 260 |
| 93521 | 0.3878 | 177 |
| 93526 | 0.3426 | 148 |
| 205219 | 0.1646 | 77 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| choroid plexus epithelium | UBERON:0003911 | 99.81 | gold quality |
| visceral pleura | UBERON:0002401 | 99.64 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.54 | gold quality |
| caput epididymis | UBERON:0004358 | 99.52 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.49 | gold quality |
| parotid gland | UBERON:0001831 | 99.45 | gold quality |
| pleura | UBERON:0000977 | 99.43 | gold quality |
| parietal pleura | UBERON:0002400 | 99.37 | gold quality |
| epididymis | UBERON:0001301 | 99.20 | gold quality |
| tibia | UBERON:0000979 | 99.10 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.04 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.93 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.91 | gold quality |
| nasopharynx | UBERON:0001728 | 98.89 | gold quality |
| periodontal ligament | UBERON:0008266 | 98.89 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.87 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.86 | gold quality |
| eye | UBERON:0000970 | 98.73 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.70 | gold quality |
| pericardium | UBERON:0002407 | 98.70 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.69 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.68 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.65 | gold quality |
| endometrium | UBERON:0001295 | 98.64 | gold quality |
| body of pancreas | UBERON:0001150 | 98.62 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.62 | gold quality |
| pancreas | UBERON:0001264 | 98.59 | gold quality |
| upper leg skin | UBERON:0004262 | 98.59 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.51 | gold quality |
| synovial joint | UBERON:0002217 | 98.48 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 82.87 |
| E-HCAD-1 | yes | 50.64 |
| E-MTAB-9467 | yes | 45.68 |
| E-CURD-46 | yes | 44.19 |
| E-CURD-122 | yes | 41.69 |
| E-HCAD-4 | yes | 41.13 |
| E-MTAB-8410 | yes | 31.45 |
| E-HCAD-13 | yes | 11.79 |
| E-MTAB-9801 | yes | 6.44 |
| E-GEOD-130148 | yes | 5.17 |
| E-MTAB-6524 | no | 147.60 |
| E-HCAD-5 | no | 2.25 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
180 targeting TRAM1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
Literature-anchored findings (GeneRIF, showing 4)
- TRAM1 protect HepG2 cells from palmitate-induced insulin resistance. The protection of TRAM1 to HepG2 cells is through endoplasmic reticulum stress-JNK pathway. (PMID:25600807)
- The human TRAM1 locus expresses circular RNAs. (PMID:34764360)
- Identification of TRAMs as sphingolipid-binding proteins using a photoactivatable and clickable short-chain ceramide analog. (PMID:34793833)
- The REEP5/TRAM1 complex binds SARS-CoV-2 NSP3 and promotes virus replication. (PMID:37768083)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tram1 | ENSDARG00000019137 |
| mus_musculus | Tram1 | ENSMUSG00000025935 |
| rattus_norvegicus | Tram1 | ENSRNOG00000007892 |
| drosophila_melanogaster | TRAM | FBGN0040340 |
| caenorhabditis_elegans | WBGENE00007696 |
Paralogs (2): TRAM2 (ENSG00000065308), TRAM1L1 (ENSG00000174599)
Protein
Protein identifiers
Translocating chain-associated membrane protein 1 — Q15629 (reviewed: Q15629)
All UniProt accessions (4): Q15629, E5RFP8, G3XAN4, Q6FHL3
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the translocation of nascent protein chains into or through the endoplasmic reticulum (ER) membrane by facilitating the proper chain positioning at the SEC61 channel. Regulates the exposure of nascent secretory protein chain to the cytosol during translocation into the ER. May affect the phospholipid bilayer in the vicinity of the lateral gate of the SEC61 channel, thereby facilitating ER protein transport. Intimately associates with transmembrane (TM) domain of nascent membrane proteins during the entire integration process into the ER membrane. Associates with the second TM domain of G-protein-coupled receptor opsin/OPSD nascent chain in the ER membrane, which may facilitate its integration into the membrane. Under conditions of ER stress, participates in the disposal of misfolded ER membrane proteins during the unfolded protein response (UPR), an integrated stress response (ISR) pathway, by selectively retrotranslocating misfolded ER-membrane proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome. (Microbial infection) In case of cytomegalovirus infection, participates in US2- and US11-mediated ER-to-cytosol retrotranslocation and subsequent degradation of major histocompatibility complex (MHC) class I heavy chains, thereby decreasing the immune detection by cytotoxic T-cells.
Subunit / interactions. Interacts with SEC61B. May interact with Derlin-1/DERL1. (Microbial infection) Interacts with human cytomegalovirus/HHV-5 proteins US2 and US11.
Subcellular location. Endoplasmic reticulum membrane.
Post-translational modifications. N-glycosylated.
Induction. Up-regulated upon endoplasmic reticulum stress.
Similarity. Belongs to the TRAM family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15629-1 | 1 | yes |
| Q15629-2 | 2 |
RefSeq proteins (3): NP_001304733, NP_001304734, NP_055109* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006634 | TLC-dom | Domain |
| IPR016447 | Translocation_assoc_membrane | Family |
Pfam: PF03798
UniProt features (25 total): topological domain 9, transmembrane region 8, compositionally biased region 2, chain 1, domain 1, region of interest 1, modified residue 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15629-F1 | 84.56 | 0.64 |
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): 365
Glycosylation sites (1): 56
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
MSigDB gene sets: 284 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GGGACCA_MIR133A_MIR133B, TGCGCANK_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCM_MSN, TTTGTAG_MIR520D, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, CACCAGC_MIR138, CAGCTG_AP4_Q5, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE
GO Biological Process (5): cotranslational protein targeting to membrane (GO:0006613), SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616), response to unfolded protein (GO:0006986), protein insertion into ER membrane (GO:0045048), protein transport (GO:0015031)
GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Translation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein targeting to membrane | 1 |
| SRP-dependent cotranslational protein targeting to membrane | 1 |
| intracellular protein transmembrane transport | 1 |
| response to topologically incorrect protein | 1 |
| endoplasmic reticulum organization | 1 |
| protein localization to organelle | 1 |
| protein insertion into membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
644 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRAM1 | SSR2 | P43308 | 889 |
| TRAM1 | APLP2 | Q06481 | 466 |
| TRAM1 | CCDC47 | Q96A33 | 448 |
| TRAM1 | SEC63 | Q9UGP8 | 438 |
| TRAM1 | SEC61A1 | P38378 | 430 |
| TRAM1 | VKORC1 | Q9BQB6 | 416 |
| TRAM1 | TMCO1 | Q9UM00 | 412 |
| TRAM1 | CLN8 | Q9UBY8 | 407 |
| TRAM1 | TM4SF20 | Q53R12 | 405 |
| TRAM1 | EMILIN2 | Q9BXX0 | 382 |
| TRAM1 | CWF19L2 | Q2TBE0 | 363 |
| TRAM1 | HID1 | Q8IV36 | 363 |
| TRAM1 | SMG5 | Q9UPR3 | 354 |
| TRAM1 | TMEM231 | Q9H6L2 | 351 |
| TRAM1 | TLCD1 | Q96CP7 | 349 |
IntAct
72 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DDX3X | psi-mi:“MI:0914”(association) | 0.630 | |
| TRAM1 | BCAP31 | psi-mi:“MI:0915”(physical association) | 0.600 |
| BCAP31 | TRAM1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| BCAP31 | TRAM1 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| GUCA2A | TRAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC6A8 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| UNC93B1 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| TRAM1 | GOPC | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRAM1 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRAM1 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRAM1 | GAMMAHV.ORF39 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| E6 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SNAP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| VWA8 | psi-mi:“MI:0914”(association) | 0.350 | |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| BFRF1A | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 | |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (124): TRAM1 (Proximity Label-MS), TRAM1 (Two-hybrid), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Reconstituted Complex), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS), TRAM1 (Affinity Capture-MS)
ESM2 similar proteins: A2AKM2, A4FUY9, A5D6V4, A7YY55, A8WGS4, Q01685, Q0P5C7, Q15629, Q3T124, Q4R8A8, Q4V8U5, Q5BJF2, Q5GH60, Q5GH61, Q5GH68, Q5HZE5, Q5ND56, Q5NVQ2, Q5R7Z3, Q5U2T1, Q5VWC8, Q5XI41, Q5ZM57, Q60457, Q6DED0, Q6GLX2, Q6GNB5, Q6P4N1, Q6PP77, Q6YWS8, Q7SY06, Q84QC0, Q86X19, Q8CGF5, Q8K0U3, Q8K2C9, Q8N609, Q8QZR0, Q8R000, Q8VZB2
Diamond homologs: Q01685, Q15035, Q15629, Q5E9R6, Q5R7Z3, Q5XI41, Q6DED0, Q8N609, Q8QZR0, Q91V04, Q924Z5, Q9GKZ4, A6ZSP9, O59735, P27544, P38703, P78970, Q1A3B0, Q3ZBF8, Q6EUN0, Q6NQI8, Q6YWS8, Q6ZMG9, Q84QC0, Q8C172, Q8IU89, Q8N5B7, Q8W4Y5, Q924Z4, Q96G23, Q9D6J1, Q9D6K9, Q9HA82, Q9LDF2, Q9LJK3, Q9M6A3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 76 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 |
|---|---|---|---|
| Amino acid transport across the plasma membrane | 5 | 39.5× | 1e-05 |
| R-HSA-425366 | 6 | 28.6× | 1e-05 |
| SLC-mediated transmembrane transport | 8 | 12.5× | 1e-05 |
| Transport of small molecules | 8 | 5.3× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| amino acid transport | 8 | 46.2× | 3e-09 |
| sodium ion transmembrane transport | 5 | 18.8× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1512 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:70575006:C:CC | acceptor_gain | 1.0000 |
| 8:70583151:A:AC | donor_gain | 1.0000 |
| 8:70583152:C:CC | donor_gain | 1.0000 |
| 8:70583320:CGATT:C | acceptor_gain | 1.0000 |
| 8:70583323:TT:T | acceptor_gain | 1.0000 |
| 8:70583325:C:CC | acceptor_gain | 1.0000 |
| 8:70587104:A:AC | donor_gain | 1.0000 |
| 8:70587105:C:CC | donor_gain | 1.0000 |
| 8:70587105:CTT:C | donor_gain | 1.0000 |
| 8:70587173:CTTC:C | acceptor_gain | 1.0000 |
| 8:70587175:TCCT:T | acceptor_loss | 1.0000 |
| 8:70587177:C:CA | acceptor_loss | 1.0000 |
| 8:70587177:C:CC | acceptor_gain | 1.0000 |
| 8:70587178:T:A | acceptor_loss | 1.0000 |
| 8:70594504:A:AC | donor_gain | 1.0000 |
| 8:70594505:C:CT | donor_gain | 1.0000 |
| 8:70595199:T:A | donor_gain | 1.0000 |
| 8:70596261:A:AC | donor_gain | 1.0000 |
| 8:70596262:C:CC | donor_gain | 1.0000 |
| 8:70596262:CGT:C | donor_gain | 1.0000 |
| 8:70596318:TTTCC:T | acceptor_loss | 1.0000 |
| 8:70596320:TCCTA:T | acceptor_loss | 1.0000 |
| 8:70596321:CCTA:C | acceptor_loss | 1.0000 |
| 8:70596322:CTAAG:C | acceptor_loss | 1.0000 |
| 8:70597889:A:AC | donor_gain | 1.0000 |
| 8:70597889:AC:A | donor_loss | 1.0000 |
| 8:70597890:C:CC | donor_gain | 1.0000 |
| 8:70597890:CT:C | donor_loss | 1.0000 |
| 8:70597891:TT:T | donor_loss | 1.0000 |
| 8:70597892:TAC:T | donor_loss | 1.0000 |
AlphaMissense
2462 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:70608146:G:C | F18L | 0.997 |
| 8:70608146:G:T | F18L | 0.997 |
| 8:70608148:A:G | F18L | 0.997 |
| 8:70583769:A:C | F257L | 0.996 |
| 8:70583769:A:T | F257L | 0.996 |
| 8:70583771:A:G | F257L | 0.996 |
| 8:70586931:C:G | R237P | 0.996 |
| 8:70597915:C:G | G136R | 0.996 |
| 8:70597953:C:T | G123D | 0.996 |
| 8:70597957:A:G | S122P | 0.996 |
| 8:70583270:G:C | F315L | 0.995 |
| 8:70583270:G:T | F315L | 0.995 |
| 8:70583272:A:G | F315L | 0.995 |
| 8:70583790:A:C | F250L | 0.995 |
| 8:70583790:A:T | F250L | 0.995 |
| 8:70583792:A:G | F250L | 0.995 |
| 8:70597943:A:C | S126R | 0.995 |
| 8:70597943:A:T | S126R | 0.995 |
| 8:70597945:T:G | S126R | 0.995 |
| 8:70598160:C:G | A95P | 0.995 |
| 8:70598207:T:G | D79A | 0.995 |
| 8:70598208:C:G | D79H | 0.995 |
| 8:70583302:A:G | C305R | 0.994 |
| 8:70583783:A:G | W253R | 0.994 |
| 8:70583783:A:T | W253R | 0.994 |
| 8:70586986:C:G | G219R | 0.994 |
| 8:70586986:C:T | G219R | 0.994 |
| 8:70594550:A:G | W176R | 0.994 |
| 8:70594550:A:T | W176R | 0.994 |
| 8:70594578:C:A | K166N | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000038123 (8:70575410 TTTTA>T), RS1000046525 (8:70578067 G>A,T), RS1000153662 (8:70606288 G>A,T), RS1000166349 (8:70597983 T>C), RS1000224668 (8:70604612 G>C), RS1000265877 (8:70581335 T>G), RS1000296846 (8:70604415 T>C), RS1000531784 (8:70594108 C>T), RS1000562253 (8:70606302 C>T), RS1000676487 (8:70605914 T>A,C), RS1000755438 (8:70607628 C>A,T), RS1000865207 (8:70584563 C>A,T), RS1000880117 (8:70594646 A>C), RS1000965631 (8:70576958 G>C), RS1000996619 (8:70592233 T>C)
Disease associations
OMIM: gene MIM:605190 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001776_2 | Cardiac Troponin-T levels | 9.000000e-09 |
| GCST003448_1 | Erythrocyte cadmium concentration in never smokers | 3.000000e-11 |
| GCST006291_69 | Spherical equivalent or myopia (age of diagnosis) | 4.000000e-10 |
| GCST010002_303 | Refractive error | 1.000000e-26 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005043 | cardiac troponin T measurement |
| EFO:0004847 | age at onset |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067446 (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 |
|---|---|---|---|---|
| 6.44 | Kd | 362.2 | nM | CHEMBL5653589 |
| 6.44 | ED50 | 362.2 | 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 | 2149653: Binding affinity to human TRAM1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.3622 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects binding, increases reaction, decreases expression, increases expression | 5 |
| Cyclosporine | decreases methylation, increases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases mutagenesis | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | affects expression | 1 |
| kojic acid | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| cupric oxide | decreases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
| bicalutamide | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | affects expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 1 |
| Bile Acids and Salts | increases expression | 1 |
| Doxorubicin | 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 |
|---|---|---|---|
| CHEMBL5652695 | Binding | Binding affinity to human TRAM1 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): refractive error