MTERF4
gene geneOn this page
Also known as MGC61716
Summary
MTERF4 (mitochondrial transcription termination factor 4, HGNC:28785) is a protein-coding gene on chromosome 2q37.3, encoding Transcription termination factor 4, mitochondrial (Q7Z6M4). Regulator of mitochondrial ribosome biogenesis and translation. It is a selective cancer dependency (DepMap: 13.7% of cell lines).
Enables rRNA binding activity. Predicted to be involved in mitochondrial ribosome assembly and mitochondrial transcription. Predicted to act upstream of or within several processes, including camera-type eye development; protein targeting to mitochondrion; and ribosome assembly. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit.
Source: NCBI Gene 130916 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 273 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 13.7% of screened cell lines
- MANE Select transcript:
NM_182501
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28785 |
| Approved symbol | MTERF4 |
| Name | mitochondrial transcription termination factor 4 |
| Location | 2q37.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC61716 |
| Ensembl gene | ENSG00000122085 |
| Ensembl biotype | protein_coding |
| OMIM | 615393 |
| Entrez | 130916 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 13 protein_coding, 6 protein_coding_CDS_not_defined, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000241527, ENST00000391980, ENST00000401626, ENST00000406593, ENST00000407095, ENST00000414146, ENST00000424798, ENST00000434791, ENST00000439144, ENST00000449133, ENST00000455202, ENST00000460915, ENST00000464344, ENST00000475860, ENST00000476564, ENST00000479205, ENST00000480298, ENST00000488567, ENST00000493169, ENST00000495694, ENST00000496878, ENST00000614476, ENST00000902117, ENST00000923999
RefSeq mRNA: 3 — MANE Select: NM_182501
NM_001330179, NM_001330180, NM_182501
CCDS: CCDS2544, CCDS82584
Canonical transcript exons
ENST00000391980 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000827773 | 241099396 | 241099894 |
| ENSE00001510314 | 241095571 | 241096438 |
| ENSE00001601042 | 241102253 | 241102287 |
| ENSE00003694390 | 241097243 | 241097427 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 96.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6596 / max 361.1099, expressed in 1813 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 34879 | 28.6596 | 1813 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 96.25 | gold quality |
| sural nerve | UBERON:0015488 | 96.25 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.95 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.76 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.71 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.67 | gold quality |
| thyroid gland | UBERON:0002046 | 95.02 | gold quality |
| left ovary | UBERON:0002119 | 94.18 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.68 | gold quality |
| right ovary | UBERON:0002118 | 93.57 | gold quality |
| muscle of leg | UBERON:0001383 | 93.55 | gold quality |
| parotid gland | UBERON:0001831 | 93.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.52 | gold quality |
| cerebellum | UBERON:0002037 | 93.40 | gold quality |
| body of pancreas | UBERON:0001150 | 93.23 | gold quality |
| lymph node | UBERON:0000029 | 93.20 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.15 | gold quality |
| body of uterus | UBERON:0009853 | 93.05 | gold quality |
| right uterine tube | UBERON:0001302 | 92.87 | gold quality |
| tibial nerve | UBERON:0001323 | 92.70 | gold quality |
| left uterine tube | UBERON:0001303 | 92.41 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.34 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.18 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.12 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.08 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.07 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.97 | gold quality |
| endocervix | UBERON:0000458 | 91.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting MTERF4, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| 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-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-653-5P | 99.46 | 67.35 | 1300 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-4699-5P | 98.99 | 67.50 | 1210 |
| HSA-MIR-1288-5P | 98.85 | 67.01 | 734 |
| HSA-MIR-7705 | 98.69 | 67.47 | 543 |
| HSA-MIR-548AT-3P | 98.37 | 64.98 | 580 |
| HSA-MIR-548AY-3P | 98.37 | 65.14 | 562 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-125A-3P | 97.04 | 66.92 | 902 |
| HSA-MIR-711 | 96.60 | 65.75 | 528 |
| HSA-MIR-554 | 95.20 | 66.98 | 341 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 13.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- analysis of the 3D crystal structure of the human MTERF4-NSUN4 complex (PMID:22949673)
- The overexpression of MTERF4 induced a significant increase in the levels of APP protein and secreted Abeta 42 in HEK293-APPswe cells compared with control cells these results suggest that MTERF4 promotes the amyloidogenic processing of APP by inhibiting ADAM10 in HEK293-APPswe cells; therefore, MTERF4 may play an important role in the pathogenesis of Alzheimer’s disease. (PMID:27894840)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mterf4 | ENSDARG00000079124 |
| mus_musculus | Mterf4 | ENSMUSG00000026273 |
| rattus_norvegicus | Mterf4 | ENSRNOG00000037376 |
| drosophila_melanogaster | CG15390 | FBGN0031419 |
| caenorhabditis_elegans | mter-4 | WBGENE00010771 |
Protein
Protein identifiers
Transcription termination factor 4, mitochondrial — Q7Z6M4 (reviewed: Q7Z6M4)
Alternative names: Mitochondrial transcription termination factor 4, mTERF domain-containing protein 2
All UniProt accessions (10): B4DFP7, B4DKD5, B5MBW3, C9JNJ7, C9JX74, E7EW93, Q7Z6M4, H7C1N9, H7C316, H7C3Q3
UniProt curated annotations — full annotation on UniProt →
Function. Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S).
Subunit / interactions. Heterodimer with NSUN4; this interaction may be required for NSUN4 recruitment to the mitochondrial large ribosomal subunit.
Subcellular location. Mitochondrion.
Post-translational modifications. The mature mitochondrial protein exists in 2 forms differing at the level of their N-terminus, one is starting at residue 43 and the other at residue 48.
Domain organisation. The MTERF repeats form a half-donut shaped, right-handed superhelix, where the concave side displays a positively charged path for nucleic acid interaction.
Similarity. Belongs to the mTERF family.
RefSeq proteins (3): NP_001317108, NP_001317109, NP_872307* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003690 | MTERF | Family |
| IPR038538 | MTERF_sf | Homologous_superfamily |
Pfam: PF02536
UniProt features (42 total): helix 18, sequence variant 5, repeat 5, sequence conflict 4, turn 3, chain 2, region of interest 2, transit peptide 1, compositionally biased region 1, strand 1
Structure
Experimental structures (PDB)
15 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4FZV | X-RAY DIFFRACTION | 2 |
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 4FP9 | X-RAY DIFFRACTION | 2.9 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8QSJ | ELECTRON MICROSCOPY | 3 |
| 8PK0 | ELECTRON MICROSCOPY | 3.03 |
| 7O9K | ELECTRON MICROSCOPY | 3.1 |
| 7ODS | ELECTRON MICROSCOPY | 3.1 |
| 7ODT | ELECTRON MICROSCOPY | 3.1 |
| 7OIC | ELECTRON MICROSCOPY | 3.1 |
| 7PD3 | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z6M4-F1 | 77.13 | 0.60 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6793080 | rRNA modification in the mitochondrion |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868766 | rRNA processing in the mitochondrion |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 136 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_RIBOSOME_ASSEMBLY, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, CCAGGTT_MIR490, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, WANG_RESPONSE_TO_ANDROGEN_UP, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, REACTOME_METABOLISM_OF_RNA, OSMAN_BLADDER_CANCER_DN, YAGI_AML_WITH_T_9_11_TRANSLOCATION
GO Biological Process (7): rRNA processing (GO:0006364), heart development (GO:0007507), camera-type eye development (GO:0043010), mitochondrial ribosome assembly (GO:0061668), mitochondrial large ribosomal subunit assembly (GO:1902775), regulation of mitochondrial transcription (GO:1903108), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (7): rRNA binding (GO:0019843), protein-RNA adaptor activity (GO:0140517), RNA folding chaperone (GO:0140691), nucleic acid binding (GO:0003676), double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the mitochondrion | 1 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cytoplasm | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| animal organ development | 1 |
| circulatory system development | 1 |
| eye development | 1 |
| ribosome assembly | 1 |
| ribosomal large subunit assembly | 1 |
| mitochondrial ribosome assembly | 1 |
| regulation of DNA-templated transcription | 1 |
| mitochondrial transcription | 1 |
| regulation of mitochondrial gene expression | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| RNA binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| molecular_function | 1 |
| RNA folding | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1028 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MTERF4 | NSUN4 | Q96CB9 | 998 |
| MTERF4 | MALSU1 | Q96EH3 | 829 |
| MTERF4 | MTG1 | Q9BT17 | 811 |
| MTERF4 | MTERF1 | Q99551 | 771 |
| MTERF4 | MTERF2 | Q49AM1 | 769 |
| MTERF4 | MTG2 | Q9H4K7 | 739 |
| MTERF4 | POLRMT | O00411 | 731 |
| MTERF4 | GTPBP10 | A4D1E9 | 720 |
| MTERF4 | MRM2 | Q9UI43 | 708 |
| MTERF4 | TFB1M | Q8WVM0 | 677 |
| MTERF4 | DDX28 | Q9NUL7 | 667 |
| MTERF4 | NSUN3 | Q9H649 | 663 |
| MTERF4 | MRM3 | Q9HC36 | 652 |
| MTERF4 | MRM1 | Q6IN84 | 644 |
| MTERF4 | GTPBP6 | O43824 | 616 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MTERF4 | NSUN4 | psi-mi:“MI:0915”(physical association) | 0.760 |
| MTERF4 | NSUN4 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| CA10 | WDHD1 | psi-mi:“MI:0914”(association) | 0.640 |
| EMD | MTERF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTERF4 | BANP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTERF4 | OSGIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | MTERF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTERF4 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTERF4 | TNFRSF10D | psi-mi:“MI:0915”(physical association) | 0.560 |
| INSL3 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| KBTBD7 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| HDGFL2 | CDC7 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL12 | psi-mi:“MI:0914”(association) | 0.350 | |
| MND1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.350 |
| KBTBD7 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-MS), MTERF4 (Affinity Capture-RNA), MTERF4 (Two-hybrid), CIDEB (Two-hybrid), OSGIN1 (Two-hybrid), BANP (Two-hybrid), TNFRSF10D (Two-hybrid), DGAT2L6 (Two-hybrid)
ESM2 similar proteins: A1L3F5, A1L3L1, A2RT67, A6NFN9, A6QPR9, A7MBF6, B9EJ57, F4IHL3, H2LP95, O81916, P0C6R2, Q28CB1, Q29RL0, Q2HJ90, Q49AM1, Q4G078, Q4R683, Q5R6G1, Q5R9U8, Q5RD21, Q5RFI6, Q5XIE2, Q5ZJC8, Q6AUK6, Q6NXY1, Q6P6Q6, Q6ZRR7, Q7L8L6, Q7TMV3, Q7Z494, Q7Z6M4, Q80YS9, Q8BKY8, Q8BVN4, Q8CDN9, Q8CHZ9, Q8NEN0, Q8R3J4, Q8S8F2, Q8W519
Diamond homologs: Q4G078, Q7Z6M4, Q8BVN4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MTERF4 | “form complex” | “MTERF4-NSUN4 mitochondiral ribosomal assembly complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 5 | 26.7× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
273 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 209 |
| Likely benign | 18 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 830538 | NC_000002.11:g.(?241808273)(242708241_?)del | Pathogenic |
SpliceAI
2700 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:241073361:GGAA:G | donor_gain | 1.0000 |
| 2:241073362:G:GT | donor_gain | 1.0000 |
| 2:241073362:GAA:G | donor_gain | 1.0000 |
| 2:241073365:G:GG | donor_gain | 1.0000 |
| 2:241096439:C:CC | acceptor_gain | 1.0000 |
| 2:241097239:TCA:T | donor_loss | 1.0000 |
| 2:241097240:CA:C | donor_loss | 1.0000 |
| 2:241097241:ACCTG:A | donor_loss | 1.0000 |
| 2:241097242:CCTG:C | donor_loss | 1.0000 |
| 2:241102248:CTTA:C | donor_loss | 1.0000 |
| 2:241102249:TTACC:T | donor_loss | 1.0000 |
| 2:241102250:TACCT:T | donor_loss | 1.0000 |
| 2:241081676:GAC:G | acceptor_gain | 0.9900 |
| 2:241081789:GCTCG:G | donor_gain | 0.9900 |
| 2:241081790:CTCGG:C | donor_loss | 0.9900 |
| 2:241081791:TCGGT:T | donor_loss | 0.9900 |
| 2:241081792:CGG:C | donor_loss | 0.9900 |
| 2:241081793:GGT:G | donor_loss | 0.9900 |
| 2:241081794:GT:G | donor_loss | 0.9900 |
| 2:241081795:TAAGT:T | donor_loss | 0.9900 |
| 2:241094275:ACCT:A | donor_gain | 0.9900 |
| 2:241094276:CCTC:C | donor_gain | 0.9900 |
| 2:241094278:T:TA | donor_gain | 0.9900 |
| 2:241094343:A:C | donor_gain | 0.9900 |
| 2:241094430:CTG:C | acceptor_gain | 0.9900 |
| 2:241095953:T:A | donor_gain | 0.9900 |
| 2:241095954:C:A | donor_gain | 0.9900 |
| 2:241095988:T:TA | donor_gain | 0.9900 |
| 2:241096002:T:TA | donor_gain | 0.9900 |
| 2:241096005:T:TA | donor_gain | 0.9900 |
AlphaMissense
2540 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:241096241:A:C | F301L | 0.993 |
| 2:241096241:A:T | F301L | 0.993 |
| 2:241096243:A:G | F301L | 0.993 |
| 2:241096335:C:G | R270P | 0.992 |
| 2:241096427:G:C | F239L | 0.991 |
| 2:241096427:G:T | F239L | 0.991 |
| 2:241096429:A:G | F239L | 0.991 |
| 2:241097246:A:C | F234L | 0.991 |
| 2:241097246:A:T | F234L | 0.991 |
| 2:241097248:A:G | F234L | 0.991 |
| 2:241096196:A:C | F316L | 0.990 |
| 2:241096196:A:T | F316L | 0.990 |
| 2:241096198:A:G | F316L | 0.990 |
| 2:241096242:A:G | F301S | 0.989 |
| 2:241096324:A:C | Y274D | 0.989 |
| 2:241097328:A:G | F207S | 0.989 |
| 2:241096188:A:G | L319P | 0.985 |
| 2:241096341:A:G | L268P | 0.985 |
| 2:241097247:A:G | F234S | 0.984 |
| 2:241096352:T:A | R264S | 0.982 |
| 2:241096352:T:G | R264S | 0.982 |
| 2:241097327:G:C | F207L | 0.982 |
| 2:241097327:G:T | F207L | 0.982 |
| 2:241097329:A:G | F207L | 0.982 |
| 2:241097335:A:G | C205R | 0.982 |
| 2:241096323:T:G | Y274S | 0.981 |
| 2:241099605:A:G | F104S | 0.981 |
| 2:241096242:A:C | F301C | 0.979 |
| 2:241096345:A:C | Y267D | 0.978 |
| 2:241096336:G:T | R270S | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000015077 (2:241076422 G>T), RS1000107414 (2:241090887 A>G), RS1000196783 (2:241075563 C>A), RS1000210579 (2:241061884 A>G), RS1000217825 (2:241045038 G>A), RS1000242987 (2:241081677 A>G,T), RS1000340659 (2:241087751 G>A), RS1000352817 (2:241070666 G>A), RS1000372052 (2:241087521 C>G), RS1000440430 (2:241044787 C>G), RS1000453581 (2:241065972 G>C), RS1000492617 (2:241071384 C>T), RS1000506931 (2:241056875 C>T), RS1000531170 (2:241074369 C>T), RS1000572298 (2:241081838 G>A)
Disease associations
OMIM: gene MIM:615393 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001554_3 | Sex hormone-binding globulin levels | 3.000000e-06 |
| GCST012227_981 | Hip circumference adjusted for BMI | 8.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004696 | sex hormone-binding globulin measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, increases methylation | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| sodium arsenite | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Colforsin | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases cleavage, decreases expression, decreases reaction | 1 |
| Metribolone | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_KT78 | HeLa SilenciX MTERFD2 | Cancer 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.