ETV7
gene geneOn this page
Also known as TEL2TEL-2
Summary
ETV7 (ETS variant transcription factor 7, HGNC:18160) is a protein-coding gene on chromosome 6p21.31, encoding Transcription factor ETV7 (Q9Y603). Transcriptional repressor; binds to the DNA sequence 5’-CCGGAAGT-3'.
The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).
Source: NCBI Gene 51513 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 81 total
- Transcription factor: yes — 15 downstream targets (CollecTRI)
- MANE Select transcript:
NM_016135
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18160 |
| Approved symbol | ETV7 |
| Name | ETS variant transcription factor 7 |
| Location | 6p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TEL2, TEL-2 |
| Ensembl gene | ENSG00000010030 |
| Ensembl biotype | protein_coding |
| OMIM | 605255 |
| Entrez | 51513 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000339796, ENST00000340181, ENST00000373737, ENST00000373738, ENST00000538992, ENST00000615781, ENST00000620358, ENST00000627426
RefSeq mRNA: 8 — MANE Select: NM_016135
NM_001207035, NM_001207036, NM_001207037, NM_001207038, NM_001207039, NM_001207040, NM_001207041, NM_016135
CCDS: CCDS4819, CCDS56422, CCDS56423, CCDS56424, CCDS56425, CCDS75440, CCDS75441, CCDS78131
Canonical transcript exons
ENST00000340181 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000748827 | 36368929 | 36369071 |
| ENSE00000748873 | 36375871 | 36376035 |
| ENSE00000748877 | 36385534 | 36385669 |
| ENSE00001839820 | 36366194 | 36366762 |
| ENSE00002243315 | 36366875 | 36366975 |
| ENSE00003478807 | 36373453 | 36373578 |
| ENSE00003481317 | 36371330 | 36371560 |
| ENSE00003849349 | 36387536 | 36387669 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 98.28.
FANTOM5 (CAGE): breadth broad, TPM avg 2.8870 / max 179.2696, expressed in 579 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73344 | 1.2868 | 228 |
| 73346 | 1.0755 | 443 |
| 73345 | 0.2455 | 110 |
| 73342 | 0.2018 | 53 |
| 73343 | 0.0774 | 41 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 98.28 | gold quality |
| triceps brachii | UBERON:0001509 | 85.04 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 84.46 | gold quality |
| vena cava | UBERON:0004087 | 84.20 | gold quality |
| gluteal muscle | UBERON:0002000 | 83.86 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 82.39 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.36 | gold quality |
| olfactory bulb | UBERON:0002264 | 80.90 | silver quality |
| skin of leg | UBERON:0001511 | 80.85 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.38 | gold quality |
| type B pancreatic cell | CL:0000169 | 79.69 | silver quality |
| skin of abdomen | UBERON:0001416 | 79.46 | gold quality |
| inferior olivary complex | UBERON:0002127 | 79.00 | gold quality |
| granulocyte | CL:0000094 | 78.61 | gold quality |
| zone of skin | UBERON:0000014 | 78.54 | gold quality |
| parotid gland | UBERON:0001831 | 78.50 | silver quality |
| cerebellar vermis | UBERON:0004720 | 78.39 | silver quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 78.16 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 78.13 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 77.69 | gold quality |
| duodenum | UBERON:0002114 | 77.50 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 77.36 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 77.24 | silver quality |
| pons | UBERON:0000988 | 76.19 | silver quality |
| pylorus | UBERON:0001166 | 75.81 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 75.74 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 75.63 | gold quality |
| tongue | UBERON:0001723 | 75.57 | silver quality |
| monocyte | CL:0000576 | 75.38 | gold quality |
| saphenous vein | UBERON:0007318 | 75.27 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.55 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
15 targets.
| Target | Regulation |
|---|---|
| BMP6 | Repression |
| CYP24A1 | Activation |
| ETS1 | Unknown |
| ETS2 | Unknown |
| ETV6 | Unknown |
| MGAT5 | Unknown |
| MMP1 | Unknown |
| MMP2 | Unknown |
| MMP3 | Unknown |
| MMP9 | Activation |
| PIM3 | Activation |
| PRL | Unknown |
| RARA | Repression |
| RNU1-1 | |
| TFEC | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1708.1 | ETV7 | Ets-related |
| MA1708.2 | ETV7 | Ets-related |
JASPAR matrix evidence (PMIDs): PMID:20517297
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
14 targeting ETV7, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-4710 | 98.61 | 65.96 | 1048 |
| HSA-MIR-4490 | 98.51 | 68.47 | 943 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-3126-5P | 96.87 | 65.83 | 912 |
| HSA-MIR-6875-5P | 96.87 | 65.49 | 958 |
Literature-anchored findings (GeneRIF, showing 12)
- Human TEL2 augments the proliferation and survival of normal mouse B cells and dramatically accelerates lymphoma development in Emu-Myc transgenic mice. (PMID:15743832)
- TEL2 plays a key role in nasopharyngeal carcinoma metastasis by directly down-regulating SERPINE1. (PMID:26335051)
- LTF (lactotransferrin/lactoferrin), and ETV7 (Ets variant 7) were mainly related with cell apoptosis and immune responses. (PMID:29279524)
- DNAJC15 as a new target gene responsible for ETV7-mediated Doxorubicin-resistance. (PMID:30025229)
- ETV7 expression is up-regulated in many types of cancer.ETV7 expression alters mTOR signaling. (PMID:30258985)
- ETV7 expression enhanced the colony-forming and self-renewal activities of primary myeloid Pten(-/-) cells. In this study we established a transgenic mouse in which we can more accurately model ETV7-associated human tumorigenesis in vivo. (PMID:30478527)
- Integrated Analysis of the ETS Family in Melanoma Reveals a Regulatory Role of ETV7 in the Immune Microenvironment. (PMID:33424867)
- ETV7 regulates breast cancer stem-like cell features by repressing IFN-response genes. (PMID:34315857)
- Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer. (PMID:34926692)
- ETV7 promotes colorectal cancer progression through upregulation of IFIT3. (PMID:38200280)
- Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway. (PMID:38282047)
- Assembly of mTORC3 Involves Binding of ETV7 to Two Separate Sequences in the mTOR Kinase Domain. (PMID:39337528)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | etv7 | ENSDARG00000089434 |
Paralogs (28): ETV1 (ENSG00000006468), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Protein
Protein identifiers
Transcription factor ETV7 — Q9Y603 (reviewed: Q9Y603)
Alternative names: ETS translocation variant 7, ETS-related protein Tel2, Tel-related Ets factor, Transcription factor Tel-2
All UniProt accessions (1): Q9Y603
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor; binds to the DNA sequence 5’-CCGGAAGT-3’. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.
Subcellular location. Nucleus.
Tissue specificity. Expressed in hematopoietic tissues.
Similarity. Belongs to the ETS family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y603-1 | B | yes |
| Q9Y603-2 | A | |
| Q9Y603-3 | C | |
| Q9Y603-4 | D | |
| Q9Y603-5 | E | |
| Q9Y603-6 | F | |
| Q9Y603-7 | G | |
| Q9Y603-8 | H |
RefSeq proteins (8): NP_001193964, NP_001193965, NP_001193966, NP_001193967, NP_001193968, NP_001193969, NP_001193970, NP_057219* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR003118 | Pointed_dom | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178, PF02198
UniProt features (19 total): splice variant 6, sequence variant 5, sequence conflict 4, chain 1, domain 1, DNA-binding region 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9HK0 | X-RAY DIFFRACTION | 1.61 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y603-F1 | 66.32 | 0.25 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 91 (showing top):
BENPORATH_ES_WITH_H3K27ME3, KEGG_DORSO_VENTRAL_AXIS_FORMATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, BLALOCK_ALZHEIMERS_DISEASE_UP, BENPORATH_ES_CORE_NINE_CORRELATED, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HATADA_METHYLATED_IN_LUNG_CANCER_UP, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, WARTERS_RESPONSE_TO_IR_SKIN, SRC_UP.V1_UP, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_DN, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), animal organ morphogenesis (GO:0009887), cell differentiation (GO:0030154), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| DNA-templated transcription | 2 |
| transcription cis-regulatory region binding | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| anatomical structure morphogenesis | 1 |
| animal organ development | 1 |
| cellular developmental process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
822 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ETV7 | KIR3DL3 | Q8N743 | 518 |
| ETV7 | TRIM45 | Q9H8W5 | 509 |
| ETV7 | KIR3DL1 | P43629 | 507 |
| ETV7 | KIR2DL3 | P43628 | 506 |
| ETV7 | TTI1 | O43156 | 487 |
| ETV7 | KIR2DL1 | P43626 | 480 |
| ETV7 | KIR2DL4 | P78400 | 474 |
| ETV7 | KIR3DL2 | P43630 | 471 |
| ETV7 | ZNF594 | Q96JF6 | 462 |
| ETV7 | STAC | Q99469 | 446 |
| ETV7 | CAPN15 | O75808 | 436 |
| ETV7 | BATF2 | Q8N1L9 | 428 |
| ETV7 | ZNF236 | Q9UL36 | 426 |
| ETV7 | SORBS1 | Q9BX66 | 419 |
| ETV7 | ZNF491 | Q8N8L2 | 410 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPTOR | MTOR | psi-mi:“MI:0914”(association) | 0.980 |
| RICTOR | MTOR | psi-mi:“MI:0914”(association) | 0.970 |
| ETV7 | ETV6 | psi-mi:“MI:0914”(association) | 0.670 |
| NFIA | ETV7 | psi-mi:“MI:0915”(physical association) | 0.470 |
| NFIB | ETV7 | psi-mi:“MI:0915”(physical association) | 0.470 |
| ETV7 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| NFIC | ETV7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCL2 | ETV7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL24 | ETV7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL23A | ETV7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IRF4 | ETV7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ETV7 | WT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ETV7 | LRPAP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| VTN | ETV7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ETV7 | AIFM1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): ETV6 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), ETV6 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), ETV7 (Two-hybrid), ETV6 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), ETV6 (Proximity Label-MS), HIVEP1 (Proximity Label-MS), NKX2-4 (Proximity Label-MS), NFIB (Proximity Label-MS), ATXN1L (Proximity Label-MS), NR2C1 (Proximity Label-MS), MNX1 (Proximity Label-MS), HIRA (Proximity Label-MS)
ESM2 similar proteins: A0JMR6, A1A4L6, A1YG61, A2T737, O70273, O75747, P01105, P10157, P11308, P13474, P14921, P15036, P15037, P15062, P18755, P19102, P26323, P27577, P41156, P41157, P41212, P57782, P81270, P97360, Q08AW4, Q15052, Q32LN0, Q3SZL0, Q3US16, Q58DT0, Q60641, Q6GPJ8, Q6P3D7, Q7ZYI3, Q8BZ05, Q8C7R7, Q8HWS3, Q8N8B7, Q8NDB2, Q8VDK3
Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
81 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 10 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1239 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:36366870:CTCA:C | donor_loss | 1.0000 |
| 6:36366871:TCA:T | donor_loss | 1.0000 |
| 6:36366872:CAC:C | donor_loss | 1.0000 |
| 6:36366873:A:AC | donor_gain | 1.0000 |
| 6:36366874:C:CA | donor_loss | 1.0000 |
| 6:36366874:C:CC | donor_gain | 1.0000 |
| 6:36366971:CGGTT:C | acceptor_gain | 1.0000 |
| 6:36366972:GGTT:G | acceptor_gain | 1.0000 |
| 6:36366972:GGTTC:G | acceptor_loss | 1.0000 |
| 6:36366973:GTT:G | acceptor_gain | 1.0000 |
| 6:36366973:GTTC:G | acceptor_loss | 1.0000 |
| 6:36366974:TT:T | acceptor_gain | 1.0000 |
| 6:36366975:TCT:T | acceptor_loss | 1.0000 |
| 6:36366976:C:CC | acceptor_gain | 1.0000 |
| 6:36366976:CTGGA:C | acceptor_loss | 1.0000 |
| 6:36366977:T:A | acceptor_loss | 1.0000 |
| 6:36368923:GCTCA:G | donor_loss | 1.0000 |
| 6:36368924:CTCAC:C | donor_loss | 1.0000 |
| 6:36368925:TCAC:T | donor_loss | 1.0000 |
| 6:36368926:CA:C | donor_loss | 1.0000 |
| 6:36368928:C:G | donor_loss | 1.0000 |
| 6:36371434:T:TA | donor_gain | 1.0000 |
| 6:36373446:T:TA | donor_gain | 1.0000 |
| 6:36373575:TCACC:T | acceptor_loss | 1.0000 |
| 6:36373577:ACCTG:A | acceptor_loss | 1.0000 |
| 6:36373579:C:CC | acceptor_gain | 1.0000 |
| 6:36366874:CCTG:C | donor_gain | 0.9900 |
| 6:36366874:CCTGA:C | donor_gain | 0.9900 |
| 6:36366984:C:CT | acceptor_gain | 0.9900 |
| 6:36368927:A:AC | donor_gain | 0.9900 |
AlphaMissense
2229 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:36366877:G:C | F302L | 0.999 |
| 6:36366877:G:T | F302L | 0.999 |
| 6:36366879:A:G | F302L | 0.999 |
| 6:36366933:G:T | R284S | 0.999 |
| 6:36366962:A:G | M274T | 0.999 |
| 6:36368929:C:A | K269N | 0.999 |
| 6:36368929:C:G | K269N | 0.999 |
| 6:36368941:C:A | W265C | 0.999 |
| 6:36368941:C:G | W265C | 0.999 |
| 6:36368943:A:G | W265R | 0.999 |
| 6:36368943:A:T | W265R | 0.999 |
| 6:36368975:C:G | R254P | 0.999 |
| 6:36368977:G:C | F253L | 0.999 |
| 6:36368977:G:T | F253L | 0.999 |
| 6:36368978:A:G | F253S | 0.999 |
| 6:36368979:A:G | F253L | 0.999 |
| 6:36369003:A:G | W245R | 0.999 |
| 6:36369003:A:T | W245R | 0.999 |
| 6:36366759:A:C | F304L | 0.998 |
| 6:36366759:A:T | F304L | 0.998 |
| 6:36366761:A:G | F304L | 0.998 |
| 6:36366878:A:G | F302S | 0.998 |
| 6:36366935:A:G | L283P | 0.998 |
| 6:36366942:G:T | R281S | 0.998 |
| 6:36366947:A:C | M279R | 0.998 |
| 6:36366953:T:A | E277V | 0.998 |
| 6:36366961:C:A | M274I | 0.998 |
| 6:36366961:C:G | M274I | 0.998 |
| 6:36366961:C:T | M274I | 0.998 |
| 6:36368939:C:T | G266E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000021951 (6:36363229 C>A,T), RS1000052162 (6:36369247 A>G), RS1000176104 (6:36367831 T>G), RS1000196483 (6:36355321 C>G,T), RS1000227509 (6:36355643 C>T), RS1000336658 (6:36370264 G>T), RS1000388563 (6:36361090 A>G), RS1000572679 (6:36365977 G>A), RS1000693856 (6:36361937 T>TG), RS1000759644 (6:36360890 A>T), RS1000889946 (6:36377505 G>A), RS1000894035 (6:36382577 A>C,G), RS1000977140 (6:36386958 G>GTAAC), RS1001029520 (6:36387194 T>C), RS1001101844 (6:36389502 T>C)
Disease associations
OMIM: gene MIM:605255 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_226 | Mean platelet volume | 1.000000e-28 |
| GCST004603_23 | Platelet count | 2.000000e-09 |
| GCST005973_9 | White blood cell count | 6.000000e-10 |
| GCST006959_167 | Rheumatoid arthritis | 2.000000e-09 |
| GCST006959_30 | Rheumatoid arthritis | 4.000000e-08 |
| GCST007400_70 | Systemic lupus erythematosus | 6.000000e-06 |
| GCST009597_231 | Multiple sclerosis | 3.000000e-19 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Smoke | decreases expression | 2 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Amiodarone | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Lipopolysaccharides | increases expression, decreases reaction | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Naled | affects expression | 1 |
| Nickel | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1FA | Abcam A-549 ETV7 KO 1 | Cancer cell line | Male |
| CVCL_B2MU | Abcam A-549 ETV7 KO 2 | Cancer cell line | Male |
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.