TFEC
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Also known as TCFECTFECLbHLHe34
Summary
TFEC (transcription factor EC, HGNC:11754) is a protein-coding gene on chromosome 7q31.2, encoding Transcription factor EC (O14948). Transcriptional regulator that acts as a repressor or an activator.
This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 22797 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_012252
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11754 |
| Approved symbol | TFEC |
| Name | transcription factor EC |
| Location | 7q31.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TCFEC, TFECL, bHLHe34 |
| Ensembl gene | ENSG00000105967 |
| Ensembl biotype | protein_coding |
| OMIM | 604732 |
| Entrez | 22797 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000265440, ENST00000320239, ENST00000393485, ENST00000457268, ENST00000462828, ENST00000465322, ENST00000474337, ENST00000484212, ENST00000497829, ENST00000871198, ENST00000871199, ENST00000871200, ENST00000952248
RefSeq mRNA: 3 — MANE Select: NM_012252
NM_001018058, NM_001244583, NM_012252
CCDS: CCDS34738, CCDS5762, CCDS59076
Canonical transcript exons
ENST00000265440 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000881885 | 115974170 | 115974256 |
| ENSE00001015841 | 116030633 | 116030763 |
| ENSE00001015842 | 115956679 | 115956793 |
| ENSE00001015845 | 115950874 | 115950949 |
| ENSE00001015847 | 115954586 | 115954642 |
| ENSE00003564412 | 115984262 | 115984513 |
| ENSE00003659572 | 115941893 | 115942040 |
| ENSE00003847030 | 115935152 | 115940931 |
Expression profiles
Bgee: expression breadth ubiquitous, 200 present calls, max score 95.47.
FANTOM5 (CAGE): breadth broad, TPM avg 14.5948 / max 885.0494, expressed in 473 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85802 | 13.4467 | 446 |
| 85801 | 0.6061 | 173 |
| 85809 | 0.2261 | 101 |
| 85808 | 0.1140 | 57 |
| 85798 | 0.1076 | 15 |
| 85797 | 0.0943 | 17 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 95.47 | gold quality |
| mononuclear cell | CL:0000842 | 95.11 | gold quality |
| leukocyte | CL:0000738 | 94.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.10 | gold quality |
| granulocyte | CL:0000094 | 85.45 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.25 | gold quality |
| nephron tubule | UBERON:0001231 | 83.34 | gold quality |
| bone marrow cell | CL:0002092 | 82.98 | gold quality |
| spleen | UBERON:0002106 | 80.76 | gold quality |
| lymph node | UBERON:0000029 | 80.70 | gold quality |
| bone marrow | UBERON:0002371 | 80.14 | gold quality |
| jejunal mucosa | UBERON:0000399 | 79.58 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.14 | gold quality |
| upper lobe of lung | UBERON:0008948 | 79.05 | gold quality |
| right lung | UBERON:0002167 | 78.81 | gold quality |
| caecum | UBERON:0001153 | 77.49 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.18 | gold quality |
| kidney epithelium | UBERON:0004819 | 76.87 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 76.31 | gold quality |
| gall bladder | UBERON:0002110 | 74.86 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 74.80 | gold quality |
| rectum | UBERON:0001052 | 74.67 | gold quality |
| blood | UBERON:0000178 | 74.64 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 74.13 | gold quality |
| small intestine | UBERON:0002108 | 73.97 | gold quality |
| lung | UBERON:0002048 | 73.85 | gold quality |
| renal glomerulus | UBERON:0000074 | 73.74 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 73.70 | gold quality |
| kidney | UBERON:0002113 | 73.63 | gold quality |
| cortex of kidney | UBERON:0001225 | 73.54 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.92 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| ACP5 | |
| CD40 | |
| HMOX1 | Unknown |
| MYH9 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0871.1 | TFEC | bHLH-ZIP |
| MA0871.2 | TFEC | bHLH-ZIP |
| MA0871.3 | TFEC | bHLH-ZIP |
JASPAR matrix evidence (PMIDs): PMID:15186484
Upstream regulators (CollecTRI, top): ETS2, ETV7, PAX6, SPI1
miRNA regulators (miRDB)
215 targeting TFEC, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
Literature-anchored findings (GeneRIF, showing 1)
- Two alternatively spliced TFEC isoforms have been found to be sequence-specific transcriptional activators of the nonmuscle myosin II heavy chain-A gene in transfected cells. (PMID:11467950)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tfec | ENSDARG00000098745 |
| mus_musculus | Tfec | ENSMUSG00000029553 |
| rattus_norvegicus | Tfec | ENSRNOG00000061595 |
| drosophila_melanogaster | Mitf | FBGN0263112 |
| caenorhabditis_elegans | WBGENE00020930 |
Paralogs (3): TFE3 (ENSG00000068323), TFEB (ENSG00000112561), MITF (ENSG00000187098)
Protein
Protein identifiers
Transcription factor EC — O14948 (reviewed: O14948)
Alternative names: Class E basic helix-loop-helix protein 34, Transcription factor EC-like
All UniProt accessions (2): O14948, B7Z757
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter. Collaborates with MITF in target gene activation. Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence. Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer. Binds DNA in a homo- or heterodimeric form.
Subunit / interactions. Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF. Interacts with MITF.
Subcellular location. Nucleus.
Tissue specificity. Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon.
Similarity. Belongs to the MiT/TFE family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14948-1 | 1, TFEC-l, TFECL | yes |
| O14948-2 | 2, TFEC-s | |
| O14948-3 | 3 | |
| O14948-4 | 4, TFEC-C |
RefSeq proteins (3): NP_001018068, NP_001231512, NP_036384* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR021802 | MiT/TFE_C | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00010, PF11851
UniProt features (14 total): splice variant 5, sequence variant 3, region of interest 3, chain 1, domain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14948-F1 | 63.79 | 0.30 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9856649 | Transcriptional and post-translational regulation of MITF-M expression and activity |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-9730414 | MITF-M-regulated melanocyte development |
MSigDB gene sets: 286 (showing top):
BROWNE_HCMV_INFECTION_4HR_UP, TAATAAT_MIR126, WALLACE_PROSTATE_CANCER_RACE_UP, LANG_MYB_FAMILY_TARGETS, HNF1_Q6, FOXD3_01, BLALOCK_ALZHEIMERS_DISEASE_UP, CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP, ACATTCC_MIR1_MIR206, GGGNNTTTCC_NFKB_Q6_01, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_CELLULAR_RESPONSE_TO_HEAT, GATA1_04, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, NRF2_Q4
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), cellular response to heat (GO:0034605), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| MITF-M-regulated melanocyte development | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 4 |
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| cellular anatomical structure | 3 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| response to heat | 1 |
| cellular response to stress | 1 |
| positive regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription repressor activity | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| protein binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1446 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TFEC | CTSK | P43235 | 720 |
| TFEC | TFE3 | P19532 | 622 |
| TFEC | TYR | P14679 | 579 |
| TFEC | MITF | O75030 | 559 |
| TFEC | DCT | P40126 | 555 |
| TFEC | HMOX1 | P09601 | 533 |
| TFEC | ASPSCR1 | Q9BZE9 | 525 |
| TFEC | PRCC | Q92733 | 513 |
| TFEC | GPR143 | P51810 | 507 |
| TFEC | TYRP1 | P17643 | 487 |
| TFEC | SOX10 | P56693 | 487 |
| TFEC | GPNMB | Q14956 | 454 |
| TFEC | PAX3 | P23760 | 433 |
| TFEC | DIAPH1 | O60610 | 429 |
| TFEC | MAFB | Q9Y5Q3 | 406 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TFEC | NAPB | psi-mi:“MI:0915”(physical association) | 0.560 |
| DEFB127 | TFEC | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAPB | TFEC | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFEC | DEFB127 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFEC | psi-mi:“MI:0915”(physical association) | 0.370 | |
| XCL1 | TFEC | psi-mi:“MI:0915”(physical association) | 0.370 |
| DCK | TFEC | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPA1 | TFEC | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZMAT2 | TFEC | psi-mi:“MI:0915”(physical association) | 0.370 |
| TFEB | TFEC | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): NAPB (Two-hybrid), DEFB127 (Two-hybrid), TFEC (Affinity Capture-MS), TFEC (Proximity Label-MS), SMCO4 (Two-hybrid), LPAR3 (Two-hybrid), TFEC (Two-hybrid), TET2 (Affinity Capture-Western), TFEC (Positive Genetic), TFEC (Reconstituted Complex), TFE3 (Reconstituted Complex), TFEC (Affinity Capture-MS), TFEC (Affinity Capture-Western), TFEC (Affinity Capture-RNA), TFEC (Two-hybrid)
ESM2 similar proteins: A0A0A7HJC7, A0A0B2XG51, A0A0F0IP79, A1DG01, A2R6G8, A2T713, A2T7L8, B0XYJ1, B2AR36, B2W978, B8NLU5, B8NNN3, C0STD9, C7YM38, E9EMI7, E9EPV1, E9ES99, E9RD40, G4N2B2, G5ECU7, I1S0E2, I1S4T3, K9FWK0, O14948, O16850, O74252, P22022, P38165, Q00096, Q01870, Q09926, Q0U7C8, Q152V3, Q1XGE2, Q2GSA4, Q2U616, Q2UMT9, Q2UUM2, Q4W9W8, Q4WEY8
Diamond homologs: A0A286LEZ9, A2T713, A2T7L8, A4IFU7, O02818, O14948, O75030, O88368, P0DPB0, P17106, P19484, P19532, P22415, P49379, Q05B92, Q07957, Q08874, Q10186, Q5A1E3, Q5XFQ6, Q61069, Q63302, Q64092, Q6XBT4, Q9R210, Q9WTW4, H2KZZ2, P38165, A3KNA7, O43019, O97676, P36956, P56720, Q12772, Q3T1I5, Q3U1N2, Q4WIN1, Q59RL7, Q60416, Q60429
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TFEC | “up-regulates quantity by expression” | MYH9 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 1 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1571 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:115941920:AG:A | donor_gain | 1.0000 |
| 7:115950872:A:AC | donor_gain | 1.0000 |
| 7:115950873:C:CC | donor_gain | 1.0000 |
| 7:115954584:A:AC | donor_gain | 1.0000 |
| 7:115954585:C:CC | donor_gain | 1.0000 |
| 7:115954648:C:CT | acceptor_gain | 1.0000 |
| 7:115956673:CATTA:C | donor_loss | 1.0000 |
| 7:115956674:ATTAC:A | donor_loss | 1.0000 |
| 7:115956675:TTACC:T | donor_loss | 1.0000 |
| 7:115956676:TAC:T | donor_loss | 1.0000 |
| 7:115956677:AC:A | donor_loss | 1.0000 |
| 7:115956678:C:A | donor_loss | 1.0000 |
| 7:115956789:GATAA:G | acceptor_gain | 1.0000 |
| 7:115956790:ATAA:A | acceptor_gain | 1.0000 |
| 7:115956791:TAA:T | acceptor_gain | 1.0000 |
| 7:115956792:AA:A | acceptor_gain | 1.0000 |
| 7:115956794:C:CC | acceptor_gain | 1.0000 |
| 7:115956794:CTT:C | acceptor_loss | 1.0000 |
| 7:115956795:T:C | acceptor_gain | 1.0000 |
| 7:115956795:T:TC | acceptor_gain | 1.0000 |
| 7:115974169:CTGTT:C | donor_gain | 1.0000 |
| 7:115942041:C:CC | acceptor_gain | 0.9900 |
| 7:115950873:CGGAT:C | donor_gain | 0.9900 |
| 7:115950950:C:CC | acceptor_gain | 0.9900 |
| 7:115954643:C:CC | acceptor_gain | 0.9900 |
| 7:115954649:A:T | acceptor_gain | 0.9900 |
| 7:115974168:A:AC | donor_gain | 0.9900 |
| 7:115974169:C:CC | donor_gain | 0.9900 |
| 7:115984261:CATG:C | donor_gain | 0.9900 |
| 7:115984264:G:A | donor_gain | 0.9900 |
AlphaMissense
2278 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:115942011:A:G | L182P | 1.000 |
| 7:115942022:T:A | K178N | 1.000 |
| 7:115942022:T:G | K178N | 1.000 |
| 7:115942023:T:A | K178I | 1.000 |
| 7:115942024:T:G | K178Q | 1.000 |
| 7:115950936:T:A | R151S | 1.000 |
| 7:115950936:T:G | R151S | 1.000 |
| 7:115950937:C:G | R151T | 1.000 |
| 7:115941981:A:G | L192P | 0.999 |
| 7:115942011:A:T | L182Q | 0.999 |
| 7:115942024:T:C | K178E | 0.999 |
| 7:115950913:A:C | I159S | 0.999 |
| 7:115950913:A:G | I159T | 0.999 |
| 7:115950925:A:C | I155S | 0.999 |
| 7:115950933:C:A | R152S | 0.999 |
| 7:115950933:C:G | R152S | 0.999 |
| 7:115950934:C:A | R152M | 0.999 |
| 7:115950942:T:A | R149S | 0.999 |
| 7:115950942:T:G | R149S | 0.999 |
| 7:115950945:T:A | E148D | 0.999 |
| 7:115950945:T:G | E148D | 0.999 |
| 7:115954595:G:C | H144D | 0.999 |
| 7:115940927:A:G | L223P | 0.998 |
| 7:115942006:C:G | A184P | 0.998 |
| 7:115942021:C:G | G179R | 0.998 |
| 7:115942021:C:T | G179R | 0.998 |
| 7:115950904:A:G | L162P | 0.998 |
| 7:115950913:A:T | I159N | 0.998 |
| 7:115950916:C:G | R158P | 0.998 |
| 7:115950921:A:C | N156K | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000019732 (7:116029819 G>C), RS1000025190 (7:116054526 G>A), RS1000043038 (7:116006142 G>A), RS1000051500 (7:116132082 C>A,T), RS1000051964 (7:116088215 A>G,T), RS1000074305 (7:116006239 T>C), RS1000097322 (7:115941531 A>G), RS1000100630 (7:116047476 C>A), RS1000102348 (7:115965023 A>G), RS1000102955 (7:115937124 T>C), RS1000120670 (7:116022772 A>G), RS1000131745 (7:115983364 A>T), RS1000147327 (7:116102606 T>A,C), RS1000176836 (7:116018695 G>A), RS1000178840 (7:116102855 C>T)
Disease associations
OMIM: gene MIM:604732 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003995_22 | Tonsillectomy | 8.000000e-10 |
| GCST004904_58 | Body mass index | 9.000000e-09 |
| GCST005014_127 | Tonsillectomy | 8.000000e-10 |
| GCST005170_3 | Intraocular pressure | 2.000000e-20 |
| GCST005580_287 | Intraocular pressure | 1.000000e-09 |
| GCST006412_69 | Intraocular pressure | 1.000000e-16 |
| GCST007325_203 | General risk tolerance (MTAG) | 2.000000e-08 |
| GCST007325_205 | General risk tolerance (MTAG) | 2.000000e-08 |
| GCST007325_250 | General risk tolerance (MTAG) | 2.000000e-09 |
| GCST007325_47 | General risk tolerance (MTAG) | 5.000000e-08 |
| GCST007326_75 | Number of sexual partners | 1.000000e-08 |
| GCST007576_200 | Chronotype | 8.000000e-09 |
| GCST008163_232 | Height | 5.000000e-07 |
| GCST010916_15 | Proportion of activated microglia (inferior temporal cortex) | 7.000000e-07 |
| GCST012292_12 | Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction | 8.000000e-06 |
| GCST012297_3 | Schizophrenia, bipolar disorder or major depressive disorder | 9.000000e-06 |
| GCST012298_11 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 6.000000e-06 |
| GCST012489_140 | Heel bone mineral density x serum urate levels interaction | 2.000000e-08 |
| GCST90002400_47 | Plateletcrit | 4.000000e-10 |
| GCST90002401_465 | Platelet distribution width | 3.000000e-09 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0004340 | body mass index |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0004952 | disease recurrence |
| EFO:0008343 | sex interaction measurement |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression, increases expression | 3 |
| Ethyl Methanesulfonate | decreases expression, increases expression | 2 |
| Methyl Methanesulfonate | decreases expression, increases expression | 2 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| o,p’-DDT | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol S | increases methylation | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Amphotericin B | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Etoposide | decreases expression | 1 |
| Gold | decreases expression | 1 |
| Hydroxyurea | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Rifampin | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Mitomycin | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
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): major depressive disorder