TEF
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Also known as KIAA1655
Summary
TEF (TEF transcription factor, PAR bZIP family member, HGNC:11722) is a protein-coding gene on chromosome 22q13.2, encoding Thyrotroph embryonic factor (Q10587). Transcription factor that binds to and transactivates the TSHB promoter.
This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 7008 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 21 total
- Transcription factor: yes — 22 downstream targets (CollecTRI)
- MANE Select transcript:
NM_003216
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11722 |
| Approved symbol | TEF |
| Name | TEF transcription factor, PAR bZIP family member |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1655 |
| Ensembl gene | ENSG00000167074 |
| Ensembl biotype | protein_coding |
| OMIM | 188595 |
| Entrez | 7008 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000266304, ENST00000406644, ENST00000413942, ENST00000958295
RefSeq mRNA: 2 — MANE Select: NM_003216
NM_001145398, NM_003216
CCDS: CCDS14014, CCDS46716
Canonical transcript exons
ENST00000266304 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655754 | 41387351 | 41387668 |
| ENSE00000655762 | 41394096 | 41394316 |
| ENSE00001860832 | 41381942 | 41382201 |
| ENSE00001939875 | 41395745 | 41399326 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 95.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6182 / max 218.6348, expressed in 1722 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192472 | 11.3004 | 1716 |
| 192470 | 1.8938 | 374 |
| 192467 | 0.1853 | 54 |
| 192468 | 0.0837 | 45 |
| 192469 | 0.0787 | 43 |
| 192471 | 0.0763 | 40 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 95.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.11 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.75 | gold quality |
| cerebellum | UBERON:0002037 | 93.69 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.61 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 92.83 | gold quality |
| parietal lobe | UBERON:0001872 | 92.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 92.60 | gold quality |
| parotid gland | UBERON:0001831 | 92.56 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.44 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.19 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.61 | gold quality |
| putamen | UBERON:0001874 | 91.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.46 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.94 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.78 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.50 | gold quality |
| temporal lobe | UBERON:0001871 | 90.41 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.19 | gold quality |
| amygdala | UBERON:0001876 | 90.17 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.08 | gold quality |
| pons | UBERON:0000988 | 89.98 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.97 | gold quality |
| frontal cortex | UBERON:0001870 | 89.90 | gold quality |
| telencephalon | UBERON:0001893 | 89.90 | gold quality |
| frontal lobe | UBERON:0016525 | 89.87 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.86 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.81 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.77 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.51 |
| E-GEOD-98556 | no | 75.61 |
| E-MTAB-7249 | no | 15.62 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
22 targets.
| Target | Regulation |
|---|---|
| ACTA1 | |
| ADAM2 | |
| ALB | Activation |
| BCL2 | |
| CAD | |
| CD74 | |
| CHRNB1 | |
| CXCL8 | |
| DBP | Unknown |
| EIF3K | |
| HEXIM1 | |
| HSPA4 | |
| LMO2 | Activation |
| MYH11 | |
| MYH13 | |
| MYH6 | |
| MYH7 | |
| MYLK | |
| NPPB | Unknown |
| PER2 | |
| TNF | |
| TSHB |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0843.1 | TEF | CEBP-related |
| MA0843.2 | TEF | CEBP-related |
JASPAR matrix evidence (PMIDs): PMID:25215497
miRNA regulators (miRDB)
159 targeting TEF, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| 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-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| 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 |
Literature-anchored findings (GeneRIF, showing 10)
- TEF-expressing cells accumulated in G(0)/G(1) phase without undergoing apoptosis. (PMID:15665112)
- evidence of TEF regulation through a miR-125b-mediated pathway (PMID:21347262)
- the TT genotype in Tef rs738499 is associated with sleep disturbances in Parkinson disease. (PMID:22257907)
- The polymorphism of Tef rs738499 is associated with depression symptoms in parkinson disease. (PMID:23138696)
- findings show the polymorphisms of Cry1 rs2287161 and Tef rs738499 are associated to major depressive disorder in the Chinese population (PMID:24581835)
- Resequencing three candidate genes (HOMER1, SLC6A4, and TEF) discovers seven potentially deleterious variants susceptibility to major depressive disorder and suicide attempts in Chinese. (PMID:27964944)
- TEF is downregulated in bladder cancer and correlates with poor patient survival. (PMID:30515906)
- Characterization of rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identified a novel TCF3/TEF gene fusion. (PMID:31575852)
- Evaluation of ASPM and TEF Gene Expressions as Potential Biomarkers for Bladder Cancer. (PMID:32274607)
- Thyrotroph embryonic factor polymorphism predicts faster progression of Parkinson’s disease in a longitudinal study. (PMID:33834695)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tefa | ENSDARG00000039117 |
| danio_rerio | tefb | ENSDARG00000098103 |
| danio_rerio | ENSDARG00000111269 | |
| mus_musculus | Tef | ENSMUSG00000022389 |
| rattus_norvegicus | Tef | ENSRNOG00000019383 |
| drosophila_melanogaster | Pdp1 | FBGN0016694 |
| drosophila_melanogaster | CG7786 | FBGN0034096 |
| caenorhabditis_elegans | WBGENE00011130 | |
| caenorhabditis_elegans | WBGENE00017535 |
Paralogs (2): DBP (ENSG00000105516), HLF (ENSG00000108924)
Protein
Protein identifiers
Thyrotroph embryonic factor — Q10587 (reviewed: Q10587)
All UniProt accessions (3): B4DIH3, Q10587, H0Y797
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5’-[TC][AG][AG]TTA[TC][AG]-3'.
Subunit / interactions. Binds DNA as a homodimer or a heterodimer. Can form a heterodimer with DBP.
Subcellular location. Nucleus.
Induction. Accumulates according to a robust circadian rhythm.
Similarity. Belongs to the bZIP family. PAR subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q10587-1 | 1 | yes |
| Q10587-2 | 2 |
RefSeq proteins (2): NP_001138870, NP_003207* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004827 | bZIP | Domain |
| IPR040223 | PAR_bZIP | Family |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF07716
UniProt features (12 total): region of interest 4, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, helix 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4U5T | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q10587-F1 | 74.46 | 0.42 |
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): 32
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 203 (showing top):
TGCGCANK_UNKNOWN, GCANCTGNY_MYOD_Q6, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, AREB6_01, MEF2_02, AAAYRNCTG_UNKNOWN, USF_C, CAGCTG_AP4_Q5, SP1_Q2_01, JOHANSSON_BRAIN_CANCER_EARLY_VS_LATE_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, BRN2_01, USF_01, PPAR_DR1_Q2, HIF1_Q3
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944), rhythmic process (GO:0048511), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), double-stranded DNA binding (GO:0003690), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| positive regulation of DNA-templated transcription | 1 |
| biological_process | 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 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
986 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TEF | PDXK | O00764 | 832 |
| TEF | TSHB | P01222 | 752 |
| TEF | BMAL1 | O00327 | 737 |
| TEF | NR1D1 | P20393 | 729 |
| TEF | PER3 | P56645 | 713 |
| TEF | PER2 | O15055 | 712 |
| TEF | CRY1 | Q16526 | 703 |
| TEF | NR1D2 | Q14995 | 688 |
| TEF | CRY2 | Q49AN0 | 662 |
| TEF | NPAS2 | Q99743 | 645 |
| TEF | CLOCK | O15516 | 625 |
| TEF | CIART | Q8N365 | 566 |
| TEF | SRPX2 | O60687 | 549 |
| TEF | TLE6 | Q9H808 | 543 |
| TEF | TLE2 | Q04725 | 541 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NFE2L2 | TEF | psi-mi:“MI:0915”(physical association) | 0.630 |
| MRPL28 | TEF | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEF | MRPL28 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEF | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEF | psi-mi:“MI:0915”(physical association) | 0.400 | |
| rpoB | TEF | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | nusA | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | manB | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | bipA | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | psi-mi:“MI:0915”(physical association) | 0.000 | |
| TEF | sasP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | rpoB | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | argS1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| parE | TEF | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | nadC | psi-mi:“MI:0915”(physical association) | 0.000 |
| flaV | TEF | psi-mi:“MI:0915”(physical association) | 0.000 |
| mtfA | TEF | psi-mi:“MI:0915”(physical association) | 0.000 |
| ubiG | TEF | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | glnG | psi-mi:“MI:0915”(physical association) | 0.000 |
| TEF | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): MRPL28 (Two-hybrid), TEF (Affinity Capture-RNA), TEF (Two-hybrid), TEF (Affinity Capture-Western), TEF (FRET), TEF (Affinity Capture-MS), TEF (Affinity Capture-MS)
ESM2 similar proteins: A6ZJ71, B8NNN3, G5ECU7, G5EDE9, G5EDW7, G5EFT5, G5EGF4, H2L0N3, O02039, O17862, P22293, P22980, P27610, P30651, P34522, P40650, P41224, P45972, P46582, P48987, P97516, Q09664, Q10587, Q16534, Q18171, Q18221, Q18412, Q18909, Q20435, Q22812, Q23272, Q2UMT9, Q3BJS3, Q60ZS1, Q64709, Q66JF1, Q6CQB7, Q6FJQ9, Q6FU75, Q8BW74
Diamond homologs: A0A5F9ZHS7, O08750, P16443, P41224, P97516, Q08D88, Q10586, Q10587, Q16534, Q16649, Q32PF6, Q5FW38, Q60925, Q64709, Q66J36, Q68EL6, Q6IMZ0, Q8BW74, Q90Z72, Q92172, Q94126, Q9JLC6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TEF | unknown | NPPB | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
634 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:41387583:G:T | donor_gain | 1.0000 |
| 22:41394091:TTTA:T | acceptor_loss | 1.0000 |
| 22:41394092:TTAG:T | acceptor_loss | 1.0000 |
| 22:41394094:A:AG | acceptor_gain | 1.0000 |
| 22:41394094:A:G | acceptor_loss | 1.0000 |
| 22:41394095:G:GA | acceptor_gain | 1.0000 |
| 22:41394095:GA:G | acceptor_gain | 1.0000 |
| 22:41394095:GAA:G | acceptor_gain | 1.0000 |
| 22:41394095:GAAT:G | acceptor_gain | 1.0000 |
| 22:41394095:GAATC:G | acceptor_gain | 1.0000 |
| 22:41394313:GAAG:G | donor_gain | 1.0000 |
| 22:41394315:AG:A | donor_loss | 1.0000 |
| 22:41394316:GGTAA:G | donor_loss | 1.0000 |
| 22:41394317:GTA:G | donor_loss | 1.0000 |
| 22:41395740:CACA:C | acceptor_loss | 1.0000 |
| 22:41395742:CA:C | acceptor_loss | 1.0000 |
| 22:41395743:A:AC | acceptor_loss | 1.0000 |
| 22:41395743:A:AG | acceptor_gain | 1.0000 |
| 22:41395743:AG:A | acceptor_gain | 1.0000 |
| 22:41395743:AGGAT:A | acceptor_gain | 1.0000 |
| 22:41395744:G:GG | acceptor_gain | 1.0000 |
| 22:41395744:GG:G | acceptor_gain | 1.0000 |
| 22:41395744:GGA:G | acceptor_gain | 1.0000 |
| 22:41395744:GGAT:G | acceptor_gain | 1.0000 |
| 22:41395744:GGATG:G | acceptor_gain | 1.0000 |
| 22:41395901:G:GT | donor_gain | 1.0000 |
| 22:41387497:GA:G | donor_gain | 0.9900 |
| 22:41387583:G:GT | donor_gain | 0.9900 |
| 22:41387664:CACAG:C | donor_loss | 0.9900 |
| 22:41387665:ACAGG:A | donor_loss | 0.9900 |
AlphaMissense
1968 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:41387440:T:A | W83R | 1.000 |
| 22:41387440:T:C | W83R | 1.000 |
| 22:41387442:G:C | W83C | 1.000 |
| 22:41387442:G:T | W83C | 1.000 |
| 22:41387495:T:C | L101P | 1.000 |
| 22:41387503:T:C | F104L | 1.000 |
| 22:41387504:T:C | F104S | 1.000 |
| 22:41387504:T:G | F104C | 1.000 |
| 22:41387505:C:A | F104L | 1.000 |
| 22:41387505:C:G | F104L | 1.000 |
| 22:41387507:T:C | L105P | 1.000 |
| 22:41394221:T:C | F201L | 1.000 |
| 22:41394222:T:C | F201S | 1.000 |
| 22:41394222:T:G | F201C | 1.000 |
| 22:41394223:C:A | F201L | 1.000 |
| 22:41394223:C:G | F201L | 1.000 |
| 22:41394228:C:A | P203H | 1.000 |
| 22:41394228:C:G | P203R | 1.000 |
| 22:41394242:T:C | F208L | 1.000 |
| 22:41394243:T:C | F208S | 1.000 |
| 22:41394243:T:G | F208C | 1.000 |
| 22:41394244:T:A | F208L | 1.000 |
| 22:41394244:T:G | F208L | 1.000 |
| 22:41394258:T:C | L213P | 1.000 |
| 22:41394263:C:T | P215S | 1.000 |
| 22:41394278:A:G | K220E | 1.000 |
| 22:41394280:A:C | K220N | 1.000 |
| 22:41394280:A:T | K220N | 1.000 |
| 22:41394281:A:G | K221E | 1.000 |
| 22:41394283:G:C | K221N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000049537 (22:41389638 T>G), RS1000124450 (22:41370210 GT>G), RS1000168429 (22:41366400 C>A,G,T), RS1000275310 (22:41370096 CTTTCT>C), RS1000343381 (22:41384157 T>A), RS1000402728 (22:41368916 C>T), RS1000452973 (22:41394023 T>C), RS1000460870 (22:41374831 G>A), RS1000524316 (22:41388331 T>C), RS1000635049 (22:41373309 A>C,G), RS1000639352 (22:41374177 G>A), RS1000748334 (22:41375137 G>A), RS1000786851 (22:41399229 G>A), RS1000820751 (22:41388402 A>C), RS1000830588 (22:41388671 A>C,G)
Disease associations
OMIM: gene MIM:188595 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003043_197 | Inflammatory bowel disease | 3.000000e-06 |
| GCST003044_35 | Crohn’s disease | 2.000000e-10 |
| GCST004521_55 | Autism spectrum disorder or schizophrenia | 9.000000e-09 |
| GCST004632_82 | Lymphocyte percentage of white cells | 2.000000e-09 |
| GCST004785_25 | Vitiligo | 3.000000e-15 |
| GCST005232_52 | Neuroticism | 3.000000e-18 |
| GCST005531_74 | Multiple sclerosis | 1.000000e-06 |
| GCST008529_37 | Tea consumption | 1.000000e-07 |
| GCST010002_83 | Refractive error | 2.000000e-27 |
| GCST010133_13 | Lamb consumption | 3.000000e-08 |
| GCST010143_2 | Meat-related diet | 4.000000e-08 |
| GCST010769_1 | Asthma (time to event) | 2.000000e-08 |
| GCST011124_12 | Caffeine consumption from tea | 2.000000e-10 |
| GCST90002389_490 | Lymphocyte percentage of white cells | 3.000000e-27 |
| GCST90002396_93 | Mean reticulocyte volume | 7.000000e-11 |
| GCST90002399_104 | Neutrophil percentage of white cells | 2.000000e-23 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007660 | neuroticism measurement |
| EFO:0010091 | tea consumption measurement |
| EFO:0008111 | diet measurement |
| EFO:0004918 | age at diagnosis |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| fipronil | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| clothianidin | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7G1 | SEES3-1V human TEF, clone1 | Embryonic stem cell | Male |
| CVCL_A7G2 | SEES3-1V human TEF, clone2 | Embryonic stem cell | Male |
| CVCL_A7G3 | SEES3-1V human TEF, clone3 | Embryonic stem cell | Male |
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): Crohn disease, inflammatory bowel disease, multiple sclerosis, vitiligo