MIER3
gene geneOn this page
Also known as FLJ35954DKFZp686L09111DKFZp781I1119
Summary
MIER3 (MIER family member 3, HGNC:26678) is a protein-coding gene on chromosome 5q11.2, encoding Mesoderm induction early response protein 3 (Q7Z3K6). Transcriptional repressor.
Predicted to enable histone deacetylase binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of protein-containing complex. Implicated in breast cancer and lung adenocarcinoma. Biomarker of breast cancer; invasive ductal carcinoma; and lung non-small cell carcinoma.
Source: NCBI Gene 166968 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 51 total
- MANE Select transcript:
NM_001297599
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26678 |
| Approved symbol | MIER3 |
| Name | MIER family member 3 |
| Location | 5q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35954, DKFZp686L09111, DKFZp781I1119 |
| Ensembl gene | ENSG00000155545 |
| Ensembl biotype | protein_coding |
| OMIM | 620100 |
| Entrez | 166968 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000336942, ENST00000381199, ENST00000381213, ENST00000381226, ENST00000409421, ENST00000440000, ENST00000451637, ENST00000452157, ENST00000480115, ENST00000497185, ENST00000546593, ENST00000861254
RefSeq mRNA: 3 — MANE Select: NM_001297599
NM_001297598, NM_001297599, NM_152622
CCDS: CCDS3973, CCDS75248, CCDS78011
Canonical transcript exons
ENST00000381199 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001551467 | 56952094 | 56952123 |
| ENSE00001607917 | 56919603 | 56923585 |
| ENSE00003462610 | 56946926 | 56947071 |
| ENSE00003463014 | 56930664 | 56930745 |
| ENSE00003472695 | 56938883 | 56939017 |
| ENSE00003508492 | 56923915 | 56924042 |
| ENSE00003525693 | 56928767 | 56928861 |
| ENSE00003541290 | 56923691 | 56923833 |
| ENSE00003570352 | 56950628 | 56950652 |
| ENSE00003591504 | 56935428 | 56935500 |
| ENSE00003608241 | 56937578 | 56937698 |
| ENSE00003636883 | 56933247 | 56933398 |
| ENSE00003640242 | 56935666 | 56935751 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 97.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2446 / max 253.7529, expressed in 1583 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 61755 | 5.0747 | 1576 |
| 61756 | 0.1699 | 59 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 97.13 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.99 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.92 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.45 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.98 | gold quality |
| rectum | UBERON:0001052 | 91.87 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.72 | gold quality |
| duodenum | UBERON:0002114 | 89.68 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.55 | gold quality |
| secondary oocyte | CL:0000655 | 89.12 | gold quality |
| parietal pleura | UBERON:0002400 | 88.76 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.54 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.38 | gold quality |
| visceral pleura | UBERON:0002401 | 88.28 | gold quality |
| transverse colon | UBERON:0001157 | 87.71 | gold quality |
| oviduct epithelium | UBERON:0004804 | 87.36 | gold quality |
| jejunum | UBERON:0002115 | 87.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.14 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.69 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.63 | gold quality |
| endometrium | UBERON:0001295 | 86.48 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.36 | gold quality |
| ventricular zone | UBERON:0003053 | 86.31 | gold quality |
| large intestine | UBERON:0000059 | 86.19 | gold quality |
| colon | UBERON:0001155 | 85.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.56 | gold quality |
| tibia | UBERON:0000979 | 85.52 | gold quality |
| intestine | UBERON:0000160 | 85.46 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
356 targeting MIER3, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
Literature-anchored findings (GeneRIF, showing 4)
- Data suggest that the human 5q11.2 breast cancer risk allele marked by rs889312 is mammary gland autonomous, and MIER3 is a candidate breast cancer susceptibility gene. (PMID:22993404)
- Histone deacetylase assays confirmed that MIER2, but not MIER3 complexes, have associated deacetylase activity. (PMID:28046085)
- our data suggested that MIER3 plays a potential tumor suppressor role in CRC progression and may be a potentially valuable clinical prognostic marker of this disease. (PMID:28887525)
- MIER3 induces epithelial-mesenchymal transition and promotes breast cancer cell aggressiveness via forming a co-repressor complex with HDAC1/HDAC2/Snail. (PMID:34242623)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mier3a | ENSDARG00000006253 |
| danio_rerio | mier3b | ENSDARG00000021288 |
| mus_musculus | Mier3 | ENSMUSG00000032727 |
| rattus_norvegicus | Mier3 | ENSRNOG00000013121 |
| drosophila_melanogaster | CG1620 | FBGN0033183 |
| caenorhabditis_elegans | WBGENE00017352 | |
| caenorhabditis_elegans | WBGENE00020320 |
Paralogs (5): MTA3 (ENSG00000057935), MIER2 (ENSG00000105556), MTA2 (ENSG00000149480), MTA1 (ENSG00000182979), MIER1 (ENSG00000198160)
Protein
Protein identifiers
Mesoderm induction early response protein 3 — Q7Z3K6 (reviewed: Q7Z3K6)
All UniProt accessions (4): Q7Z3K6, A8MQD4, C9JXP7, H7C1J9
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor.
Subcellular location. Nucleus.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z3K6-1 | 1 | yes |
| Q7Z3K6-2 | 2 | |
| Q7Z3K6-3 | 3 | |
| Q7Z3K6-4 | 4 | |
| Q7Z3K6-5 | 5 |
RefSeq proteins (3): NP_001284527, NP_001284528, NP_689835 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000949 | ELM2_dom | Domain |
| IPR001005 | SANT/Myb | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017884 | SANT_dom | Domain |
| IPR040138 | MIER/MTA | Family |
| IPR045787 | MIER1/3_C | Domain |
Pfam: PF00249, PF01448, PF19426
UniProt features (26 total): modified residue 7, splice variant 5, sequence variant 4, compositionally biased region 4, domain 2, region of interest 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z3K6-F1 | 59.10 | 0.17 |
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 (7): 53, 114, 156, 163, 165, 168, 52
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 255 (showing top):
TGCACTT_MIR519C_MIR519B_MIR519A, AAGCCAT_MIR135A_MIR135B, GCAAGGA_MIR502, ATGCAGT_MIR217, CACCAGC_MIR138, CTATGCA_MIR153, ACTGCAG_MIR173P, FOSTER_TOLERANT_MACROPHAGE_UP, WTGAAAT_UNKNOWN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, ACTTTAT_MIR1425P, CAAGGAT_MIR362, CGTCTTA_MIR208, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, TTTGCAC_MIR19A_MIR19B
GO Biological Process (1): negative regulation of transcription by RNA polymerase II (GO:0000122)
GO Molecular Function (3): transcription corepressor activity (GO:0003714), histone deacetylase binding (GO:0042826), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), protein-containing complex (GO:0032991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| transcription coregulator activity | 1 |
| enzyme binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
872 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MIER3 | SETD9 | Q8NE22 | 604 |
| MIER3 | HDAC1 | Q13547 | 494 |
| MIER3 | BAHD1 | Q8TBE0 | 488 |
| MIER3 | HDAC2 | Q92769 | 483 |
| MIER3 | DYTN | A2CJ06 | 441 |
| MIER3 | MIER1 | Q8N108 | 405 |
| MIER3 | TULP4 | Q9NRJ4 | 374 |
| MIER3 | MAP3K1 | Q13233 | 364 |
| MIER3 | PRMT2 | P55345 | 359 |
| MIER3 | SMIM5 | Q71RC9 | 359 |
| MIER3 | ZKSCAN8 | Q15776 | 357 |
| MIER3 | CTBS | Q01459 | 357 |
| MIER3 | MRPS30 | Q9NP92 | 351 |
| MIER3 | ANAPC15 | P60006 | 345 |
| MIER3 | LSP1 | P33241 | 327 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC2 | KDM1A | psi-mi:“MI:0914”(association) | 0.890 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| H2AC4 | PPM1G | psi-mi:“MI:0914”(association) | 0.670 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| C16orf87 | CDC27 | psi-mi:“MI:0914”(association) | 0.640 |
| H2BC26 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| WIZ | RPP30 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HDAC2 | psi-mi:“MI:0914”(association) | 0.350 | |
| H2AC11 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| H2AJ | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| MIER3 | BAHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AC11 | psi-mi:“MI:0914”(association) | 0.350 | |
| H2AC4 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AZ1 | PPM1G | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (32): MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-RNA), MIER3 (Affinity Capture-MS), MIER3 (Two-hybrid), MCRS1 (Two-hybrid), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), MIER3 (Affinity Capture-MS), MIER3 (Affinity Capture-MS)
ESM2 similar proteins: A2AKB4, A4D2P6, A5PJX4, D3Z9H7, F5GYI3, G3V9M2, P04198, P07516, P18302, P49796, Q0QWG9, Q0X0E2, Q14DQ1, Q2KI80, Q3SYZ3, Q3TVI4, Q3U3N0, Q3UHF3, Q4R3R9, Q5FVJ4, Q5FVM5, Q5SYB0, Q5T7N3, Q5UEM8, Q60829, Q68CJ9, Q6J4I0, Q6P9J5, Q6UXB0, Q7Z3K6, Q80UZ0, Q8BRJ3, Q8BWU3, Q8C4S8, Q8N344, Q8NC24, Q8NE31, Q8TEY5, Q8VIP2, Q91XE9
Diamond homologs: A5PJX4, O75376, Q3U3N0, Q3UHF3, Q4KKX4, Q4R3R9, Q5REE1, Q5UAK0, Q5ZKT9, Q60974, Q7T105, Q7Z3K6, Q8N108, Q8N344, Q9WU42, Q9Y618, Q4R2Z8, Q62599, Q8K4B0, Q9H0D2, Q8BXJ2, Q96PN7, Q90WN5, Q0GGX2, Q13330, Q62901, Q80TZ9, Q9P2R6, Q18919, Q6PJG2, Q59E36, Q5FWT8, Q5ZJ40, Q6NRZ0, Q6P116, Q6PGA0, Q8C796, Q8CFE3, Q8IZ40, Q8QG78
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 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 |
|---|---|---|---|
| Packaging Of Telomere Ends | 6 | 69.3× | 2e-09 |
| NuRD complex assembly | 9 | 66.8× | 5e-13 |
| Recognition and association of DNA glycosylase with site containing an affected purine | 6 | 64.4× | 3e-09 |
| Cleavage of the damaged purine | 6 | 64.4× | 3e-09 |
| ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression | 8 | 64.1× | 6e-12 |
| Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | 7 | 61.9× | 2e-10 |
| Interaction of NuRD complexes with transcription factors | 9 | 60.1× | 6e-13 |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine | 6 | 58.2× | 4e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| heterochromatin formation | 9 | 91.9× | 4e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2370 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:56923581:CAAAG:C | acceptor_gain | 1.0000 |
| 5:56923582:AAAG:A | acceptor_gain | 1.0000 |
| 5:56923583:AAG:A | acceptor_gain | 1.0000 |
| 5:56923584:AG:A | acceptor_gain | 1.0000 |
| 5:56923586:C:CC | acceptor_gain | 1.0000 |
| 5:56923586:CTA:C | acceptor_loss | 1.0000 |
| 5:56923587:T:C | acceptor_loss | 1.0000 |
| 5:56923685:TTTTA:T | donor_loss | 1.0000 |
| 5:56923686:TTTAC:T | donor_loss | 1.0000 |
| 5:56923687:TTAC:T | donor_loss | 1.0000 |
| 5:56923688:TACCT:T | donor_loss | 1.0000 |
| 5:56923689:ACC:A | donor_loss | 1.0000 |
| 5:56923690:CCT:C | donor_loss | 1.0000 |
| 5:56923832:CC:C | acceptor_gain | 1.0000 |
| 5:56923833:CC:C | acceptor_gain | 1.0000 |
| 5:56923913:A:AC | donor_gain | 1.0000 |
| 5:56923914:C:CC | donor_gain | 1.0000 |
| 5:56923914:CGTAA:C | donor_gain | 1.0000 |
| 5:56930658:TCTTA:T | donor_loss | 1.0000 |
| 5:56930659:CTTA:C | donor_loss | 1.0000 |
| 5:56930660:TTA:T | donor_loss | 1.0000 |
| 5:56930661:TA:T | donor_loss | 1.0000 |
| 5:56930662:ACCT:A | donor_loss | 1.0000 |
| 5:56933395:TATA:T | acceptor_gain | 1.0000 |
| 5:56933396:ATA:A | acceptor_gain | 1.0000 |
| 5:56933397:TA:T | acceptor_gain | 1.0000 |
| 5:56933399:C:CC | acceptor_gain | 1.0000 |
| 5:56935422:CCTTA:C | donor_loss | 1.0000 |
| 5:56935423:CTTA:C | donor_loss | 1.0000 |
| 5:56935424:TTAC:T | donor_loss | 1.0000 |
AlphaMissense
3682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:56923992:C:A | K325N | 1.000 |
| 5:56923992:C:G | K325N | 1.000 |
| 5:56923995:C:A | W324C | 1.000 |
| 5:56923995:C:G | W324C | 1.000 |
| 5:56923997:A:G | W324R | 1.000 |
| 5:56923997:A:T | W324R | 1.000 |
| 5:56924006:A:C | Y321D | 1.000 |
| 5:56924016:A:C | C317W | 1.000 |
| 5:56924031:C:A | R312S | 1.000 |
| 5:56924031:C:G | R312S | 1.000 |
| 5:56928780:A:T | I304K | 1.000 |
| 5:56928788:A:C | F301L | 1.000 |
| 5:56928788:A:T | F301L | 1.000 |
| 5:56928789:A:G | F301S | 1.000 |
| 5:56928790:A:G | F301L | 1.000 |
| 5:56928795:T:A | K299I | 1.000 |
| 5:56928822:A:G | F290S | 1.000 |
| 5:56928845:C:A | W282C | 1.000 |
| 5:56928845:C:G | W282C | 1.000 |
| 5:56928847:A:G | W282R | 1.000 |
| 5:56928847:A:T | W282R | 1.000 |
| 5:56930732:A:G | L254P | 1.000 |
| 5:56937679:A:G | L112P | 1.000 |
| 5:56937691:A:T | I108K | 1.000 |
| 5:56923982:G:T | R329S | 0.999 |
| 5:56923988:A:G | S327P | 0.999 |
| 5:56923993:T:A | K325M | 0.999 |
| 5:56923993:T:G | K325T | 0.999 |
| 5:56923994:T:C | K325E | 0.999 |
| 5:56923996:C:G | W324S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000028732 (5:56946599 AG>A), RS1000029254 (5:56924297 G>A,C), RS1000060002 (5:56946743 G>A), RS1000094389 (5:56952271 C>A,T), RS1000103388 (5:56952774 G>A,C), RS1000215380 (5:56946372 T>C), RS1000307436 (5:56941128 A>G), RS1000355473 (5:56940420 A>T), RS1000388445 (5:56940725 G>C,T), RS1000389311 (5:56933010 T>C), RS1000516037 (5:56947722 T>G), RS1000588712 (5:56946092 A>G), RS1000699130 (5:56942008 G>A,T), RS1000704966 (5:56927202 G>A), RS1000729749 (5:56942405 T>A)
Disease associations
OMIM: gene MIM:620100 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_55 | Waist-to-hip ratio adjusted for BMI | 9.000000e-06 |
| GCST005957_9 | Waist-to-hip ratio adjusted for BMI (age <50) | 2.000000e-07 |
| GCST005962_24 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 3.000000e-08 |
| GCST008151_101 | Waist circumference | 2.000000e-06 |
| GCST008160_103 | Waist circumference | 2.000000e-06 |
| GCST009665_14 | Breast cancer | 8.000000e-07 |
| GCST010701_111 | Cortical surface area (MOSTest) | 8.000000e-12 |
| GCST010702_47 | Subcortical volume (MOSTest) | 6.000000e-10 |
| GCST010703_329 | Brain morphology (MOSTest) | 2.000000e-10 |
| GCST011154_4 | Fasting plasma glucose | 1.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 7 |
| trichostatin A | decreases expression, affects cotreatment | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Tobacco Smoke Pollution | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, affects expression, increases abundance | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, affects expression, increases abundance | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Acrolein | affects cotreatment, affects expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, affects expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases abundance, affects cotreatment, affects expression | 1 |
| Thimerosal | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triiodothyronine | decreases expression | 1 |
| Cyclosporine | increases methylation | 1 |
| Acrylamide | increases expression | 1 |
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.