MIXL1
gene geneOn this page
Also known as MILD1MIXL
Summary
MIXL1 (Mix paired-like homeobox, HGNC:13363) is a protein-coding gene on chromosome 1q42.12, encoding Homeobox protein MIXL1 (Q9H2W2). Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation.
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including endodermal cell differentiation; negative regulation of hematopoietic progenitor cell differentiation; and positive regulation of mesoderm development. Predicted to act upstream of or within cell migration involved in gastrulation and hemopoiesis. Located in nucleoplasm.
Source: NCBI Gene 83881 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_031944
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13363 |
| Approved symbol | MIXL1 |
| Name | Mix paired-like homeobox |
| Location | 1q42.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MILD1, MIXL |
| Ensembl gene | ENSG00000185155 |
| Ensembl biotype | protein_coding |
| OMIM | 609852 |
| Entrez | 83881 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000366810, ENST00000542034, ENST00000557734
RefSeq mRNA: 2 — MANE Select: NM_031944
NM_001282402, NM_031944
CCDS: CCDS1552, CCDS60432
Canonical transcript exons
ENST00000366810 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002485896 | 226225507 | 226227060 |
| ENSE00003902013 | 226223664 | 226224074 |
Expression profiles
Bgee: expression breadth broad, 100 present calls, max score 88.12.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.7337 / max 189.8406, expressed in 156 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8864 | 1.4639 | 94 |
| 8863 | 0.0982 | 46 |
| 8865 | 0.0873 | 46 |
| 8866 | 0.0843 | 37 |
Top tissues by expression
217 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 88.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.91 | gold quality |
| secondary oocyte | CL:0000655 | 80.74 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.84 | silver quality |
| bone marrow cell | CL:0002092 | 76.44 | gold quality |
| lymph node | UBERON:0000029 | 67.51 | gold quality |
| gingival epithelium | UBERON:0001949 | 67.46 | gold quality |
| gingiva | UBERON:0001828 | 64.02 | gold quality |
| vermiform appendix | UBERON:0001154 | 62.27 | gold quality |
| parotid gland | UBERON:0001831 | 61.29 | gold quality |
| caecum | UBERON:0001153 | 60.01 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 59.88 | gold quality |
| tonsil | UBERON:0002372 | 59.09 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 58.75 | gold quality |
| biceps brachii | UBERON:0001507 | 58.42 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 57.88 | gold quality |
| colonic epithelium | UBERON:0000397 | 57.87 | silver quality |
| upper leg skin | UBERON:0004262 | 57.80 | silver quality |
| amniotic fluid | UBERON:0000173 | 57.63 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 57.53 | gold quality |
| oral cavity | UBERON:0000167 | 57.26 | gold quality |
| cerebellar cortex | UBERON:0002129 | 57.00 | gold quality |
| duodenum | UBERON:0002114 | 56.97 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 56.80 | gold quality |
| cerebellum | UBERON:0002037 | 56.75 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 56.69 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 56.25 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 56.07 | gold quality |
| rectum | UBERON:0001052 | 55.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 55.89 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 1819.12 |
| E-GEOD-109979 | yes | 1035.13 |
| E-MTAB-7052 | yes | 152.98 |
| E-CURD-6 | yes | 39.16 |
| E-MTAB-9067 | yes | 9.08 |
| E-ANND-3 | yes | 5.86 |
| E-CURD-97 | no | 95.71 |
| E-MTAB-7303 | no | 28.50 |
| E-MTAB-7249 | no | 18.51 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
7 targets.
| Target | Regulation |
|---|---|
| CXCR4 | Activation |
| GSC | Activation |
| HBA1 | Activation |
| KDR | Activation |
| MIXL1 | |
| PDGFRA | Activation |
| TBXT | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0662.1 | MIXL1 | Paired-related HD factors |
| MA0662.2 | MIXL1 | Paired-related HD factors |
JASPAR matrix evidence (PMIDs): PMID:19711456
Upstream regulators (CollecTRI, top): FOXH1, GLI3, GSC, KDM6B, MIXL1
miRNA regulators (miRDB)
61 targeting MIXL1, 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-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520D-3P | 99.83 | 70.78 | 1676 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
Literature-anchored findings (GeneRIF, showing 7)
- shows functional similarity to Xenopus Mix.1 (PMID:12070013)
- These results demonstrate for a functional role for TGF-beta ligands in regulation of mammalian Mixl1, identify FoxH1 as an essential co-activator, and implicate Nodal as the embryonic regulator of Mixl1 in mesendoderm morphogenesis. (PMID:15982639)
- MIXL1 protein is differentially expressed in non-Hodgkin lymphoma and Hodgkin lymphoma; findings suggest that MIXL1 overexpression may play a role in driving proliferatin or blocking differentiation in lymphoma oncogenesis (PMID:17303500)
- Targeted insertion in human embryonic stem cells of sequences encoding green fluorescent protein (GFP) into the locus of MIXL1, a gene transiently expressed in the primitive streak during embryogenesis. (PMID:18032708)
- Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity (PMID:22164283)
- results demonstrate that Mixl1 and Flk1 play roles…during dimethyl sulfoxide-induced mesodermal specification in P19 cells. (PMID:25521758)
- Findings support the existence of a novel MIXL1-c REL mediated survival axis in AML that can be targeted by BMPR1 inhibitors. (MIXL1- human gene, Mixl1- mouse ortholog, MIXL1- protein). (PMID:25544748)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mixl1 | ENSDARG00000069252 |
| mus_musculus | Mixl1 | ENSMUSG00000026497 |
| rattus_norvegicus | Mixl1 | ENSRNOG00000003176 |
Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), SHOX (ENSG00000185960)
Protein
Protein identifiers
Homeobox protein MIXL1 — Q9H2W2 (reviewed: Q9H2W2)
Alternative names: Homeodomain protein MIX, MIX1 homeobox-like protein 1, Mix.1 homeobox-like protein
All UniProt accessions (1): Q9H2W2
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression.
Subcellular location. Nucleus.
Tissue specificity. Restricted to progenitors and secondary lymph tissues. In normal hematopoiesis, it is restricted to immature B- and T-lymphoid cells. Present in differentiating embryonic stem cells (at protein level).
Post-translational modifications. Phosphorylated at multiple sites.
Similarity. Belongs to the paired homeobox family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H2W2-1 | 1 | yes |
| Q9H2W2-2 | 2 |
RefSeq proteins (2): NP_001269331, NP_114150* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR042917 | MIXL1 | Family |
Pfam: PF00046
UniProt features (8 total): compositionally biased region 3, chain 1, DNA-binding region 1, region of interest 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2W2-F1 | 67.02 | 0.25 |
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): 20
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9754189 | Germ layer formation at gastrulation |
| R-HSA-9823730 | Formation of definitive endoderm |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-9758941 | Gastrulation |
MSigDB gene sets: 97 (showing top):
GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_MESODERM_DEVELOPMENT, GOBP_CELL_MIGRATION_INVOLVED_IN_GASTRULATION, GOBP_GASTRULATION, GOBP_ENDODERM_DEVELOPMENT, GOBP_REGULATION_OF_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_ENDODERM_FORMATION, GOBP_EMBRYO_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_MESODERM_DEVELOPMENT
GO Biological Process (15): endoderm formation (GO:0001706), hematopoietic progenitor cell differentiation (GO:0002244), regulation of transcription by RNA polymerase II (GO:0006357), gastrulation (GO:0007369), endoderm development (GO:0007492), heart development (GO:0007507), endodermal cell differentiation (GO:0035987), cell migration involved in gastrulation (GO:0042074), positive regulation of transcription by RNA polymerase II (GO:0045944), digestive tract development (GO:0048565), negative regulation of hematopoietic progenitor cell differentiation (GO:1901533), positive regulation of mesoderm development (GO:2000382), regulation of DNA-templated transcription (GO:0006355), hemopoiesis (GO:0030097), cell differentiation (GO:0030154)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), protein homodimerization activity (GO:0042803), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), identical protein binding (GO:0042802)
GO Cellular Component (3): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Gastrulation | 2 |
| 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 | 3 |
| cell differentiation | 2 |
| transcription by RNA polymerase II | 2 |
| endoderm formation | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| formation of primary germ layer | 1 |
| endoderm development | 1 |
| hemopoiesis | 1 |
| regulation of DNA-templated transcription | 1 |
| ectoderm formation | 1 |
| mesoderm formation | 1 |
| embryonic morphogenesis | 1 |
| tissue development | 1 |
| animal organ development | 1 |
| circulatory system development | 1 |
| ameboidal-type cell migration | 1 |
| gastrulation | 1 |
| positive regulation of DNA-templated transcription | 1 |
| tube development | 1 |
| digestive system development | 1 |
| hematopoietic progenitor cell differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of hematopoietic progenitor cell differentiation | 1 |
| mesoderm development | 1 |
| positive regulation of developmental process | 1 |
| regulation of mesoderm development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell development | 1 |
| cellular developmental process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| transcription cis-regulatory region binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| identical protein binding | 1 |
Protein interactions and networks
STRING
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MIXL1 | FOXH1 | O75593 | 856 |
| MIXL1 | SOX17 | Q9H6I2 | 839 |
| MIXL1 | FOXA2 | Q9Y261 | 793 |
| MIXL1 | EOMES | O95936 | 775 |
| MIXL1 | NANOG | Q9H9S0 | 742 |
| MIXL1 | FOXA1 | P55317 | 689 |
| MIXL1 | POU5F1 | P31359 | 650 |
| MIXL1 | GATA4 | P43694 | 645 |
| MIXL1 | SOX1 | O00570 | 632 |
| MIXL1 | TBX6 | O95947 | 628 |
| MIXL1 | GATA6 | P78327 | 618 |
| MIXL1 | MESP1 | Q9BRJ9 | 614 |
| MIXL1 | NODAL | Q96S42 | 597 |
| MIXL1 | BMP4 | P12644 | 591 |
| MIXL1 | GATA1 | P15976 | 591 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MIXL1 | TBXT | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (1): MIXL1 (Proximity Label-MS)
ESM2 similar proteins: A1YEV8, A1YF08, A1YG25, A1YG85, A2RU54, A2T711, A2T756, A8MTQ0, O14813, O15522, O35160, O35602, O43763, O70218, P28360, P42580, P43687, P50223, P52945, P52946, P52947, P70118, P70354, P81062, Q06348, Q2VL79, Q2VL84, Q2VL85, Q2VL87, Q2VL88, Q61663, Q62066, Q62782, Q6XYB7, Q7YRX0, Q96IS3, Q99811, Q9DED6, Q9ER42, Q9GK08
Diamond homologs: A0A1W2PPF3, A1YEV8, A1YG25, A1YGA2, A2T711, A2T777, A6NLW8, F1NEA7, L8E946, O35602, O42201, O42250, O42356, O42357, O42358, O42567, O43186, O43812, O54751, O73592, O75360, O97039, O97670, P06601, P09082, P09083, P0CJ85, P0CJ86, P0CJ87, P0CJ88, P0CJ89, P0CJ90, P21711, P22810, P23759, P23760, P24610, P32242, P32243, P47239
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
111 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:226224071:CCAGG:C | donor_loss | 1.0000 |
| 1:226224072:CAGGT:C | donor_loss | 1.0000 |
| 1:226224073:AGGTG:A | donor_loss | 1.0000 |
| 1:226224074:GGTGA:G | donor_loss | 1.0000 |
| 1:226224075:GTG:G | donor_loss | 1.0000 |
| 1:226225502:TCCA:T | acceptor_loss | 1.0000 |
| 1:226225504:CA:C | acceptor_loss | 1.0000 |
| 1:226225505:A:T | acceptor_loss | 1.0000 |
| 1:226225506:GGT:G | acceptor_gain | 1.0000 |
| 1:226225506:GGTAT:G | acceptor_gain | 1.0000 |
| 1:226224075:G:GG | donor_gain | 0.9900 |
| 1:226225506:GGTA:G | acceptor_gain | 0.9900 |
| 1:226225503:CCAGG:C | acceptor_gain | 0.9800 |
| 1:226225504:CAGG:C | acceptor_gain | 0.9800 |
| 1:226225505:A:AG | acceptor_gain | 0.9800 |
| 1:226225505:AG:A | acceptor_gain | 0.9800 |
| 1:226225506:G:GA | acceptor_gain | 0.9800 |
| 1:226225506:GG:G | acceptor_gain | 0.9800 |
| 1:226225502:TCCAG:T | acceptor_gain | 0.9700 |
| 1:226225505:AGGTA:A | acceptor_gain | 0.9600 |
| 1:226225506:G:T | acceptor_gain | 0.9400 |
| 1:226224176:C:T | donor_gain | 0.9200 |
| 1:226225501:TTCCA:T | acceptor_gain | 0.8900 |
| 1:226224068:G:GT | donor_gain | 0.8200 |
| 1:226224134:C:A | donor_gain | 0.8200 |
| 1:226224194:GCTC:G | donor_gain | 0.8200 |
| 1:226225748:A:C | acceptor_gain | 0.8200 |
| 1:226224224:A:AG | donor_gain | 0.8000 |
| 1:226224522:C:T | donor_gain | 0.7800 |
| 1:226224165:G:T | donor_gain | 0.7200 |
AlphaMissense
1474 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:226223994:T:C | F105L | 1.000 |
| 1:226223996:C:A | F105L | 1.000 |
| 1:226223996:C:G | F105L | 1.000 |
| 1:226225513:T:C | F134L | 1.000 |
| 1:226225515:C:A | F134L | 1.000 |
| 1:226225515:C:G | F134L | 1.000 |
| 1:226223958:T:C | F93L | 0.999 |
| 1:226223960:C:A | F93L | 0.999 |
| 1:226223960:C:G | F93L | 0.999 |
| 1:226225510:T:A | W133R | 0.999 |
| 1:226225510:T:C | W133R | 0.999 |
| 1:226225512:G:C | W133C | 0.999 |
| 1:226225512:G:T | W133C | 0.999 |
| 1:226225513:T:G | F134V | 0.999 |
| 1:226225514:T:C | F134S | 0.999 |
| 1:226225514:T:G | F134C | 0.999 |
| 1:226225519:A:G | N136D | 0.999 |
| 1:226225520:A:G | N136S | 0.999 |
| 1:226225521:C:A | N136K | 0.999 |
| 1:226225521:C:G | N136K | 0.999 |
| 1:226223959:T:C | F93S | 0.998 |
| 1:226223959:T:G | F93C | 0.998 |
| 1:226223994:T:A | F105I | 0.998 |
| 1:226223994:T:G | F105V | 0.998 |
| 1:226223995:T:C | F105S | 0.998 |
| 1:226224010:A:G | Y110C | 0.998 |
| 1:226224012:C:T | P111S | 0.998 |
| 1:226224013:C:A | P111H | 0.998 |
| 1:226224070:T:C | I130T | 0.998 |
| 1:226225513:T:A | F134I | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000995714 (1:226221872 T>C), RS1001495271 (1:226221925 T>G), RS1001642615 (1:226222575 T>C), RS1001716258 (1:226222173 G>A), RS1003169200 (1:226223395 G>A), RS1003391854 (1:226223747 C>A,G,T), RS1004083090 (1:226226488 G>A), RS1005484128 (1:226224932 G>A,T), RS1005622947 (1:226223757 G>A,T), RS1006095294 (1:226223043 G>T), RS1006211732 (1:226222218 G>C), RS1006636683 (1:226222633 TAAG>T), RS1006729625 (1:226223377 T>A,C), RS1007603776 (1:226222656 A>G), RS1007802946 (1:226222962 G>A,C)
Disease associations
OMIM: gene MIM:609852 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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 |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | affects expression | 1 |
| terbufos | increases methylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Dolutegravir | increases expression | 1 |
| Azathioprine | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Fonofos | increases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lead | decreases expression | 1 |
| Parathion | increases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Tretinoin | affects expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Oxyquinoline | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| tert-Butylhydroperoxide | affects expression | 1 |
| Vitamin K 3 | affects 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.