MNDA
gene geneOn this page
Also known as PYHIN3
Summary
MNDA (myeloid cell nuclear differentiation antigen, HGNC:7183) is a protein-coding gene on chromosome 1q23.1, encoding Myeloid cell nuclear differentiation antigen (P41218). May act as a transcriptional activator/repressor in the myeloid lineage.
The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons.
Source: NCBI Gene 4332 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 640 total — 1 pathogenic
- MANE Select transcript:
NM_002432
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7183 |
| Approved symbol | MNDA |
| Name | myeloid cell nuclear differentiation antigen |
| Location | 1q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PYHIN3 |
| Ensembl gene | ENSG00000163563 |
| Ensembl biotype | protein_coding |
| OMIM | 159553 |
| Entrez | 4332 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000368141, ENST00000438394, ENST00000491210, ENST00000867925, ENST00000867926, ENST00000963510, ENST00000963511
RefSeq mRNA: 1 — MANE Select: NM_002432
NM_002432
CCDS: CCDS1177
Canonical transcript exons
ENST00000368141 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001075996 | 158843955 | 158844122 |
| ENSE00001075997 | 158845587 | 158846003 |
| ENSE00001075998 | 158843279 | 158843415 |
| ENSE00001075999 | 158847728 | 158847916 |
| ENSE00001446406 | 158849190 | 158849502 |
| ENSE00001446407 | 158842134 | 158842418 |
| ENSE00001446408 | 158831351 | 158831557 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 99.69.
FANTOM5 (CAGE): breadth broad, TPM avg 47.6526 / max 10342.7847, expressed in 454 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5895 | 45.6028 | 452 |
| 5896 | 0.3743 | 92 |
| 5898 | 0.3668 | 117 |
| 5900 | 0.3208 | 103 |
| 5910 | 0.2489 | 68 |
| 5897 | 0.2010 | 81 |
| 5909 | 0.1939 | 58 |
| 5908 | 0.1482 | 55 |
| 5899 | 0.1058 | 47 |
| 5907 | 0.0900 | 33 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 99.69 | gold quality |
| mononuclear cell | CL:0000842 | 99.66 | gold quality |
| leukocyte | CL:0000738 | 99.64 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.59 | gold quality |
| blood | UBERON:0000178 | 99.45 | gold quality |
| granulocyte | CL:0000094 | 99.29 | gold quality |
| bone marrow | UBERON:0002371 | 98.77 | gold quality |
| periodontal ligament | UBERON:0008266 | 98.62 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.29 | gold quality |
| bone marrow cell | CL:0002092 | 98.21 | gold quality |
| spleen | UBERON:0002106 | 96.12 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.07 | gold quality |
| right lung | UBERON:0002167 | 92.67 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.43 | gold quality |
| lower lobe of lung | UBERON:0008949 | 90.91 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 89.16 | gold quality |
| upper lobe of lung | UBERON:0008948 | 88.99 | gold quality |
| gall bladder | UBERON:0002110 | 88.81 | gold quality |
| lung | UBERON:0002048 | 88.57 | gold quality |
| decidua | UBERON:0002450 | 87.54 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.12 | silver quality |
| caecum | UBERON:0001153 | 86.13 | gold quality |
| visceral pleura | UBERON:0002401 | 85.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.15 | gold quality |
| pleura | UBERON:0000977 | 85.04 | gold quality |
| parietal pleura | UBERON:0002400 | 84.13 | gold quality |
| amniotic fluid | UBERON:0000173 | 82.84 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.68 | gold quality |
| lymph node | UBERON:0000029 | 82.52 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 81.39 | gold quality |
Single-cell (SCXA)
Detected in 29 experiment(s), a significant marker in 29.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 4826.20 |
| E-GEOD-149689 | yes | 3848.26 |
| E-MTAB-9801 | yes | 3584.86 |
| E-GEOD-150728 | yes | 3127.81 |
| E-MTAB-10042 | yes | 2795.47 |
| E-HCAD-32 | yes | 2019.12 |
| E-HCAD-10 | yes | 1428.75 |
| E-CURD-55 | yes | 1351.29 |
| E-MTAB-9067 | yes | 914.22 |
| E-MTAB-6678 | yes | 840.45 |
| E-GEOD-130473 | yes | 819.99 |
| E-MTAB-9906 | yes | 797.01 |
| E-CURD-79 | yes | 704.63 |
| E-ANND-5 | yes | 675.08 |
| E-HCAD-4 | yes | 216.76 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SP1, SPI1
miRNA regulators (miRDB)
20 targeting MNDA, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-3146 | 98.85 | 66.77 | 601 |
| HSA-MIR-6796-3P | 98.68 | 65.49 | 689 |
| HSA-MIR-3152-5P | 96.98 | 66.88 | 819 |
Literature-anchored findings (GeneRIF, showing 13)
- Retroviral mediated expression of the human myeloid nuclear antigen in a null cell line upregulates Dlk1 expression (PMID:12112016)
- variation in MNDA expression appeared to change with phenotypic specialization of monocytes in atherosclerosis consistent with its association with inflammation and suspected roles in regulating gene expression or in mediating cell death (PMID:15778972)
- MNDA has a role regulating programmed cell death in myeloid progenitor cells, and that its down-regulation in myelodysplastic syndromes is related to granulocyte-macrophage progenitor cell sensitivity to TRAIL-induced programmed cell death. (PMID:16651415)
- MNDA expression is a useful tool for the recognition of nodal marginal zone lymphoma (PMID:19474799)
- Myeloid antigen expression is a predictor of a poor response to chemotherapy, and an adverse prognostic factor in adult T-lymphoblastic lymphoma, but not in children with T-LBL. (PMID:20193116)
- Studied the HIN domain of recombinant myeloid nuclear differentiation antigen (MNDA). (PMID:24557068)
- these data support the inclusion of MNDA in the diagnostic evaluation of extramedullary B-cell lymphomas, particularly those in which the differential diagnosis is between low-grade follicular lymphoma and marginal zone lymphoma. (PMID:24925224)
- MFC adds significant information on dyspoiesis in the diagnostic work up for MDS and provides prognostic information. MNDA expression can be assessed by MFC and may facilitate evaluation of dyspoiesis when added to MDS MFC panels. (PMID:26184452)
- MNDA expression is an independent marker for the evaluation of dyspoiesis and may be added to the standard panel for quantitative assessment by FCM. (PMID:26822549)
- IRTA1 and MNDA are useful markers in the differential diagnosis of marginal zone lymphomas (MZLs). (PMID:30346478)
- MNDA controls the expression of MCL-1 and BCL-2 in chronic lymphocytic leukemia cells. (PMID:32682001)
- MNDA, a PYHIN factor involved in transcriptional regulation and apoptosis control in leukocytes. (PMID:38680493)
- Myeloid cell-expressed MNDA enhances M2 polarization to facilitate the metastasis of hepatocellular carcinoma. (PMID:38904028)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ifi202b | ENSMUSG00000026535 |
| mus_musculus | Ifi211 | ENSMUSG00000026536 |
| mus_musculus | Ifi205 | ENSMUSG00000054203 |
| mus_musculus | Mndal | ENSMUSG00000090272 |
| rattus_norvegicus | Mnda | ENSRNOG00000003486 |
Paralogs (3): PYHIN1 (ENSG00000163564), IFI16 (ENSG00000163565), AIM2 (ENSG00000163568)
Protein
Protein identifiers
Myeloid cell nuclear differentiation antigen — P41218 (reviewed: P41218)
All UniProt accessions (3): P41218, H0Y6P3, Q5VUU6
UniProt curated annotations — full annotation on UniProt →
Function. May act as a transcriptional activator/repressor in the myeloid lineage. Plays a role in the granulocyte/monocyte cell-specific response to interferon. Stimulates the DNA binding of the transcriptional repressor protein YY1.
Subunit / interactions. Participates in a ternary complex with YY1 and the YY1 target DNA element. Binds nucleolin and nucleophosmin/NPM/B23.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed constitutively in cells of the myeloid lineage. Found in promyelocyte stage cells as well as in all other stage cells including peripheral blood monocytes and granulocytes. Also appears in myeloblast cells in some cases of acute myeloid Leukemia.
Domain organisation. Its N-terminal half (200 amino acids) is sufficient for maximum enhancement of YY1 DNA binding and a portion of this sequence is responsible for binding YY1.
Induction. Strongly induced by alpha interferon which selectively affects expression in late stage cells in the monocytic but not the granulocytic lineage. Induced in vitro by dimethylsulfoxide and 1,25 dihydroxyvitamin D3.
RefSeq proteins (1): NP_002423* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004020 | DAPIN | Domain |
| IPR004021 | HIN200/IF120x | Domain |
| IPR011029 | DEATH-like_dom_sf | Homologous_superfamily |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR040205 | HIN-200 | Family |
Pfam: PF02758, PF02760
UniProt features (38 total): strand 14, helix 13, sequence variant 3, domain 2, compositionally biased region 2, chain 1, turn 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5H7Q | X-RAY DIFFRACTION | 1.45 |
| 5WPZ | X-RAY DIFFRACTION | 2 |
| 8I6K | X-RAY DIFFRACTION | 2.4 |
| 2DBG | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P41218-F1 | 78.60 | 0.62 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 268 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, MODULE_151, CHUNG_BLISTER_CYTOTOXICITY_DN, MODULE_45, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP
GO Biological Process (7): activation of innate immune response (GO:0002218), cellular defense response (GO:0006968), DNA damage response (GO:0006974), negative regulation of B cell proliferation (GO:0030889), cellular response to interferon-beta (GO:0035458), positive regulation of apoptotic process (GO:0043065), B cell receptor signaling pathway (GO:0050853)
GO Molecular Function (3): double-stranded DNA binding (GO:0003690), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (9): extracellular region (GO:0005576), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), azurophil granule lumen (GO:0035578), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear lumen | 2 |
| activation of immune response | 1 |
| positive regulation of innate immune response | 1 |
| defense response | 1 |
| cellular response to stress | 1 |
| regulation of B cell proliferation | 1 |
| B cell proliferation | 1 |
| negative regulation of lymphocyte proliferation | 1 |
| negative regulation of B cell activation | 1 |
| response to interferon-beta | 1 |
| cellular response to cytokine stimulus | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| antigen receptor-mediated signaling pathway | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| vacuolar lumen | 1 |
| secretory granule lumen | 1 |
| azurophil granule | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1552 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MNDA | MEFV | O15553 | 727 |
| MNDA | SPTA1 | P02549 | 542 |
| MNDA | FCER1A | P12319 | 528 |
| MNDA | PYCARD | Q9ULZ3 | 518 |
| MNDA | CD53 | P19397 | 517 |
| MNDA | IFNA16 | P05015 | 514 |
| MNDA | IFNA8 | P01565 | 511 |
| MNDA | IFNA7 | P01567 | 507 |
| MNDA | IFNA21 | P01568 | 507 |
| MNDA | FPR1 | P21462 | 507 |
| MNDA | IFNA5 | P01569 | 506 |
| MNDA | IFNA14 | P01570 | 505 |
| MNDA | TLR8 | Q9NR97 | 504 |
| MNDA | LYZ | P00695 | 494 |
| MNDA | IFNA6 | P05013 | 492 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HEMGN | NPM1 | psi-mi:“MI:0914”(association) | 0.600 |
| MNDA | A2M | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TOR1A | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GRN | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | MET | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | NDUFV1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | PEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSEN2 | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | TTR | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAG | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| SETDB1 | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT5 | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | MNDA | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNDA | HTT | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (189): MNDA (Synthetic Lethality), MNDA (Two-hybrid), MNDA (Two-hybrid), MNDA (Two-hybrid), MNDA (Biochemical Activity), MNDA (Proximity Label-MS), AATF (Affinity Capture-MS), ATXN2 (Affinity Capture-MS), ATXN2L (Affinity Capture-MS), BMS1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BYSL (Affinity Capture-MS), KNOP1 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS)
ESM2 similar proteins: A6H5X4, B1AUS7, D0QMC3, O35368, O60224, O60225, P0C6Y7, P0DOV1, P0DOV2, P23497, P41218, Q15361, Q16384, Q16385, Q16666, Q2KIN0, Q3U827, Q3ZCI6, Q4R7Q1, Q504N7, Q5H9L4, Q5I0E2, Q5I0J8, Q5RAK3, Q5RCZ8, Q5RD14, Q5W0A0, Q62187, Q6K0P9, Q71F23, Q7RTT3, Q7RTT4, Q7RTT5, Q7RTT6, Q86T96, Q8BV49, Q8BVM9, Q8C0V1, Q8C6C7, Q8CGE8
Diamond homologs: D0QMC3, O14862, O35368, P0DOV1, P0DOV2, P41218, Q16666, Q3V3Q4, Q504N7, Q5RD14, Q6K0P9, Q8BV49, Q8CGE8, Q8SPH9, Q91VJ1, Q9R002, W6CW81
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
640 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 409 |
| Likely benign | 225 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3247947 | NC_000001.10:g.(?158581054)(158819027_?)del | Pathogenic |
SpliceAI
924 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:158831556:AGGTG:A | donor_loss | 1.0000 |
| 1:158831558:GTGAG:G | donor_loss | 1.0000 |
| 1:158843273:T:TA | acceptor_gain | 1.0000 |
| 1:158843274:GTCA:G | acceptor_loss | 1.0000 |
| 1:158843275:TCAGT:T | acceptor_loss | 1.0000 |
| 1:158843277:A:AG | acceptor_gain | 1.0000 |
| 1:158843277:A:C | acceptor_loss | 1.0000 |
| 1:158843277:AGTT:A | acceptor_gain | 1.0000 |
| 1:158843278:G:A | acceptor_loss | 1.0000 |
| 1:158843278:G:GC | acceptor_gain | 1.0000 |
| 1:158843278:GT:G | acceptor_gain | 1.0000 |
| 1:158843278:GTT:G | acceptor_gain | 1.0000 |
| 1:158843278:GTTG:G | acceptor_gain | 1.0000 |
| 1:158843278:GTTGC:G | acceptor_gain | 1.0000 |
| 1:158844524:A:G | donor_gain | 1.0000 |
| 1:158847727:GA:G | acceptor_gain | 1.0000 |
| 1:158847727:GAAAA:G | acceptor_gain | 1.0000 |
| 1:158847934:GAGAA:G | donor_gain | 1.0000 |
| 1:158832452:ATTTT:A | donor_gain | 0.9900 |
| 1:158842132:A:AG | acceptor_gain | 0.9900 |
| 1:158842133:G:GG | acceptor_gain | 0.9900 |
| 1:158843280:T:A | acceptor_gain | 0.9900 |
| 1:158843411:CTCAG:C | donor_loss | 0.9900 |
| 1:158843412:TCAG:T | donor_loss | 0.9900 |
| 1:158843413:CAGGT:C | donor_loss | 0.9900 |
| 1:158843416:G:T | donor_loss | 0.9900 |
| 1:158843417:T:G | donor_loss | 0.9900 |
| 1:158844514:GACA:G | donor_gain | 0.9900 |
| 1:158845802:G:GT | donor_gain | 0.9900 |
| 1:158847724:GCAG:G | acceptor_loss | 0.9900 |
AlphaMissense
2694 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:158845794:T:C | F260L | 0.988 |
| 1:158845796:T:A | F260L | 0.988 |
| 1:158845796:T:G | F260L | 0.988 |
| 1:158845989:T:C | F325L | 0.987 |
| 1:158845991:T:A | F325L | 0.987 |
| 1:158845991:T:G | F325L | 0.987 |
| 1:158845722:T:C | F236L | 0.986 |
| 1:158845724:T:A | F236L | 0.986 |
| 1:158845724:T:G | F236L | 0.986 |
| 1:158845728:G:C | A238P | 0.985 |
| 1:158847905:A:C | S389R | 0.983 |
| 1:158847907:C:A | S389R | 0.983 |
| 1:158847907:C:G | S389R | 0.983 |
| 1:158845738:C:A | A241D | 0.982 |
| 1:158845795:T:C | F260S | 0.979 |
| 1:158845723:T:C | F236S | 0.978 |
| 1:158845729:C:A | A238D | 0.976 |
| 1:158845795:T:G | F260C | 0.975 |
| 1:158845737:G:C | A241P | 0.971 |
| 1:158847767:G:C | D343H | 0.970 |
| 1:158842319:T:C | F56L | 0.969 |
| 1:158842321:C:A | F56L | 0.969 |
| 1:158842321:C:G | F56L | 0.969 |
| 1:158845990:T:C | F325S | 0.968 |
| 1:158847762:T:A | I341K | 0.966 |
| 1:158845983:G:T | G323W | 0.965 |
| 1:158845735:T:A | V240E | 0.961 |
| 1:158845666:T:C | L217P | 0.959 |
| 1:158847848:T:C | F370L | 0.959 |
| 1:158847850:C:A | F370L | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000020171 (1:158831854 G>A), RS1000041657 (1:158845366 T>C), RS1000104626 (1:158847583 T>A), RS1000140086 (1:158838491 T>C), RS1000261373 (1:158838779 A>G), RS1000386485 (1:158844495 C>A,T), RS1000634142 (1:158833985 CT>C), RS1000849837 (1:158839713 A>G,T), RS1000963958 (1:158833622 C>T), RS1001318188 (1:158846433 A>C), RS1001477663 (1:158833312 T>C), RS1001547798 (1:158833585 G>C), RS1001663143 (1:158846796 C>T), RS1001689962 (1:158830327 C>A,T), RS1001963614 (1:158836325 G>T)
Disease associations
OMIM: gene MIM:159553 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_657 | Obesity-related traits | 1.000000e-06 |
| GCST008765_1 | Perceived intensity of aspartame | 3.000000e-06 |
| GCST009391_61 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003939 | energy intake |
| EFO:0010352 | diacylglycerol 34:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Absent in melanoma (AIM)-like receptors (ALRs)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression, increases expression | 3 |
| Tretinoin | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| sulforaphane | increases expression | 1 |
| tetrathiomolybdate | increases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Zidovudine | affects cotreatment, increases expression | 1 |
| Asbestos, Serpentine | decreases expression | 1 |
| Uranium Compounds | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 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.