MINDY1
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Also known as FLJ11280MINDY-1
Summary
MINDY1 (MINDY lysine 48 deubiquitinase 1, HGNC:25648) is a protein-coding gene on chromosome 1q21.3, encoding Ubiquitin carboxyl-terminal hydrolase MINDY-1 (Q8N5J2). Hydrolase that can specifically remove ‘Lys-48’-linked conjugated ubiquitin from proteins.
Enables K48-linked deubiquitinase activity; K48-linked polyubiquitin modification-dependent protein binding activity; and cysteine-type carboxypeptidase activity. Predicted to be involved in proteolysis. Located in nuclear body.
Source: NCBI Gene 55793 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 99 total
- MANE Select transcript:
NM_001376665
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25648 |
| Approved symbol | MINDY1 |
| Name | MINDY lysine 48 deubiquitinase 1 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11280, MINDY-1 |
| Ensembl gene | ENSG00000143409 |
| Ensembl biotype | protein_coding |
| OMIM | 618407 |
| Entrez | 55793 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 34 protein_coding
ENST00000312210, ENST00000361738, ENST00000361936, ENST00000493834, ENST00000497067, ENST00000683666, ENST00000888222, ENST00000888223, ENST00000888224, ENST00000888225, ENST00000888226, ENST00000888227, ENST00000888228, ENST00000888229, ENST00000888230, ENST00000888231, ENST00000931104, ENST00000931105, ENST00000931106, ENST00000942999, ENST00000943000, ENST00000943001, ENST00000943002, ENST00000943003, ENST00000943004, ENST00000943005, ENST00000943006, ENST00000943007, ENST00000943008, ENST00000943009, ENST00000943010, ENST00000943011, ENST00000943012, ENST00000943013
RefSeq mRNA: 17 — MANE Select: NM_001376665
NM_001040217, NM_001163258, NM_001163259, NM_001163260, NM_001319998, NM_001376664, NM_001376665, NM_001376666, NM_001376667, NM_001376668, NM_001376669, NM_001376670, NM_001376671, NM_001376672, NM_001376673, NM_001376674, NM_018379
CCDS: CCDS30854, CCDS55635, CCDS976
Canonical transcript exons
ENST00000683666 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001072089 | 150998082 | 150998273 |
| ENSE00001072091 | 150997624 | 150997779 |
| ENSE00001072097 | 151000457 | 151000615 |
| ENSE00001072101 | 150999369 | 150999511 |
| ENSE00001185822 | 150996835 | 150997367 |
| ENSE00001599206 | 151002165 | 151002706 |
| ENSE00003462542 | 151001725 | 151001782 |
| ENSE00003469852 | 151001250 | 151001314 |
| ENSE00003536702 | 150999862 | 150999964 |
| ENSE00003917352 | 151006312 | 151006902 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 94.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0026 / max 284.2557, expressed in 1747 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14390 | 7.2524 | 1543 |
| 14391 | 5.2734 | 1576 |
| 14380 | 2.0927 | 808 |
| 14382 | 0.7256 | 279 |
| 14383 | 0.5903 | 235 |
| 14386 | 0.5038 | 176 |
| 14381 | 0.4377 | 251 |
| 14393 | 0.2487 | 89 |
| 14384 | 0.2386 | 102 |
| 14389 | 0.2126 | 78 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 94.99 | gold quality |
| apex of heart | UBERON:0002098 | 93.93 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.86 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.75 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.18 | gold quality |
| thyroid gland | UBERON:0002046 | 92.85 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.83 | gold quality |
| spinal cord | UBERON:0002240 | 92.79 | gold quality |
| pancreas | UBERON:0001264 | 92.41 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.38 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.49 | gold quality |
| blood | UBERON:0000178 | 91.46 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.28 | gold quality |
| tibial nerve | UBERON:0001323 | 91.03 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.68 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.49 | gold quality |
| monocyte | CL:0000576 | 90.45 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 90.37 | silver quality |
| mononuclear cell | CL:0000842 | 90.36 | gold quality |
| ileal mucosa | UBERON:0000331 | 90.32 | silver quality |
| body of stomach | UBERON:0001161 | 90.22 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.22 | gold quality |
| leukocyte | CL:0000738 | 90.20 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.07 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.06 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.77 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.63 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 89.49 | gold quality |
| heart | UBERON:0000948 | 89.44 | gold quality |
| stomach | UBERON:0000945 | 89.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting MINDY1, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-6877-3P | 98.98 | 65.83 | 560 |
| HSA-MIR-6819-3P | 98.95 | 65.57 | 572 |
| HSA-MIR-455-3P | 98.94 | 67.68 | 878 |
| HSA-MIR-4763-5P | 98.75 | 63.89 | 854 |
| HSA-MIR-589-5P | 98.72 | 66.96 | 927 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-6796-3P | 98.68 | 65.49 | 689 |
| HSA-MIR-4782-5P | 98.35 | 69.33 | 1474 |
| HSA-MIR-5706 | 98.35 | 69.33 | 1463 |
| HSA-MIR-4518 | 98.12 | 66.82 | 1030 |
| HSA-MIR-744-3P | 97.99 | 67.76 | 637 |
| HSA-MIR-4708-5P | 97.77 | 67.82 | 831 |
| HSA-MIR-1266-5P | 97.71 | 66.92 | 1052 |
| HSA-MIR-6793-3P | 97.66 | 65.78 | 1084 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
| HSA-MIR-212-5P | 96.83 | 67.43 | 950 |
| HSA-MIR-3135A | 96.41 | 65.30 | 494 |
| HSA-MIR-5586-5P | 96.29 | 68.02 | 685 |
| HSA-MIR-2114-3P | 95.45 | 66.11 | 579 |
| HSA-MIR-6823-3P | 95.45 | 66.14 | 704 |
| HSA-MIR-874-3P | 95.02 | 65.66 | 806 |
Literature-anchored findings (GeneRIF, showing 3)
- MINDY-1 prefers cleaving long polyubiquitin chains and works by trimming chains from the distal end. (PMID:27292798)
- Mechanism of activation and regulation of deubiquitinase activity in MINDY1 and MINDY2. (PMID:34529927)
- MINDY1 promotes breast cancer cell proliferation by stabilizing estrogen receptor alpha. (PMID:34645792)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mindy1 | ENSDARG00000004866 |
| mus_musculus | Mindy1 | ENSMUSG00000038712 |
| rattus_norvegicus | Mindy1 | ENSRNOG00000021131 |
| caenorhabditis_elegans | WBGENE00021926 |
Paralogs (1): MINDY2 (ENSG00000128923)
Protein
Protein identifiers
Ubiquitin carboxyl-terminal hydrolase MINDY-1 — Q8N5J2 (reviewed: Q8N5J2)
Alternative names: Deubiquitinating enzyme MINDY-1, Protein FAM63A
All UniProt accessions (2): Q8N5J2, H0YJH5
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolase that can specifically remove ‘Lys-48’-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover.
Similarity. Belongs to the MINDY deubiquitinase family. FAM63 subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N5J2-1 | 1 | yes |
| Q8N5J2-2 | 2 | |
| Q8N5J2-3 | 3 | |
| Q8N5J2-4 | 4 |
RefSeq proteins (17): NP_001035307, NP_001156730, NP_001156731, NP_001156732, NP_001306927, NP_001363593, NP_001363594, NP_001363595, NP_001363596, NP_001363597, NP_001363598, NP_001363599, NP_001363600, NP_001363601, NP_001363602, NP_001363603, NP_060849 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007518 | MINDY | Family |
| IPR033979 | MINDY_domain | Domain |
Pfam: PF04424
UniProt features (75 total): mutagenesis site 30, strand 12, helix 11, region of interest 3, site 3, splice variant 3, compositionally biased region 3, sequence conflict 3, modified residue 2, active site 2, chain 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5MN9 | X-RAY DIFFRACTION | 2.05 |
| 6TUV | X-RAY DIFFRACTION | 2.16 |
| 6TXB | X-RAY DIFFRACTION | 2.18 |
| 5JQS | X-RAY DIFFRACTION | 2.65 |
| 5JKN | X-RAY DIFFRACTION | 3 |
| 6YJG | X-RAY DIFFRACTION | 3.28 |
| 6Y6R | X-RAY DIFFRACTION | 3.32 |
| 6Z90 | X-RAY DIFFRACTION | 3.59 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N5J2-F1 | 73.65 | 0.48 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (5): 415–416 (ubiquitin-binding); 419 (ubiquitin-binding); 137 (nucleophile); 319 (proton acceptor); 412 (ubiquitin-binding)
Post-translational modifications (2): 103, 441
Mutagenesis-validated functional residues (30):
| Position | Phenotype |
|---|---|
| 131 | abolishes ubiquitin hydrolase activity. |
| 137 | abolishes ubiquitin hydrolase activity. |
| 209 | abolishes ubiquitin hydrolase activity. |
| 210 | greatly impairs ubiquitin hydrolase activity. |
| 240 | abolishes ubiquitin hydrolase activity. |
| 258 | abolishes ubiquitin hydrolase activity. |
| 263 | greatly impairs ubiquitin hydrolase activity. |
| 263 | abolishes ubiquitin hydrolase activity. |
| 315 | abolishes ubiquitin hydrolase activity. |
| 319 | abolishes ubiquitin hydrolase activity. |
| 396 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 408 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 411 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 412 | loss of binding to ’lys-48’ tetraubiquitin chains. |
| 413 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 414 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 415–416 | decreased association with ’lys-48’-linked conjugated ubiquitin. |
| 415 | loss of binding to ’lys-48’ tetraubiquitin chains. |
| 416 | loss of binding to ’lys-48’ tetraubiquitin chains. |
| 416 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 418 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 419 | loss of binding to ’lys-48’ tetraubiquitin chains. |
| 420 | loss of binding to ’lys-48’ tetraubiquitin chains. |
| 421 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
| 422 | no effect on binding to ’lys-48’ tetraubiquitin chains. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
CMYB_01, AP4_Q6, GGAMTNNNNNTCCY_UNKNOWN, CAGCTG_AP4_Q5, PATIL_LIVER_CANCER, TCF4_Q5, AML_Q6, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, TGCTGAY_UNKNOWN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, MYB_Q3, FOXO4_02, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MYB_Q5_01, chr1q21
GO Biological Process (1): proteolysis (GO:0006508)
GO Molecular Function (8): cysteine-type deubiquitinase activity (GO:0004843), cysteine-type carboxypeptidase activity (GO:0016807), K48-linked polyubiquitin modification-dependent protein binding (GO:0036435), K48-linked deubiquitinase activity (GO:1990380), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleoplasm (GO:0005654), nuclear body (GO:0016604), cell periphery (GO:0071944)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| deubiquitinase activity | 2 |
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| cysteine-type peptidase activity | 1 |
| carboxypeptidase activity | 1 |
| cysteine-type exopeptidase activity | 1 |
| polyubiquitin modification-dependent protein binding | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MINDY1 | SLC13A5 | Q86YT5 | 790 |
| MINDY1 | COPS5 | Q92905 | 669 |
| MINDY1 | MINDY4 | Q4G0A6 | 649 |
| MINDY1 | ZUP1 | Q96AP4 | 615 |
| MINDY1 | JOSD1 | Q15040 | 578 |
| MINDY1 | JOSD2 | Q8TAC2 | 577 |
| MINDY1 | MINDY3 | Q9H8M7 | 543 |
| MINDY1 | MPND | Q8N594 | 513 |
| MINDY1 | USP7 | Q93009 | 509 |
| MINDY1 | USP14 | P54578 | 471 |
| MINDY1 | USP22 | Q9UPT9 | 462 |
| MINDY1 | USP13 | Q92995 | 434 |
| MINDY1 | RCHY1 | Q96PM5 | 432 |
| MINDY1 | OTUB1 | Q96FW1 | 430 |
| MINDY1 | USP28 | Q96RU2 | 426 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MINDY1 | FLJ13057 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MANSC1 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM31 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| KDELR1 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNA10 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| CD1D | MINDY1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | MINDY1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OR6M1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| CTLA4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM74 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| OR5H1 | RBFOX3 | psi-mi:“MI:0914”(association) | 0.350 |
| NRSN1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM63C | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| PTCHD3 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| RGS9BP | HGS | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB1 | BET1 | psi-mi:“MI:0914”(association) | 0.350 |
| OR10S1 | ABCC4 | psi-mi:“MI:0914”(association) | 0.350 |
| OR1A2 | EMC8 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF126 | GET3 | psi-mi:“MI:0914”(association) | 0.350 |
| CNGA4 | CCDC22 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN16 | ENDOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| GRTP1 | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| OR2G6 | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| BTBD6 | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| SEL1L3 | CANX | psi-mi:“MI:0914”(association) | 0.350 |
| CHIA | TPP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGH | PTGDS | psi-mi:“MI:0914”(association) | 0.350 |
| ZP3 | SERPINB8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (62): GMCL1 (Two-hybrid), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), FAM63A (Reconstituted Complex), UBC (Reconstituted Complex), RPS27A (Co-crystal Structure)
ESM2 similar proteins: A3KMI0, A3KQS4, A5PF44, A6QP16, A8E7C5, B1H2Q2, F4HZF0, O15226, O96838, P34550, Q09874, Q29FC1, Q2KI23, Q2KJ22, Q3SWY8, Q3T9Z9, Q3V0G7, Q4R4A2, Q5BJQ2, Q5R7G8, Q5U2S3, Q5VVW2, Q5XHY7, Q61502, Q6NZC7, Q6P158, Q6P5D3, Q6PDI6, Q6PGC1, Q75E61, Q76LS9, Q7M760, Q7TSI3, Q7XI08, Q7Z478, Q8C437, Q8GY87, Q8H106, Q8N5J2, Q8NBR6
Diamond homologs: A3KQS4, P53155, Q2KI23, Q2KJ22, Q5BJQ2, Q5R7G8, Q6PDI6, Q76LS9, Q8N5J2, Q8NBR6, Q08930, Q09874
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 73 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1785 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:150999363:CATTA:C | donor_loss | 1.0000 |
| 1:150999365:TTA:T | donor_loss | 1.0000 |
| 1:150999366:TACC:T | donor_loss | 1.0000 |
| 1:150999367:A:C | donor_loss | 1.0000 |
| 1:150999368:C:G | donor_loss | 1.0000 |
| 1:150999427:T:A | donor_gain | 1.0000 |
| 1:150999516:C:CT | acceptor_gain | 1.0000 |
| 1:150999516:C:T | acceptor_gain | 1.0000 |
| 1:151000532:A:AC | donor_gain | 1.0000 |
| 1:151000532:AAAAT:A | donor_gain | 1.0000 |
| 1:151000533:A:C | donor_gain | 1.0000 |
| 1:151000612:CATT:C | acceptor_gain | 1.0000 |
| 1:151000614:TT:T | acceptor_gain | 1.0000 |
| 1:151000616:C:CC | acceptor_gain | 1.0000 |
| 1:150997753:C:CC | acceptor_gain | 0.9900 |
| 1:150998159:G:C | donor_gain | 0.9900 |
| 1:150998172:G:C | donor_gain | 0.9900 |
| 1:150999433:G:C | donor_gain | 0.9900 |
| 1:150999507:CAGGC:C | acceptor_gain | 0.9900 |
| 1:150999512:C:CC | acceptor_gain | 0.9900 |
| 1:150999512:CT:C | acceptor_loss | 0.9900 |
| 1:150999513:T:G | acceptor_loss | 0.9900 |
| 1:150999517:A:T | acceptor_gain | 0.9900 |
| 1:150999981:A:AC | acceptor_gain | 0.9900 |
| 1:150999981:A:C | acceptor_gain | 0.9900 |
| 1:150999992:C:CT | acceptor_gain | 0.9900 |
| 1:150999993:A:T | acceptor_gain | 0.9900 |
| 1:151000451:CCTCA:C | donor_loss | 0.9900 |
| 1:151000452:CTCA:C | donor_loss | 0.9900 |
| 1:151000453:TCACC:T | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000195456 (1:150998226 C>A,G,T), RS1000283227 (1:151005157 G>C), RS1000397284 (1:151001521 T>C), RS1000499435 (1:150996792 C>T), RS1001007281 (1:151003622 C>A,T), RS1001015652 (1:151003230 C>A,G,T), RS1001561979 (1:150998970 G>C), RS1001671565 (1:150999976 G>A), RS1001685033 (1:151006299 A>G), RS1001707567 (1:150998458 C>T), RS1001714790 (1:151005912 A>C), RS1002308147 (1:151001869 G>A), RS1002634003 (1:151007926 G>A), RS1003116946 (1:151000258 A>G), RS1003273316 (1:151002001 C>A,G,T)
Disease associations
OMIM: gene MIM:618407 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000649_7 | Chronic kidney disease | 1.000000e-12 |
| GCST001966_1 | Rhegmatogenous retinal detachment | 1.000000e-07 |
| GCST005951_38 | Body mass index | 4.000000e-09 |
| GCST007515_18 | Type 2 diabetes | 8.000000e-08 |
| GCST007516_21 | Type 2 diabetes (adjusted for BMI) | 7.000000e-07 |
| GCST007517_2 | Type 2 diabetes | 6.000000e-08 |
| GCST007518_4 | Type 2 diabetes (adjusted for BMI) | 6.000000e-08 |
| GCST009379_32 | Type 2 diabetes | 4.000000e-06 |
| GCST009379_33 | Type 2 diabetes | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| afuresertib | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| gossypol acetic acid | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9KB | Ubigene HEK293 MINDY1 KO | Transformed cell line | Female |
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): rhegmatogenous retinal detachment