DMKN
gene geneOn this page
Also known as ZD52F10
Summary
DMKN (dermokine, HGNC:25063) is a protein-coding gene on chromosome 19q13.12, encoding Dermokine (Q6E0U4). May act as a soluble regulator of keratinocyte differentiation.
This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
Source: NCBI Gene 93099 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_033317
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25063 |
| Approved symbol | DMKN |
| Name | dermokine |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZD52F10 |
| Ensembl gene | ENSG00000161249 |
| Ensembl biotype | protein_coding |
| OMIM | 617211 |
| Entrez | 93099 |
Gene structure
Transcript identifiers
Ensembl transcripts: 70 — 29 protein_coding, 20 nonsense_mediated_decay, 17 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000339686, ENST00000392206, ENST00000402589, ENST00000408915, ENST00000414866, ENST00000418261, ENST00000419602, ENST00000424570, ENST00000429837, ENST00000434389, ENST00000436012, ENST00000443640, ENST00000447113, ENST00000450261, ENST00000451297, ENST00000458071, ENST00000460051, ENST00000460327, ENST00000461300, ENST00000462126, ENST00000462538, ENST00000462721, ENST00000463292, ENST00000464709, ENST00000464894, ENST00000465927, ENST00000466587, ENST00000467532, ENST00000467637, ENST00000469960, ENST00000470746, ENST00000470857, ENST00000470964, ENST00000471017, ENST00000471786, ENST00000472065, ENST00000472252, ENST00000472365, ENST00000474928, ENST00000474992, ENST00000476051, ENST00000476246, ENST00000478648, ENST00000480502, ENST00000480507, ENST00000482321, ENST00000483855, ENST00000484064, ENST00000486450, ENST00000486756, ENST00000488542, ENST00000488762, ENST00000488892, ENST00000489395, ENST00000490622, ENST00000492341, ENST00000493517, ENST00000493979, ENST00000498211, ENST00000498269, ENST00000498593, ENST00000593342, ENST00000595571, ENST00000597212, ENST00000601368, ENST00000601650, ENST00000602679, ENST00000602781, ENST00000875014, ENST00000933306
RefSeq mRNA: 16 — MANE Select: NM_033317
NM_001035516, NM_001126056, NM_001126057, NM_001126058, NM_001126059, NM_001190347, NM_001190348, NM_001190349, NM_001308380, NM_001308383, NM_001352328, NM_001352329, NM_001352330, NM_001352331, NM_001352332, NM_033317
CCDS: CCDS12463, CCDS42549, CCDS46051, CCDS46052, CCDS46053, CCDS46054, CCDS54250, CCDS54251, CCDS54252, CCDS77278, CCDS77279, CCDS86745, CCDS86746, CCDS86747
Canonical transcript exons
ENST00000339686 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001335243 | 35511411 | 35511593 |
| ENSE00001335246 | 35511763 | 35511813 |
| ENSE00001335248 | 35512421 | 35512477 |
| ENSE00001335251 | 35512590 | 35512790 |
| ENSE00001800459 | 35497220 | 35497538 |
| ENSE00001841631 | 35513050 | 35513649 |
| ENSE00003586457 | 35509911 | 35509961 |
| ENSE00003616984 | 35505939 | 35505986 |
| ENSE00003625285 | 35510184 | 35510252 |
| ENSE00003694860 | 35502136 | 35502183 |
| ENSE00003696291 | 35499958 | 35500029 |
| ENSE00003698363 | 35498874 | 35498897 |
| ENSE00003698986 | 35500533 | 35500580 |
| ENSE00003699523 | 35505718 | 35505765 |
| ENSE00003701374 | 35498716 | 35498763 |
| ENSE00003702424 | 35502830 | 35502886 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 99.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.2217 / max 5629.2164, expressed in 1141 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180527 | 31.7189 | 822 |
| 180524 | 8.7776 | 229 |
| 180530 | 3.7420 | 329 |
| 180528 | 2.4786 | 689 |
| 180531 | 1.9767 | 401 |
| 180526 | 1.4288 | 514 |
| 180529 | 0.8168 | 496 |
| 180525 | 0.2824 | 182 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 99.94 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.85 | gold quality |
| upper leg skin | UBERON:0004262 | 99.78 | gold quality |
| zone of skin | UBERON:0000014 | 99.71 | gold quality |
| skin of leg | UBERON:0001511 | 99.70 | gold quality |
| nipple | UBERON:0002030 | 99.57 | gold quality |
| right uterine tube | UBERON:0001302 | 99.54 | gold quality |
| skin of hip | UBERON:0001554 | 99.47 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.44 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.41 | gold quality |
| penis | UBERON:0000989 | 99.39 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.13 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.05 | gold quality |
| body of pancreas | UBERON:0001150 | 98.67 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.65 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.44 | gold quality |
| thyroid gland | UBERON:0002046 | 98.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.13 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.04 | gold quality |
| gingiva | UBERON:0001828 | 98.02 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.57 | gold quality |
| left ovary | UBERON:0002119 | 97.30 | gold quality |
| pituitary gland | UBERON:0000007 | 96.91 | gold quality |
| pancreas | UBERON:0001264 | 96.23 | gold quality |
| right lung | UBERON:0002167 | 96.13 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.13 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.94 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.75 | gold quality |
| right ovary | UBERON:0002118 | 95.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.19 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 6846.88 |
| E-HCAD-11 | yes | 1791.81 |
| E-MTAB-8271 | yes | 291.86 |
| E-MTAB-7249 | yes | 226.11 |
| E-MTAB-8205 | yes | 211.68 |
| E-MTAB-11121 | yes | 185.44 |
| E-MTAB-10287 | yes | 52.17 |
| E-HCAD-10 | yes | 27.48 |
| E-HCAD-1 | yes | 25.74 |
| E-MTAB-6701 | yes | 22.11 |
| E-MTAB-10596 | no | 1548.15 |
| E-CURD-53 | no | 364.05 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF
miRNA regulators (miRDB)
25 targeting DMKN, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-4501 | 98.72 | 67.19 | 921 |
| HSA-MIR-11399 | 98.71 | 65.69 | 869 |
| HSA-MIR-138-5P | 98.43 | 70.49 | 1292 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-3135A | 96.41 | 65.30 | 494 |
| HSA-MIR-6727-5P | 92.41 | 61.98 | 83 |
Literature-anchored findings (GeneRIF, showing 7)
- Analysis of alternative spliced transcripts produced from the dermokine gene. (PMID:16374476)
- Dermokine gene is expressed in epithelial tissues other than the skin and this expression is transcriptionally and posttranscriptionally complex. (PMID:17380110)
- Dmkndelta activates Rab5 function and thus is involved in the early endosomal trafficking. (PMID:21423773)
- Dermokine-beta impairs ERK signaling through direct binding to GRP78 (PMID:22735594)
- Serum DK is a potential biomarker in intraductal papillary mucinous neoplasm and invasive ductal carcinoma, when used in combination with conventional biomarkers. (PMID:23060565)
- These results suggest that dermokine-beta delays early cutaneous wound healing in part by inhibiting expression of CXC chemokines containing the ERL-sequence motif. (PMID:23428944)
- we showed that DMKN loss of function in Patu-8988 and PANC-1 pancreatic cancer cell lines resulted in reduced phosphorylation of STAT3.these data suggested that DMKN could be a potential prognostic biomarker and therapeutic target in pancreatic cancer. (PMID:28795470)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dmkn | ENSMUSG00000060962 |
| rattus_norvegicus | Dmkn | ENSRNOG00000055934 |
Protein
Protein identifiers
Dermokine — Q6E0U4 (reviewed: Q6E0U4)
Alternative names: Epidermis-specific secreted protein SK30/SK89
All UniProt accessions (19): A3EZ84, C9IYI1, C9J186, C9J3V3, C9JCN1, Q6E0U4, E7EMS7, E9PAQ7, H7BZ95, M0QZU6, M0R0A5, M0R0W2, M0R1M0, M0R265, M0R3F8, R4GMQ0, S4R2X7, S4R3L7, S4R427
UniProt curated annotations — full annotation on UniProt →
Function. May act as a soluble regulator of keratinocyte differentiation.
Subunit / interactions. Homooligomer. Seems to be able to homodimerize and homotrimerize.
Subcellular location. Secreted.
Tissue specificity. Expressed in epidermis; in the spinous and granular layers and in placenta. Also found in the epithelia of the small intestine, macrophages of the lung and endothelial cells of the lung. Isoform 15 is expressed in epidermis and placenta. Isoform 1 is expressed in epidermis.
Post-translational modifications. O-glycosylated.
Similarity. Belongs to the dermokine family.
Isoforms (16)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6E0U4-1 | 1, Dermokine beta | yes |
| Q6E0U4-2 | 2, Dermokine beta-2 | |
| Q6E0U4-3 | 3, Dermokine-gamma 1, Dermokine gamma-2 | |
| Q6E0U4-4 | 4, Dermokine beta-1 | |
| Q6E0U4-5 | 5, Dermokine gamma-2 | |
| Q6E0U4-6 | 6 | |
| Q6E0U4-7 | 7, Dermokine gamma-1 | |
| Q6E0U4-8 | 8, Dermokine delta | |
| Q6E0U4-9 | 9, Dermokine-delta-4 | |
| Q6E0U4-10 | 10, Dermokine-delta-1 | |
| Q6E0U4-11 | 11, Dermokine-delta-3 | |
| Q6E0U4-12 | 12, Dermokine-delta-2 | |
| Q6E0U4-13 | 13, Dermokine-delta-6 | |
| Q6E0U4-14 | 14, Dermokine-delta-5 | |
| Q6E0U4-15 | 15, Dermokine-alpha | |
| Q6E0U4-16 | 16 |
RefSeq proteins (16): NP_001030593, NP_001119528, NP_001119529, NP_001119530, NP_001119531, NP_001177276, NP_001177277, NP_001177278, NP_001295309, NP_001295312, NP_001339257, NP_001339258, NP_001339259, NP_001339260, NP_001339261, NP_201574* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033541 | Dermokine | Family |
UniProt features (46 total): splice variant 21, sequence conflict 8, sequence variant 7, compositionally biased region 6, signal peptide 1, chain 1, region of interest 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4F20 | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6E0U4-F1 | 42.31 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9725554 | Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin |
MSigDB gene sets: 103 (showing top):
GOBP_MEMBRANE_BIOGENESIS, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GGGTGGRR_PAX4_03, CHANG_IMMORTALIZED_BY_HPV31_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, LIAO_METASTASIS, TGANTCA_AP1_C, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, FUJII_YBX1_TARGETS_DN, AIGNER_ZEB1_TARGETS, GOBP_MEMBRANE_ORGANIZATION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, SENESE_HDAC3_TARGETS_DN
GO Biological Process (1): cornified envelope assembly (GO:1903575)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Cell Lineages of the Integumentary System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-glutamine gamma-glutamyltransferase activity | 1 |
| plasma membrane organization | 1 |
| membrane assembly | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
844 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DMKN | SBSN | Q6UWP8 | 683 |
| DMKN | KRTDAP | P60985 | 620 |
| DMKN | CDSN | Q15517 | 422 |
| DMKN | MYH14 | Q7Z406 | 418 |
| DMKN | KRT5 | P13647 | 417 |
| DMKN | TCF20 | Q9UGU0 | 378 |
| DMKN | KRT1 | P04264 | 376 |
| DMKN | PMS2P11 | Q13670 | 334 |
| DMKN | IFFO2 | Q5TF58 | 324 |
| DMKN | PRELID2 | Q8N945 | 317 |
| DMKN | FBXW12 | Q6X9E4 | 312 |
| DMKN | KRT10 | P13645 | 305 |
| DMKN | KLK8 | O60259 | 305 |
| DMKN | CNFN | Q9BYD5 | 302 |
| DMKN | GPR15LG | Q6UWK7 | 299 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCNC | MED19 | psi-mi:“MI:0914”(association) | 0.640 |
| DMKN | HSPA5 | psi-mi:“MI:0915”(physical association) | 0.600 |
| HSPA5 | DMKN | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| DMKN | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DMKN | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGTA | DMKN | psi-mi:“MI:0915”(physical association) | 0.560 |
| DMKN | SGTB | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG6 | DMKN | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAD2 | DMKN | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN12 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| DMKN | GOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FOXD4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| ARAF | psi-mi:“MI:0914”(association) | 0.350 | |
| FCF1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SSUH2 | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| C18orf21 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC19 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6AP2 | KLK10 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L11 | CTSV | psi-mi:“MI:0914”(association) | 0.350 |
| GPM6A | SERPINA1 | psi-mi:“MI:0914”(association) | 0.350 |
| S1PR4 | ECD | psi-mi:“MI:0914”(association) | 0.350 |
| SMPD2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| GATA2 | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| DMKN | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DMKN | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| BAG6 | DMKN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (27): DMKN (Affinity Capture-MS), DMKN (Affinity Capture-MS), DMKN (Affinity Capture-MS), DMKN (Affinity Capture-MS), DMKN (Affinity Capture-MS), DMKN (Affinity Capture-MS), DMKN (Affinity Capture-MS), DMKN (Two-hybrid), DMKN (Two-hybrid), DMKN (Two-hybrid), UBQLN2 (Two-hybrid), SGTB (Two-hybrid), BAG6 (Two-hybrid), DMKN (Affinity Capture-RNA), DMKN (Affinity Capture-MS)
ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9
Diamond homologs: A2VE23, Q6E0U4, Q6P253
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 5 | 31.2× | 7e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3092 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:35505733:C:A | W373C | 0.986 |
| 19:35505733:C:G | W373C | 0.986 |
| 19:35502151:C:A | W408C | 0.983 |
| 19:35502151:C:G | W408C | 0.983 |
| 19:35502175:T:A | K400N | 0.983 |
| 19:35502175:T:G | K400N | 0.983 |
| 19:35505742:G:C | F370L | 0.982 |
| 19:35505742:G:T | F370L | 0.982 |
| 19:35505744:A:G | F370L | 0.982 |
| 19:35502153:A:G | W408R | 0.972 |
| 19:35502153:A:T | W408R | 0.972 |
| 19:35505735:A:G | W373R | 0.971 |
| 19:35505735:A:T | W373R | 0.971 |
| 19:35502833:C:A | W396C | 0.967 |
| 19:35502833:C:G | W396C | 0.967 |
| 19:35505757:T:A | K365N | 0.963 |
| 19:35505757:T:G | K365N | 0.963 |
| 19:35502160:G:C | F405L | 0.961 |
| 19:35502160:G:T | F405L | 0.961 |
| 19:35502162:A:G | F405L | 0.961 |
| 19:35502179:A:G | F399S | 0.955 |
| 19:35505942:C:A | W361C | 0.953 |
| 19:35505942:C:G | W361C | 0.953 |
| 19:35502178:G:C | F399L | 0.951 |
| 19:35502178:G:T | F399L | 0.951 |
| 19:35502180:A:G | F399L | 0.951 |
| 19:35498731:C:A | W472C | 0.946 |
| 19:35498731:C:G | W472C | 0.946 |
| 19:35502835:A:G | W396R | 0.946 |
| 19:35502835:A:T | W396R | 0.946 |
dbSNP variants (sampled 300 via entrez): RS1000069130 (19:35508695 C>G,T), RS1000884190 (19:35509538 C>T), RS1000953684 (19:35515197 C>A), RS1001015825 (19:35503766 G>A), RS1001080972 (19:35509818 G>A,C,T), RS1001129286 (19:35503445 G>A), RS1001511839 (19:35505787 G>A,T), RS1001742072 (19:35511319 C>G,T), RS1001963534 (19:35500709 G>A), RS1002215971 (19:35514643 A>G), RS1002456544 (19:35514810 C>G,T), RS1002763014 (19:35515224 T>C), RS1002887187 (19:35512088 C>T), RS1002896120 (19:35499855 C>T), RS1003086890 (19:35512268 G>A)
Disease associations
OMIM: gene MIM:617211 | 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 |
|---|---|---|
| GCST008161_4 | Waist circumference adjusted for body mass index | 6.000000e-07 |
| GCST008764_6 | Perceived intensity of neohesperidin dihydrochalcone | 8.000000e-06 |
| GCST009302_16 | Antipsychotic drug-induced weight gain in schizophrenia | 6.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004567 | antipsychotic drug related weight gain |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, decreases methylation, affects cotreatment, increases abundance, increases expression | 4 |
| Valproic Acid | affects expression, decreases expression, increases expression, increases methylation | 4 |
| Resveratrol | increases expression, affects cotreatment, decreases expression | 3 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| perfluorooctane sulfonic acid | increases expression | 2 |
| Arsenic | increases abundance, affects cotreatment, decreases expression | 2 |
| Dexamethasone | increases expression, affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Aflatoxin B1 | decreases expression, increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | decreases expression, affects cotreatment | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment | 1 |
| trichostatin A | affects cotreatment, decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | 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 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases 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.