ZMYM4
geneOn this page
Also known as KIAA0425ZNF198L3MYM
Summary
ZMYM4 (zinc finger MYM-type containing 4, HGNC:13055) is a protein-coding gene on chromosome 1p34.3, encoding Zinc finger MYM-type protein 4 (Q5VZL5). Plays a role in the regulation of cell morphology and cytoskeletal organization.
Predicted to enable DNA binding activity. Involved in cytoskeleton organization and regulation of cell morphogenesis.
Source: NCBI Gene 9202 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 158 total
- MANE Select transcript:
NM_005095
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13055 |
| Approved symbol | ZMYM4 |
| Name | zinc finger MYM-type containing 4 |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0425, ZNF198L3, MYM |
| Ensembl gene | ENSG00000146463 |
| Ensembl biotype | protein_coding |
| OMIM | 613568 |
| Entrez | 9202 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000314607, ENST00000441447, ENST00000457946, ENST00000470175, ENST00000482131, ENST00000492456, ENST00000933224, ENST00000933225, ENST00000933226
RefSeq mRNA: 5 — MANE Select: NM_005095
NM_001350138, NM_001350139, NM_001350140, NM_001375653, NM_005095
CCDS: CCDS389
Canonical transcript exons
ENST00000314607 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000955938 | 35418443 | 35418572 |
| ENSE00001066906 | 35405023 | 35405194 |
| ENSE00001066912 | 35385442 | 35385592 |
| ENSE00001066914 | 35408008 | 35408159 |
| ENSE00001066919 | 35387003 | 35387278 |
| ENSE00001066928 | 35397377 | 35397545 |
| ENSE00001066929 | 35381546 | 35381758 |
| ENSE00001066931 | 35413972 | 35414083 |
| ENSE00001066932 | 35389948 | 35390098 |
| ENSE00001125229 | 35415466 | 35415714 |
| ENSE00001125276 | 35399482 | 35399576 |
| ENSE00001125285 | 35398864 | 35399043 |
| ENSE00001125294 | 35398413 | 35398466 |
| ENSE00001125330 | 35392647 | 35392684 |
| ENSE00001125338 | 35392212 | 35392352 |
| ENSE00001125352 | 35388910 | 35389082 |
| ENSE00001125375 | 35386074 | 35386189 |
| ENSE00001125401 | 35381259 | 35381433 |
| ENSE00001417767 | 35361619 | 35361789 |
| ENSE00001425567 | 35361194 | 35361255 |
| ENSE00001429123 | 35370372 | 35370627 |
| ENSE00001616388 | 35387454 | 35387604 |
| ENSE00001626559 | 35419470 | 35422058 |
| ENSE00001670766 | 35268709 | 35269085 |
| ENSE00001765619 | 35358925 | 35359446 |
| ENSE00003474598 | 35393595 | 35393739 |
| ENSE00003478009 | 35370029 | 35370113 |
| ENSE00003482654 | 35396552 | 35396670 |
| ENSE00003615141 | 35325360 | 35325405 |
| ENSE00003688215 | 35405373 | 35405468 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 96.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.4391 / max 204.9543, expressed in 1806 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2087 | 9.5358 | 1766 |
| 2090 | 3.0914 | 1341 |
| 2088 | 2.6797 | 1356 |
| 2094 | 1.1860 | 792 |
| 2089 | 0.8762 | 581 |
| 2097 | 0.8235 | 512 |
| 2096 | 0.6809 | 421 |
| 2100 | 0.4908 | 214 |
| 2093 | 0.3057 | 128 |
| 2095 | 0.2778 | 118 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.56 | gold quality |
| ventricular zone | UBERON:0003053 | 95.72 | gold quality |
| cortical plate | UBERON:0005343 | 93.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.69 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 93.34 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.09 | gold quality |
| embryo | UBERON:0000922 | 92.90 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.89 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.65 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.37 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.24 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.00 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.98 | gold quality |
| sperm | CL:0000019 | 91.88 | gold quality |
| caput epididymis | UBERON:0004358 | 91.73 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 91.71 | gold quality |
| male germ cell | CL:0000015 | 91.57 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.39 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.30 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.17 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.12 | gold quality |
| diaphragm | UBERON:0001103 | 90.93 | silver quality |
| oviduct epithelium | UBERON:0004804 | 90.91 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.58 | gold quality |
| parietal pleura | UBERON:0002400 | 90.38 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.38 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.17 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.06 | gold quality |
| pons | UBERON:0000988 | 90.03 | gold quality |
| biceps brachii | UBERON:0001507 | 90.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
173 targeting ZMYM4, 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-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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| 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-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
Literature-anchored findings (GeneRIF, showing 3)
- regulates apoptosis by altering mRNA turnover and CDIR inhibits apoptosis by acting as a competitive inhibitor of AUF1, preventing AUF1 from binding to its targets (PMID:12356764)
- Characterization of the zinc finger proteins ZMYM2 and ZMYM4 as novel B-MYB binding proteins. (PMID:32439918)
- Expression and Mutation Alterations of ZMYM4 Gene in Gastric and Colonic Cancers. (PMID:33938481)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zmym4 | ENSMUSG00000042446 |
| rattus_norvegicus | Zmym4 | ENSRNOG00000012397 |
Paralogs (18): GTF2IRD1 (ENSG00000006704), ZMYM2 (ENSG00000121741), ZMYM5 (ENSG00000132950), THAP12 (ENSG00000137492), ZMYM3 (ENSG00000147130), ZMYM6 (ENSG00000163867), KIAA1958 (ENSG00000165185), GTF2IRD2B (ENSG00000174428), EPM2AIP1 (ENSG00000178567), GTF2IRD2 (ENSG00000196275), ZMYM1 (ENSG00000197056), QRICH1 (ENSG00000198218), FAM200C (ENSG00000221886), FAM200A (ENSG00000221909), SCAND3 (ENSG00000232040), ZBED5 (ENSG00000236287), FAM200B (ENSG00000237765), GTF2I (ENSG00000263001)
Protein
Protein identifiers
Zinc finger MYM-type protein 4 — Q5VZL5 (reviewed: Q5VZL5)
Alternative names: Zinc finger protein 262
All UniProt accessions (3): Q5VZL5, A0A0A0MSN3, H7C1I7
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of cell morphology and cytoskeletal organization.
Tissue specificity. Expressed at higher level in heart, skeletal muscle, kidney and liver.
Miscellaneous. The 3’-UTR region of the mRNA encoding this protein contains a motif called CDIR (for cell death inhibiting RNA) that binds HNRPD/AUF1 and HSPB1/HSP27. It is able to inhibit interferon-gamma induced apoptosis.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VZL5-1 | 1 | yes |
| Q5VZL5-2 | 2 | |
| Q5VZL5-3 | 3 | |
| Q5VZL5-4 | 4 |
RefSeq proteins (5): NP_001337067, NP_001337068, NP_001337069, NP_001362582, NP_005086* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010507 | Znf_MYM | Domain |
| IPR011017 | TRASH_dom | Domain |
| IPR021893 | ZMYM2-like_C | Domain |
| IPR051284 | ZnF_MYMT-QRICH1 | Family |
| IPR057926 | QRICH1_dom | Domain |
Pfam: PF06467, PF12012, PF24900, PF25561
UniProt features (58 total): cross-link 20, modified residue 15, zinc finger region 9, region of interest 3, compositionally biased region 3, splice variant 3, sequence variant 2, initiator methionine 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VZL5-F1 | 59.70 | 0.21 |
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 (35): 2, 107, 110, 122, 162, 197, 242, 1030, 1064, 1071, 1181, 1256, 1539, 1542, 1547, 140, 149, 195, 201, 232 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 180 (showing top):
GOBP_REGULATION_OF_CELL_MORPHOGENESIS, TGCGCANK_UNKNOWN, GCANCTGNY_MYOD_Q6, MORF_HDAC2, CAGCTG_AP4_Q5, CATTTCA_MIR203, MYOD_01, MARTINEZ_RB1_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, HEN1_01, chr1p34, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GATA1_03, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, AACTTT_UNKNOWN
GO Biological Process (2): cytoskeleton organization (GO:0007010), regulation of cell morphogenesis (GO:0022604)
GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle organization | 1 |
| cell morphogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
Protein interactions and networks
STRING
1950 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZMYM4 | RCOR1 | Q9UKL0 | 633 |
| ZMYM4 | KDM1A | O60341 | 498 |
| ZMYM4 | UFSP2 | Q9NUQ7 | 489 |
| ZMYM4 | FGFR1 | P11362 | 471 |
| ZMYM4 | FKBP9 | O95302 | 453 |
| ZMYM4 | TMEM35B | Q8NCS4 | 449 |
| ZMYM4 | SGSM3 | Q96HU1 | 443 |
| ZMYM4 | CHMP7 | Q8WUX9 | 433 |
| ZMYM4 | NUBPL | Q8TB37 | 431 |
| ZMYM4 | OTUD3 | Q5T2D3 | 431 |
| ZMYM4 | DTYMK | P23919 | 420 |
| ZMYM4 | RNASEH2B | Q5TBB1 | 417 |
| ZMYM4 | ATF7IP | Q6VMQ6 | 412 |
| ZMYM4 | SUMO2 | P55855 | 394 |
| ZMYM4 | HDAC1 | Q13547 | 391 |
| ZMYM4 | DENND5B | Q6ZUT9 | 391 |
IntAct
190 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| ZSCAN21 | ZNF24 | psi-mi:“MI:0914”(association) | 0.830 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| RHOC | RAP1GDS1 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| QPRT | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF397 | ZNF213 | psi-mi:“MI:0914”(association) | 0.640 |
| ZMYM4 | ROR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMYM4 | CTCF | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNX1T1 | ZMYM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMYM4 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | ZMYM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMYM4 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMYM4 | RUNX1T1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (224): ZMYM4 (Two-hybrid), ZMYM4 (Two-hybrid), ZMYM4 (Two-hybrid), CTCF (Two-hybrid), UBQLN1 (Two-hybrid), ZMYM4 (Affinity Capture-RNA), ZMYM4 (Affinity Capture-RNA), ZMYM4 (Protein-peptide), ZMYM4 (Affinity Capture-MS), ZMYM4 (Reconstituted Complex), ZMYM4 (Affinity Capture-MS), ZMYM4 (Affinity Capture-MS), ZMYM4 (Affinity Capture-MS), ZMYM4 (Co-fractionation), ZMYM4 (Co-fractionation)
ESM2 similar proteins: A0A1L8GR68, A2A791, B2GUN4, E1BP74, E1BZ85, F1QLG5, F7AQ22, O00472, O15164, O15550, O70546, O88974, O95789, P49140, P55265, P70365, Q14202, Q14596, Q15047, Q15788, Q4PJW2, Q5R413, Q5RC94, Q5RDJ2, Q5VZL5, Q64127, Q69Z66, Q6H8Q1, Q6KC51, Q6NXK2, Q6P3Y5, Q6PFK1, Q7Z3K3, Q8BJ34, Q8BL65, Q8BZH4, Q8CHY6, Q8IZD4, Q8TEW8, Q8VIG2
Diamond homologs: A2A791, A6QPH9, O95789, Q0P5J0, Q14202, Q2TAL8, Q3U2E2, Q3UA37, Q4R3D6, Q5RDJ2, Q5SVZ6, Q5VZL5, Q9CU65, Q9JLM4, Q9UBW7, Q9UJ78, A4Z943, A4Z944, A4Z945, P0CF97, Q49AG3, Q4R6P1, Q6R2W3, Q8IZ13, Q8TCP9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 232 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 |
|---|---|---|---|
| Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane | 5 | 17.4× | 6e-04 |
| Transport of connexons to the plasma membrane | 5 | 17.4× | 6e-04 |
| Formation of tubulin folding intermediates by CCT/TriC | 6 | 16.3× | 3e-04 |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 6 | 15.7× | 3e-04 |
| Gap junction trafficking and regulation | 5 | 15.2× | 7e-04 |
| Gap junction trafficking | 5 | 15.2× | 7e-04 |
| Post-chaperonin tubulin folding pathway | 5 | 15.2× | 7e-04 |
| Prefoldin mediated transfer of substrate to CCT/TriC | 6 | 15.2× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA processing | 12 | 4.5× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
158 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 122 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5488 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:35269082:GAGG:G | donor_gain | 1.0000 |
| 1:35269084:GG:G | donor_gain | 1.0000 |
| 1:35269085:GG:G | donor_gain | 1.0000 |
| 1:35269085:GGTA:G | donor_loss | 1.0000 |
| 1:35269086:G:GG | donor_gain | 1.0000 |
| 1:35269087:T:A | donor_loss | 1.0000 |
| 1:35325358:A:AG | acceptor_gain | 1.0000 |
| 1:35325359:G:GA | acceptor_gain | 1.0000 |
| 1:35325359:GT:G | acceptor_gain | 1.0000 |
| 1:35325359:GTTT:G | acceptor_gain | 1.0000 |
| 1:35325401:GAACT:G | donor_gain | 1.0000 |
| 1:35325402:AACT:A | donor_gain | 1.0000 |
| 1:35325403:ACT:A | donor_gain | 1.0000 |
| 1:35325404:CT:C | donor_gain | 1.0000 |
| 1:35325406:G:GG | donor_gain | 1.0000 |
| 1:35358922:AAGGT:A | acceptor_gain | 1.0000 |
| 1:35359119:GATT:G | donor_gain | 1.0000 |
| 1:35359173:G:GT | donor_gain | 1.0000 |
| 1:35361254:GG:G | donor_gain | 1.0000 |
| 1:35361255:GG:G | donor_gain | 1.0000 |
| 1:35361614:TTTA:T | acceptor_loss | 1.0000 |
| 1:35361616:TA:T | acceptor_loss | 1.0000 |
| 1:35361617:A:AG | acceptor_gain | 1.0000 |
| 1:35361617:A:C | acceptor_loss | 1.0000 |
| 1:35361617:AG:A | acceptor_gain | 1.0000 |
| 1:35361618:G:GG | acceptor_gain | 1.0000 |
| 1:35361618:GG:G | acceptor_gain | 1.0000 |
| 1:35361712:GATGA:G | donor_gain | 1.0000 |
| 1:35361716:A:G | donor_gain | 1.0000 |
| 1:35361748:GGAC:G | donor_gain | 1.0000 |
AlphaMissense
10250 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:35370078:T:A | I297N | 1.000 |
| 1:35370078:T:C | I297T | 1.000 |
| 1:35370078:T:G | I297S | 1.000 |
| 1:35370087:T:A | V300E | 1.000 |
| 1:35370089:T:C | F301L | 1.000 |
| 1:35370091:T:A | F301L | 1.000 |
| 1:35370091:T:G | F301L | 1.000 |
| 1:35370467:T:A | C341S | 1.000 |
| 1:35370467:T:C | C341R | 1.000 |
| 1:35370467:T:G | C341G | 1.000 |
| 1:35370468:G:A | C341Y | 1.000 |
| 1:35370468:G:C | C341S | 1.000 |
| 1:35370468:G:T | C341F | 1.000 |
| 1:35370469:T:G | C341W | 1.000 |
| 1:35370476:T:A | C344S | 1.000 |
| 1:35370476:T:C | C344R | 1.000 |
| 1:35370477:G:A | C344Y | 1.000 |
| 1:35370477:G:C | C344S | 1.000 |
| 1:35370477:G:T | C344F | 1.000 |
| 1:35370478:T:G | C344W | 1.000 |
| 1:35370489:T:A | L348H | 1.000 |
| 1:35370489:T:C | L348P | 1.000 |
| 1:35370497:G:A | G351R | 1.000 |
| 1:35370497:G:C | G351R | 1.000 |
| 1:35370498:G:A | G351E | 1.000 |
| 1:35370501:A:C | Q352P | 1.000 |
| 1:35370507:C:A | A354D | 1.000 |
| 1:35370509:T:A | Y355N | 1.000 |
| 1:35370509:T:C | Y355H | 1.000 |
| 1:35370509:T:G | Y355D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000642 (1:35269374 G>A), RS1000003586 (1:35417251 AAAAG>A,AAAAGAAAG), RS1000030174 (1:35388550 T>C), RS1000032644 (1:35282589 T>C), RS1000037998 (1:35410791 A>C,G), RS1000044025 (1:35379248 G>A), RS1000058138 (1:35372670 AT>A), RS1000069890 (1:35388181 A>C,G), RS1000100263 (1:35302552 A>G,T), RS1000104423 (1:35294489 G>A,C), RS1000107211 (1:35345484 C>T), RS1000139548 (1:35322131 A>G,T), RS1000162754 (1:35333054 C>T), RS1000172022 (1:35347715 G>A), RS1000175353 (1:35376497 G>A)
Disease associations
OMIM: gene MIM:613568 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_28 | Night sleep phenotypes | 8.000000e-08 |
| GCST005038_30 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-08 |
| GCST90002394_132 | Monocyte percentage of white cells | 2.000000e-13 |
| GCST90020024_12 | A body shape index | 5.000000e-08 |
| GCST90020029_1255 | Waist circumference adjusted for body mass index | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 4 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases 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, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1661 | ZR-75-30 | Cancer cell line | Female |
| CVCL_C7Z8 | HAP1 ZMYM4 (-) 1 | Cancer cell line | Male |
| CVCL_C7Z9 | HAP1 ZMYM4 (-) 2 | Cancer cell line | Male |
| CVCL_C7ZA | HAP1 ZMYM4 (-) 3 | Cancer cell line | Male |
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): allergic disease