MORC4
geneOn this page
Also known as ZCW4FLJ11565
Summary
MORC4 (MORC family CW-type zinc finger 4, HGNC:23485) is a protein-coding gene on chromosome Xq22.3, encoding MORC family CW-type zinc finger protein 4 (Q8TE76). Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) ‘Lys-4’ on histone H3.
In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins.
Source: NCBI Gene 79710 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 298 total
- MANE Select transcript:
NM_024657
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23485 |
| Approved symbol | MORC4 |
| Name | MORC family CW-type zinc finger 4 |
| Location | Xq22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZCW4, FLJ11565 |
| Ensembl gene | ENSG00000133131 |
| Ensembl biotype | protein_coding |
| OMIM | 300970 |
| Entrez | 79710 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000255495, ENST00000355610, ENST00000478924, ENST00000604604, ENST00000904924, ENST00000966192, ENST00000966193
RefSeq mRNA: 2 — MANE Select: NM_024657
NM_001085354, NM_024657
CCDS: CCDS14525, CCDS48146
Canonical transcript exons
ENST00000355610 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000907938 | 106954913 | 106955088 |
| ENSE00000907939 | 106942515 | 106943205 |
| ENSE00000907940 | 106941938 | 106942221 |
| ENSE00001039098 | 106956480 | 106956534 |
| ENSE00001039099 | 106958336 | 106958464 |
| ENSE00001039101 | 106978080 | 106978199 |
| ENSE00001039103 | 106976584 | 106976684 |
| ENSE00001039105 | 106962012 | 106962110 |
| ENSE00001039108 | 106956936 | 106957004 |
| ENSE00001039111 | 106980891 | 106981019 |
| ENSE00001680547 | 106985983 | 106986200 |
| ENSE00001724793 | 106940738 | 106941632 |
| ENSE00001778066 | 106985096 | 106985243 |
| ENSE00003546510 | 106999868 | 107000212 |
| ENSE00003573849 | 106981345 | 106981477 |
| ENSE00003575921 | 106999677 | 106999749 |
| ENSE00003672007 | 106993230 | 106993362 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 98.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1456 / max 147.6013, expressed in 1541 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200053 | 5.1253 | 1393 |
| 200054 | 1.9679 | 1100 |
| 200049 | 0.7827 | 482 |
| 200050 | 0.5910 | 364 |
| 200051 | 0.3328 | 179 |
| 200052 | 0.1840 | 59 |
| 200047 | 0.0871 | 28 |
| 200048 | 0.0747 | 22 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| colonic epithelium | UBERON:0000397 | 98.13 | gold quality |
| placenta | UBERON:0001987 | 96.78 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.81 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.72 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.15 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.12 | gold quality |
| adrenal gland | UBERON:0002369 | 89.77 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.56 | gold quality |
| adrenal cortex | UBERON:0001235 | 89.43 | gold quality |
| sural nerve | UBERON:0015488 | 88.85 | gold quality |
| tendon | UBERON:0000043 | 88.58 | gold quality |
| synovial joint | UBERON:0002217 | 86.97 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.61 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.97 | gold quality |
| body of pancreas | UBERON:0001150 | 85.67 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.37 | gold quality |
| seminal vesicle | UBERON:0000998 | 85.37 | gold quality |
| skin of hip | UBERON:0001554 | 85.25 | gold quality |
| cartilage tissue | UBERON:0002418 | 85.08 | gold quality |
| ovary | UBERON:0000992 | 84.92 | gold quality |
| ventricular zone | UBERON:0003053 | 84.85 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.55 | gold quality |
| corpus epididymis | UBERON:0004359 | 84.50 | gold quality |
| parietal pleura | UBERON:0002400 | 84.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.35 | gold quality |
| left ovary | UBERON:0002119 | 84.02 | gold quality |
| pancreas | UBERON:0001264 | 83.73 | gold quality |
| vagina | UBERON:0000996 | 83.63 | gold quality |
| skin of leg | UBERON:0001511 | 83.55 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-89232 | yes | 8819.65 |
| E-MTAB-8205 | yes | 583.67 |
| E-MTAB-5061 | yes | 435.25 |
| E-MTAB-6701 | yes | 117.61 |
| E-CURD-122 | yes | 19.62 |
| E-MTAB-9388 | yes | 10.90 |
| E-GEOD-137537 | yes | 6.34 |
| E-ANND-3 | yes | 5.64 |
| E-HCAD-56 | no | 882.86 |
| E-ENAD-27 | no | 465.71 |
| E-GEOD-81608 | no | 428.43 |
| E-ENAD-20 | no | 398.84 |
| E-GEOD-70580 | no | 238.29 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting MORC4, 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-4510 | 100.00 | 66.60 | 2050 |
| 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-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| 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-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
Literature-anchored findings (GeneRIF, showing 7)
- Findings suggest that a variant of the CLDN2-MORC4 region predisposes to Crohn’s disease in a Swedish population. (PMID:23946598)
- Single nucleotide polymorphism is a risk factor developing chronic alcoholic pancreatitis. (PMID:25253127)
- Genetic variants in CLDN2 and MORC4 genes were associated with chronic pancreatitis in Indian patients. (PMID:26820620)
- Genetic variation in MORC4, CD14, and TLR4 may affect the outcome of allogeneic stem cell transplantation. (PMID:26827181)
- SNP in the MORC4-rs 12837024 is associated with Chronic pancreatitis. (PMID:28913878)
- These results identified MORC4 as differentially expressed in breast cancer cells and tissues and its downregulation by miR-193b-3p, as well as its roles in regulating the growth of breast cancer cells via regulation of apoptosis. (PMID:30320920)
- MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo. (PMID:36932196)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | morc3b | ENSDARG00000043271 |
| danio_rerio | morc3a | ENSDARG00000056679 |
| danio_rerio | zgc:152774 | ENSDARG00000104408 |
| mus_musculus | Morc4 | ENSMUSG00000031434 |
| rattus_norvegicus | Morc4 | ENSRNOG00000060846 |
Paralogs (1): MORC3 (ENSG00000159256)
Protein
Protein identifiers
MORC family CW-type zinc finger protein 4 — Q8TE76 (reviewed: Q8TE76)
Alternative names: Zinc finger CW-type coiled-coil domain protein 2, Zinc finger CW-type domain protein 4
All UniProt accessions (2): Q8TE76, S4R3U3
UniProt curated annotations — full annotation on UniProt →
Function. Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) ‘Lys-4’ on histone H3. The order of binding preference is H3K4me3 > H3K4me2 > H3K4me1 > H3K4me0.
Subcellular location. Nucleus.
Tissue specificity. Expressed at low levels in normal tissues, with highest expression levels in placenta and testis. Expression is significantly increased in subset of diffuse large B-cell lymphomas.
Domain organisation. The CW-TYPE zinc finger mediates its binding to trimethylated histone H3K4me3.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TE76-1 | 1 | yes |
| Q8TE76-2 | 2 | |
| Q8TE76-3 | 3 |
RefSeq proteins (2): NP_001078823, NP_078933* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011124 | Znf_CW | Domain |
| IPR036890 | HATPase_C_sf | Homologous_superfamily |
| IPR041006 | Morc_S5 | Domain |
| IPR045261 | MORC_ATPase | Family |
Pfam: PF07496, PF13589, PF17942
UniProt features (48 total): strand 18, helix 12, binding site 4, sequence conflict 3, turn 3, sequence variant 2, splice variant 2, chain 1, zinc finger region 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7K7T | X-RAY DIFFRACTION | 2.94 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TE76-F1 | 68.48 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 429; 432; 453; 464
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
AAGCAAT_MIR137, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TGGNNNNNNKCCAR_UNKNOWN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GATA1_02, SOX5_01, MEF2_Q6_01, TGCCTTA_MIR124A
GO Biological Process (1): chromatin organization (GO:0006325)
GO Molecular Function (5): zinc ion binding (GO:0008270), ATP hydrolysis activity (GO:0016887), histone H3K4me3 reader activity (GO:0140002), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular component organization | 1 |
| transition metal ion binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| ATP-dependent activity | 1 |
| histone H3 reader activity | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
386 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MORC4 | PRSS2 | P07478 | 577 |
| MORC4 | CLDN2 | P57739 | 545 |
| MORC4 | PRSS1 | P07477 | 542 |
| MORC4 | PRSS58 | Q8IYP2 | 511 |
| MORC4 | TYW2 | Q53H54 | 451 |
| MORC4 | H3-3A | P06351 | 429 |
| MORC4 | H3C14 | Q71DI3 | 429 |
| MORC4 | H3-5 | Q6NXT2 | 429 |
| MORC4 | H3C1 | P02295 | 429 |
| MORC4 | H3-4 | Q16695 | 429 |
| MORC4 | H3-7 | Q5TEC6 | 429 |
| MORC4 | MLPH | Q9BV36 | 421 |
| MORC4 | SPINK1 | P00995 | 419 |
| MORC4 | PHLDB2 | Q86SQ0 | 395 |
| MORC4 | RIPPLY1 | Q0D2K3 | 391 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RYBP | BMI1 | psi-mi:“MI:0914”(association) | 0.850 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| PCGF1 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| STAT3 | MORC4 | psi-mi:“MI:0915”(physical association) | 0.510 |
| MORC4 | STAT3 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ETV7 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| MORC4 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| MORC4 | AHNAK | psi-mi:“MI:0915”(physical association) | 0.400 |
| MORC4 | PRKAA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MORC4 | GEMIN4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MORC4 | SKIL | psi-mi:“MI:0915”(physical association) | 0.370 |
| MORC4 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM167A | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMYD2 | HSPA4L | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| S100B | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PNMA2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| WHAMMP3 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
| PCGF1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (93): MORC4 (Affinity Capture-RNA), MORC4 (Affinity Capture-RNA), MORC4 (Affinity Capture-RNA), MORC4 (Affinity Capture-RNA), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Affinity Capture-MS), MORC4 (Proximity Label-MS), MORC4 (Affinity Capture-MS), MORC4 (Proximity Label-MS)
ESM2 similar proteins: A0A1B0GUJ8, A1A5R7, A2CJ06, A7E3N2, B1H224, B8QB46, D3Z8Y2, D3ZSP7, O55036, P0CG32, P54274, P70371, Q14BQ3, Q29RJ0, Q2HJ46, Q2T9U5, Q3TTP0, Q4R8X0, Q4R9F7, Q4VA55, Q5DTT8, Q5RBH9, Q5TKR9, Q5U310, Q5ZIX8, Q6DJS0, Q6ZQF7, Q71M44, Q7Z2W4, Q7Z7J5, Q80VH0, Q80VM8, Q8BMD7, Q8BZ21, Q8CCG4, Q8CDN1, Q8JZW8, Q8ND61, Q8TE76, Q8VD24
Diamond homologs: A0A0P0X9Z7, Q0DIQ5, Q0DRX6, Q8BMD7, Q8TE76, F4JPP0, F4JRS4, F4K2G3, F4KAF2, F7BJB9, Q14149, Q56Y74, Q5FV35, Q84WV6, Q86VD1, Q9WVL5, Q8C5W4, Q5CCK4, Q69ZX6, Q6IR42, Q9M1I1, Q9Y6X9, Q08EN7, Q504Y3, Q6Z3U3, Q23243, Q2LAE1, Q9H0M4, E1BYJ2, O96028, P52701, P54276, Q8BVE8, B5BT18, F4J9M5, O43065, P79051, Q06554, Q9UTL9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 74 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 |
|---|---|---|---|
| positive regulation of miRNA transcription | 5 | 20.8× | 3e-04 |
| anatomical structure morphogenesis | 8 | 15.9× | 5e-06 |
| transcription by RNA polymerase II | 12 | 12.1× | 5e-08 |
| chromatin remodeling | 9 | 9.4× | 5e-05 |
| central nervous system development | 5 | 8.2× | 6e-03 |
| negative regulation of apoptotic process | 10 | 5.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
298 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7660 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:106818653:A:AG | acceptor_gain | 1.0000 |
| X:106818658:A:AG | acceptor_gain | 1.0000 |
| X:106818658:AACAG:A | acceptor_gain | 1.0000 |
| X:106818659:A:G | acceptor_gain | 1.0000 |
| X:106818660:CAGG:C | acceptor_loss | 1.0000 |
| X:106818661:A:AG | acceptor_gain | 1.0000 |
| X:106818661:AG:A | acceptor_gain | 1.0000 |
| X:106818661:AGG:A | acceptor_gain | 1.0000 |
| X:106818662:G:GT | acceptor_gain | 1.0000 |
| X:106818662:GG:G | acceptor_gain | 1.0000 |
| X:106818662:GGG:G | acceptor_gain | 1.0000 |
| X:106818771:GTG:G | donor_gain | 1.0000 |
| X:106818771:GTGGT:G | donor_loss | 1.0000 |
| X:106818772:TG:T | donor_gain | 1.0000 |
| X:106818772:TGG:T | donor_loss | 1.0000 |
| X:106818773:GG:G | donor_gain | 1.0000 |
| X:106818774:G:GG | donor_gain | 1.0000 |
| X:106818775:T:G | donor_loss | 1.0000 |
| X:106820994:GA:G | donor_gain | 1.0000 |
| X:106820996:G:GG | donor_gain | 1.0000 |
| X:106822087:GAA:G | donor_gain | 1.0000 |
| X:106822090:G:GG | donor_gain | 1.0000 |
| X:106840037:T:TA | acceptor_gain | 1.0000 |
| X:106840041:A:AG | acceptor_gain | 1.0000 |
| X:106840044:A:AG | acceptor_gain | 1.0000 |
| X:106840045:C:G | acceptor_gain | 1.0000 |
| X:106840046:A:AG | acceptor_gain | 1.0000 |
| X:106840046:A:AT | acceptor_loss | 1.0000 |
| X:106840046:AGTT:A | acceptor_gain | 1.0000 |
| X:106840047:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
6182 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:106958413:T:A | R436S | 1.000 |
| X:106958413:T:G | R436S | 1.000 |
| X:106986131:C:A | K126N | 1.000 |
| X:106986131:C:G | K126N | 1.000 |
| X:106958364:A:G | C453R | 0.999 |
| X:106958370:A:G | W451R | 0.999 |
| X:106958370:A:T | W451R | 0.999 |
| X:106958414:C:G | R436T | 0.999 |
| X:106958418:A:G | W435R | 0.999 |
| X:106958418:A:T | W435R | 0.999 |
| X:106958427:A:G | C432R | 0.999 |
| X:106958436:A:G | C429R | 0.999 |
| X:106976613:T:A | K376N | 0.999 |
| X:106976613:T:G | K376N | 0.999 |
| X:106976614:T:A | K376I | 0.999 |
| X:106978120:C:G | R339P | 0.999 |
| X:106978174:C:T | G321E | 0.999 |
| X:106985120:C:G | R217P | 0.999 |
| X:106986003:A:T | V169D | 0.999 |
| X:106986009:G:T | P167Q | 0.999 |
| X:106986060:A:G | L150P | 0.999 |
| X:106986063:C:T | G149E | 0.999 |
| X:106986064:C:G | G149R | 0.999 |
| X:106986064:C:T | G149R | 0.999 |
| X:106986066:A:T | V148D | 0.999 |
| X:106986096:A:T | V138D | 0.999 |
| X:106986099:A:G | L137P | 0.999 |
| X:106986133:T:C | K126E | 0.999 |
| X:106986135:A:G | F125S | 0.999 |
| X:106993245:A:G | L98P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000094563 (X:106973851 C>A), RS1000162019 (X:106957525 CCTTT>C), RS1000293038 (X:106984754 C>A,G), RS1000388438 (X:106984229 T>C), RS1000388588 (X:106967785 C>A,G), RS1000445758 (X:106995112 T>C), RS1000535626 (X:106979802 C>G), RS1000637697 (X:106974463 C>G), RS1000685306 (X:106945611 T>C), RS1000721756 (X:106949683 T>C), RS1000783359 (X:106992649 G>T), RS1000800086 (X:106949220 T>A,C,G), RS1000937123 (X:106958686 A>G), RS1000959357 (X:106968186 T>C), RS1000990241 (X:106967617 C>T)
Disease associations
OMIM: gene MIM:300970 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001741_2 | Pancreatitis | 2.000000e-22 |
| GCST004860_112 | Alcoholic chronic pancreatitis | 1.000000e-06 |
| GCST004860_126 | Alcoholic chronic pancreatitis | 1.000000e-06 |
| GCST004860_24 | Alcoholic chronic pancreatitis | 4.000000e-13 |
| GCST004860_54 | Alcoholic chronic pancreatitis | 2.000000e-07 |
| GCST004860_60 | Alcoholic chronic pancreatitis | 1.000000e-12 |
| GCST004860_64 | Alcoholic chronic pancreatitis | 8.000000e-16 |
| GCST004860_73 | Alcoholic chronic pancreatitis | 2.000000e-29 |
| GCST004860_77 | Alcoholic chronic pancreatitis | 6.000000e-15 |
| GCST004860_78 | Alcoholic chronic pancreatitis | 2.000000e-19 |
| GCST004860_91 | Alcoholic chronic pancreatitis | 2.000000e-12 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 2 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Quercetin | increases expression | 1 |
| Silver | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
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): alcoholic pancreatitis, pancreatitis