PCMTD1
geneOn this page
Also known as FLJ10883
Summary
PCMTD1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1, HGNC:30483) is a protein-coding gene on chromosome 8q11.23, encoding Protein-L-isoaspartate O-methyltransferase domain-containing protein 1 (Q96MG8). Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination. Part of Cul5-RING ubiquitin ligase complex.
Source: NCBI Gene 115294 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 28 total
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
- MANE Select transcript:
NM_052937
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30483 |
| Approved symbol | PCMTD1 |
| Name | protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 |
| Location | 8q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10883 |
| Ensembl gene | ENSG00000168300 |
| Ensembl biotype | protein_coding |
| OMIM | 620091 |
| Entrez | 115294 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 15 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000360540, ENST00000519554, ENST00000519559, ENST00000519975, ENST00000521046, ENST00000521344, ENST00000522514, ENST00000544451, ENST00000883489, ENST00000883490, ENST00000952614, ENST00000952615, ENST00000952616, ENST00000952617, ENST00000952618, ENST00000952619, ENST00000952620, ENST00000952621
RefSeq mRNA: 4 — MANE Select: NM_052937
NM_001286782, NM_001286783, NM_001363193, NM_052937
CCDS: CCDS6148, CCDS69480
Canonical transcript exons
ENST00000522514 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001375470 | 51860845 | 51861246 |
| ENSE00002100190 | 51817583 | 51820718 |
| ENSE00002123365 | 51898930 | 51899036 |
| ENSE00003531477 | 51845661 | 51845763 |
| ENSE00003624796 | 51831444 | 51831567 |
| ENSE00003661870 | 51833518 | 51833689 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.6414 / max 540.3930, expressed in 1805 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93024 | 28.1511 | 1794 |
| 93025 | 11.5459 | 1701 |
| 93026 | 1.4617 | 602 |
| 93020 | 0.2304 | 73 |
| 93027 | 0.1537 | 79 |
| 93021 | 0.0986 | 30 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oviduct epithelium | UBERON:0004804 | 99.53 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.20 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.06 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.04 | gold quality |
| upper arm skin | UBERON:0004263 | 98.97 | gold quality |
| parotid gland | UBERON:0001831 | 98.92 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.90 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.89 | gold quality |
| tendon | UBERON:0000043 | 98.88 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 98.79 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.70 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.66 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.66 | gold quality |
| visceral pleura | UBERON:0002401 | 98.60 | gold quality |
| deltoid | UBERON:0001476 | 98.57 | gold quality |
| parietal pleura | UBERON:0002400 | 98.52 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.36 | gold quality |
| biceps brachii | UBERON:0001507 | 98.32 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.29 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.29 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.17 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.08 | gold quality |
| myocardium | UBERON:0002349 | 98.06 | gold quality |
| renal medulla | UBERON:0000362 | 98.04 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.02 | gold quality |
| tongue | UBERON:0001723 | 97.95 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.88 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.83 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.82 | gold quality |
| body of tongue | UBERON:0011876 | 97.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-11 | yes | 248.69 |
| E-ANND-3 | yes | 14.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
185 targeting PCMTD1, 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-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
Literature-anchored findings (GeneRIF, showing 7)
- Presence of at least one A allele (AG or AA genotype) for rs1015213 was associated with a shallower anterior chamber depth (-0.07 mm, 95% CI -0.01 to -0.14 mm, p=0.028) after adjusting for age and sex (both p</=0.001). (PMID:23505305)
- In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with primary angle closure. (PMID:23847314)
- The three genetic susceptibility loci for primary angle-closure glaucoma did not underlie any major phenotypic diversity in terms of disease severity or progression. (PMID:24474268)
- No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure glaucoma was found among ethnic Han Chinese from Sichuan (PMID:27455018)
- In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration. (PMID:29310965)
- This study has identified an increased percentage of IDH1 and PCMTD1 mutations in Squamous Cell Lung Cancers arising in the Appalachian Kentucky residents versus The Cancer Genome Atlas, with population-specific implications for the personalized treatment of this disease. (PMID:30377206)
- Human Protein-l-isoaspartate O-Methyltransferase Domain-Containing Protein 1 (PCMTD1) Associates with Cullin-RING Ligase Proteins. (PMID:35486881)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pcmtd1 | ENSMUSG00000051285 |
| rattus_norvegicus | Pcmtd1 | ENSRNOG00000005730 |
| caenorhabditis_elegans | R119.5 | WBGENE00020090 |
Paralogs (2): PCMT1 (ENSG00000120265), PCMTD2 (ENSG00000203880)
Protein
Protein identifiers
Protein-L-isoaspartate O-methyltransferase domain-containing protein 1 — Q96MG8 (reviewed: Q96MG8)
All UniProt accessions (3): E5RGG7, Q96MG8, H0YBU4
UniProt curated annotations — full annotation on UniProt →
Function. Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Specifically binds to the methyltransferase cofactor S-adenosylmethionine (AdoMet) via the N-terminal AdoMet binding motif, but does not display methyltransferase activity. May provide an alternate maintenance pathway for modified proteins by acting as a damage-specific E3 ubiquitin ligase adaptor protein.
Subunit / interactions. Component of the probable ECS(PCMTD1) E3 ubiquitin-protein ligase complex, at least composed of CUL5, ELOB, ELOC, RBX2 and PCMTD1. Interacts (via the BC-box) with ELOB and ELOC; the interaction is direct and stabilizes PCMTD1.
Subcellular location. Cytoplasm. Membrane.
Domain organisation. At its N-terminus, contains L-isoaspartate and S-adenosylmethionine (AdoMet) binding motifs. Also contains an extended SOCS box motif, where the Cul-box is separated from the BC-box by ~90 residues, within its C-terminus.
Similarity. Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96MG8-1 | 1 | yes |
| Q96MG8-2 | 2 |
RefSeq proteins (4): NP_001273711, NP_001273712, NP_001350122, NP_443169* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000682 | PCMT | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF01135
UniProt features (15 total): region of interest 6, compositionally biased region 2, initiator methionine 1, chain 1, active site 1, lipid moiety-binding region 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9OMA | ELECTRON MICROSCOPY | 4.14 |
| 9OMF | ELECTRON MICROSCOPY | 9.72 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MG8-F1 | 83.90 | 0.69 |
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 (1): 64
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 195 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, TTTGTAG_MIR520D, CHUNG_BLISTER_CYTOTOXICITY_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MEF2_02, LHX3_01, NKX61_01, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, DOUGLAS_BMI1_TARGETS_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, CUI_TCF21_TARGETS_2_DN, chr8q11, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, TGGAAA_NFAT_Q4_01
GO Biological Process (2): protein ubiquitination (GO:0016567), protein modification process (GO:0036211)
GO Molecular Function (3): protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), membrane (GO:0016020), Cul5-RING ubiquitin ligase complex (GO:0031466)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein modification by small protein conjugation | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| protein carboxyl O-methyltransferase activity | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
1066 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCMTD1 | PLEKHA7 | Q6IQ23 | 728 |
| PCMTD1 | EEIG1 | Q5T9C2 | 601 |
| PCMTD1 | COL11A1 | P12107 | 593 |
| PCMTD1 | ST18 | O60284 | 573 |
| PCMTD1 | DPM2 | O94777 | 573 |
| PCMTD1 | EPDR1 | Q9UM22 | 571 |
| PCMTD1 | C10orf53 | Q8N6V4 | 519 |
| PCMTD1 | NTAQ1 | Q96HA8 | 475 |
| PCMTD1 | STK31 | Q9BXU1 | 436 |
| PCMTD1 | SLC25A32 | Q9H2D1 | 435 |
| PCMTD1 | PUS7 | Q96PZ0 | 419 |
| PCMTD1 | ZNF605 | Q86T29 | 417 |
| PCMTD1 | SCAF11 | Q99590 | 407 |
| PCMTD1 | FERMT2 | Q96AC1 | 401 |
| PCMTD1 | ZSCAN29 | Q8IWY8 | 399 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL5 | SOCS2 | psi-mi:“MI:0914”(association) | 0.880 |
| CUL5 | SOCS6 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL5 | SOCS7 | psi-mi:“MI:0914”(association) | 0.640 |
| PPP2R3A | WTIP | psi-mi:“MI:0914”(association) | 0.640 |
| PCMTD1 | PRKN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| Tipin | RPA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCMTD1 | PA | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL5 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| RPS14 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| SEPTIN3 | SEPTIN4 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS11 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| AP3B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| LINC02912 | USP9Y | psi-mi:“MI:0914”(association) | 0.350 |
| RNF7 | SOCS2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS14 | NVL | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS11 | DBT | psi-mi:“MI:0914”(association) | 0.350 |
| ESRRG | TTR | psi-mi:“MI:0914”(association) | 0.350 |
| PCMTD1 | SCHIP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (30): PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Reconstituted Complex), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-MS), PCMTD1 (Affinity Capture-RNA)
ESM2 similar proteins: A2VDP2, A3KMI0, B2RR83, B4NBB0, D3ZA12, F8VPZ3, O43314, O60678, P19838, P25799, P41229, P41230, P51186, P59913, Q04861, Q10003, Q14BI7, Q17902, Q1LXK4, Q1LXK5, Q29RZ2, Q38JA7, Q3MHU3, Q58CZ2, Q5NVL7, Q5R746, Q5R7E5, Q5R7K4, Q5REW0, Q5ZMR3, Q62240, Q63369, Q6BX78, Q6F3J0, Q6IQX0, Q6J5K9, Q7K175, Q7Z478, Q80Y84, Q8BHD8
Diamond homologs: A2VDP2, A7HHV3, P59913, Q11TS0, Q58CZ2, Q5R7E5, Q5R7K4, Q5ZMR3, Q8BHD8, Q96MG8, Q9NV79, A8AAV7, B1L6T9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 5 | 10.4× | 5e-03 |
| protein ubiquitination | 6 | 9.9× | 3e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — AML.
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2257 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:51820719:C:CC | acceptor_gain | 1.0000 |
| 8:51831438:AC:A | donor_loss | 1.0000 |
| 8:51831439:CTTA:C | donor_loss | 1.0000 |
| 8:51831440:TTAC:T | donor_loss | 1.0000 |
| 8:51831441:TACGG:T | donor_loss | 1.0000 |
| 8:51831442:A:AC | donor_gain | 1.0000 |
| 8:51831442:A:C | donor_loss | 1.0000 |
| 8:51831443:C:CA | donor_gain | 1.0000 |
| 8:51831443:CG:C | donor_gain | 1.0000 |
| 8:51831443:CGG:C | donor_gain | 1.0000 |
| 8:51831443:CGGA:C | donor_gain | 1.0000 |
| 8:51831443:CGGAG:C | donor_gain | 1.0000 |
| 8:51831563:GTTAA:G | acceptor_gain | 1.0000 |
| 8:51831564:TTAA:T | acceptor_gain | 1.0000 |
| 8:51831565:TAA:T | acceptor_gain | 1.0000 |
| 8:51831566:AA:A | acceptor_gain | 1.0000 |
| 8:51831568:C:CC | acceptor_gain | 1.0000 |
| 8:51831570:A:C | acceptor_gain | 1.0000 |
| 8:51831572:T:C | acceptor_gain | 1.0000 |
| 8:51831572:T:TC | acceptor_gain | 1.0000 |
| 8:51833513:GTTAC:G | donor_loss | 1.0000 |
| 8:51833514:TTACC:T | donor_loss | 1.0000 |
| 8:51833515:TA:T | donor_loss | 1.0000 |
| 8:51833516:ACCTG:A | donor_loss | 1.0000 |
| 8:51833517:C:CA | donor_loss | 1.0000 |
| 8:51833685:CAAAT:C | acceptor_gain | 1.0000 |
| 8:51833689:TCTGC:T | acceptor_loss | 1.0000 |
| 8:51833690:C:A | acceptor_loss | 1.0000 |
| 8:51833690:C:CC | acceptor_gain | 1.0000 |
| 8:51833695:T:C | acceptor_gain | 1.0000 |
AlphaMissense
2375 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:51820670:C:G | R252P | 1.000 |
| 8:51831502:A:C | F216L | 1.000 |
| 8:51831502:A:T | F216L | 1.000 |
| 8:51831503:A:C | F216C | 1.000 |
| 8:51831503:A:G | F216S | 1.000 |
| 8:51831504:A:C | F216V | 1.000 |
| 8:51831504:A:G | F216L | 1.000 |
| 8:51831504:A:T | F216I | 1.000 |
| 8:51831509:A:T | V214D | 1.000 |
| 8:51831510:C:G | V214L | 1.000 |
| 8:51831534:A:G | W206R | 1.000 |
| 8:51831534:A:T | W206R | 1.000 |
| 8:51831551:C:G | R200P | 1.000 |
| 8:51831566:A:G | L195S | 1.000 |
| 8:51833531:G:C | P190R | 1.000 |
| 8:51833531:G:T | P190H | 1.000 |
| 8:51833532:G:A | P190S | 1.000 |
| 8:51833532:G:T | P190T | 1.000 |
| 8:51833537:A:T | V188D | 1.000 |
| 8:51833546:C:A | G185V | 1.000 |
| 8:51833546:C:T | G185D | 1.000 |
| 8:51833547:C:G | G185R | 1.000 |
| 8:51833558:A:G | L181P | 1.000 |
| 8:51833600:G:T | A167D | 1.000 |
| 8:51833603:C:T | G166E | 1.000 |
| 8:51833604:C:G | G166R | 1.000 |
| 8:51833604:C:T | G166R | 1.000 |
| 8:51833605:A:C | C165W | 1.000 |
| 8:51833606:C:T | C165Y | 1.000 |
| 8:51833607:A:G | C165R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005616 (8:51823081 G>A), RS1000020008 (8:51869804 T>A), RS1000081060 (8:51898277 C>G), RS1000114371 (8:51821968 C>T), RS1000196532 (8:51880094 G>A), RS1000205483 (8:51863963 TG>T), RS1000232923 (8:51822757 A>T), RS1000297275 (8:51839513 C>T), RS1000340043 (8:51851787 C>G,T), RS1000370808 (8:51897358 A>G), RS1000380117 (8:51857789 T>C), RS1000454333 (8:51863960 G>C), RS1000480822 (8:51891905 T>C), RS1000513555 (8:51829054 T>C), RS1000534210 (8:51892115 T>C)
Disease associations
OMIM: gene MIM:620091 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003467_14 | Glaucoma (primary angle closure) | 5.000000e-16 |
| GCST003467_15 | Glaucoma (primary angle closure) | 2.000000e-13 |
| GCST006041_23 | Major depressive disorder | 2.000000e-07 |
| GCST007559_22 | Sleep duration (short sleep) | 2.000000e-08 |
| GCST009391_1021 | Metabolite levels | 9.000000e-06 |
| GCST009391_1973 | Metabolite levels | 9.000000e-06 |
| GCST009600_72 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 3.000000e-08 |
| GCST011011_64 | Youthful appearance (self-reported) | 4.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010360 | lysophosphatidylcholine 18:1 measurement |
| EFO:0010541 | trimethylamine-N-oxide measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 8 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| bisphenol A | decreases methylation, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| phenethyl isothiocyanate | increases expression | 1 |
| perfluorooctane sulfonic acid | 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, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Dasatinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Panobinostat | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | increases abundance, affects cotreatment, decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Clorgyline | 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): primary angle-closure glaucoma