PCMTD1

gene
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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

FieldValue
HGNC IDHGNC:30483
Approved symbolPCMTD1
Nameprotein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
Location8q11.23
Locus typegene with protein product
StatusApproved
AliasesFLJ10883
Ensembl geneENSG00000168300
Ensembl biotypeprotein_coding
OMIM620091
Entrez115294

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

ExonStartEnd
ENSE000013754705186084551861246
ENSE000021001905181758351820718
ENSE000021233655189893051899036
ENSE000035314775184566151845763
ENSE000036247965183144451831567
ENSE000036618705183351851833689

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 IDTPM avgSamples expressed
9302428.15111794
9302511.54591701
930261.4617602
930200.230473
930270.153779
930210.098630

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
oviduct epitheliumUBERON:000480499.53gold quality
tendon of biceps brachiiUBERON:000818899.20gold quality
cardiac muscle of right atriumUBERON:000337999.06gold quality
left ventricle myocardiumUBERON:000656699.04gold quality
upper arm skinUBERON:000426398.97gold quality
parotid glandUBERON:000183198.92gold quality
kidney epitheliumUBERON:000481998.90gold quality
vastus lateralisUBERON:000137998.89gold quality
tendonUBERON:000004398.88gold quality
epithelial cell of pancreasCL:000008398.79gold quality
calcaneal tendonUBERON:000370198.70gold quality
amniotic fluidUBERON:000017398.66gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451198.66gold quality
visceral pleuraUBERON:000240198.60gold quality
deltoidUBERON:000147698.57gold quality
parietal pleuraUBERON:000240098.52gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450298.36gold quality
biceps brachiiUBERON:000150798.32gold quality
seminal vesicleUBERON:000099898.29gold quality
germinal epithelium of ovaryUBERON:000130498.29gold quality
buccal mucosa cellCL:000233698.17gold quality
quadriceps femorisUBERON:000137798.08gold quality
myocardiumUBERON:000234998.06gold quality
renal medullaUBERON:000036298.04gold quality
epithelium of nasopharynxUBERON:000195198.02gold quality
tongueUBERON:000172397.95gold quality
skeletal muscle tissueUBERON:000113497.88gold quality
superior surface of tongueUBERON:000737197.83gold quality
cardia of stomachUBERON:000116297.82gold quality
body of tongueUBERON:001187697.79gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-11yes248.69
E-ANND-3yes14.34

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-429100.0073.442698
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-3646100.0073.565283
HSA-MIR-3163100.0077.238605
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-340-5P100.0072.504437
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-5692A100.0074.406850
HSA-MIR-428299.9975.366408
HSA-MIR-366299.9973.825684
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-186-5P99.9970.833707
HSA-MIR-32-5P99.9875.211964
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-25-3P99.9874.601817
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-480399.9871.993117
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-548N99.9871.944170
HSA-MIR-477599.9875.006394
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-3065-5P99.9771.563281

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

OrganismSymbolGene ID
mus_musculusPcmtd1ENSMUSG00000051285
rattus_norvegicusPcmtd1ENSRNOG00000005730
caenorhabditis_elegansR119.5WBGENE00020090

Paralogs (2): PCMT1 (ENSG00000120265), PCMTD2 (ENSG00000203880)

Protein

Protein identifiers

Protein-L-isoaspartate O-methyltransferase domain-containing protein 1Q96MG8 (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 IDNamesCanonical?
Q96MG8-11yes
Q96MG8-22

RefSeq proteins (4): NP_001273711, NP_001273712, NP_001350122, NP_443169* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000682PCMTFamily
IPR029063SAM-dependent_MTases_sfHomologous_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.

PDBMethodResolution (Å)
9OMAELECTRON MICROSCOPY4.14
9OMFELECTRON MICROSCOPY9.72

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96MG8-F183.900.69

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:

CategoryTerms
cellular anatomical structure2
protein modification by small protein conjugation1
protein metabolic process1
macromolecule modification1
S-adenosylmethionine-dependent methyltransferase activity1
protein carboxyl O-methyltransferase activity1
enzyme-substrate adaptor activity1
binding1
intracellular anatomical structure1
cullin-RING ubiquitin ligase complex1

Protein interactions and networks

STRING

1066 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PCMTD1PLEKHA7Q6IQ23728
PCMTD1EEIG1Q5T9C2601
PCMTD1COL11A1P12107593
PCMTD1ST18O60284573
PCMTD1DPM2O94777573
PCMTD1EPDR1Q9UM22571
PCMTD1C10orf53Q8N6V4519
PCMTD1NTAQ1Q96HA8475
PCMTD1STK31Q9BXU1436
PCMTD1SLC25A32Q9H2D1435
PCMTD1PUS7Q96PZ0419
PCMTD1ZNF605Q86T29417
PCMTD1SCAF11Q99590407
PCMTD1FERMT2Q96AC1401
PCMTD1ZSCAN29Q8IWY8399

IntAct

25 interactions, top by confidence:

ABTypeScore
CUL5SOCS2psi-mi:“MI:0914”(association)0.880
CUL5SOCS6psi-mi:“MI:0914”(association)0.640
CUL5SOCS7psi-mi:“MI:0914”(association)0.640
PPP2R3AWTIPpsi-mi:“MI:0914”(association)0.640
PCMTD1PRKNpsi-mi:“MI:0915”(physical association)0.560
RNF7SOCS7psi-mi:“MI:0914”(association)0.530
TipinRPA2psi-mi:“MI:0915”(physical association)0.400
PCMTD1PApsi-mi:“MI:0915”(physical association)0.400
JUNTPM3psi-mi:“MI:0914”(association)0.350
CUL5DDX3Xpsi-mi:“MI:0914”(association)0.350
RPS14RRP8psi-mi:“MI:0914”(association)0.350
SEPTIN3SEPTIN4psi-mi:“MI:0914”(association)0.350
MRPS11HNRNPRpsi-mi:“MI:0914”(association)0.350
AP3B1psi-mi:“MI:0914”(association)0.350
LINC02912USP9Ypsi-mi:“MI:0914”(association)0.350
RNF7SOCS2psi-mi:“MI:0914”(association)0.350
RPS14NVLpsi-mi:“MI:0914”(association)0.350
MRPS11DBTpsi-mi:“MI:0914”(association)0.350
ESRRGTTRpsi-mi:“MI:0914”(association)0.350
PCMTD1SCHIP1psi-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 termPartnersFoldFDR
proteasome-mediated ubiquitin-dependent protein catabolic process510.4×5e-03
protein ubiquitination69.9×3e-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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance22
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2257 predictions. Top by Δscore:

VariantEffectΔscore
8:51820719:C:CCacceptor_gain1.0000
8:51831438:AC:Adonor_loss1.0000
8:51831439:CTTA:Cdonor_loss1.0000
8:51831440:TTAC:Tdonor_loss1.0000
8:51831441:TACGG:Tdonor_loss1.0000
8:51831442:A:ACdonor_gain1.0000
8:51831442:A:Cdonor_loss1.0000
8:51831443:C:CAdonor_gain1.0000
8:51831443:CG:Cdonor_gain1.0000
8:51831443:CGG:Cdonor_gain1.0000
8:51831443:CGGA:Cdonor_gain1.0000
8:51831443:CGGAG:Cdonor_gain1.0000
8:51831563:GTTAA:Gacceptor_gain1.0000
8:51831564:TTAA:Tacceptor_gain1.0000
8:51831565:TAA:Tacceptor_gain1.0000
8:51831566:AA:Aacceptor_gain1.0000
8:51831568:C:CCacceptor_gain1.0000
8:51831570:A:Cacceptor_gain1.0000
8:51831572:T:Cacceptor_gain1.0000
8:51831572:T:TCacceptor_gain1.0000
8:51833513:GTTAC:Gdonor_loss1.0000
8:51833514:TTACC:Tdonor_loss1.0000
8:51833515:TA:Tdonor_loss1.0000
8:51833516:ACCTG:Adonor_loss1.0000
8:51833517:C:CAdonor_loss1.0000
8:51833685:CAAAT:Cacceptor_gain1.0000
8:51833689:TCTGC:Tacceptor_loss1.0000
8:51833690:C:Aacceptor_loss1.0000
8:51833690:C:CCacceptor_gain1.0000
8:51833695:T:Cacceptor_gain1.0000

AlphaMissense

2375 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:51820670:C:GR252P1.000
8:51831502:A:CF216L1.000
8:51831502:A:TF216L1.000
8:51831503:A:CF216C1.000
8:51831503:A:GF216S1.000
8:51831504:A:CF216V1.000
8:51831504:A:GF216L1.000
8:51831504:A:TF216I1.000
8:51831509:A:TV214D1.000
8:51831510:C:GV214L1.000
8:51831534:A:GW206R1.000
8:51831534:A:TW206R1.000
8:51831551:C:GR200P1.000
8:51831566:A:GL195S1.000
8:51833531:G:CP190R1.000
8:51833531:G:TP190H1.000
8:51833532:G:AP190S1.000
8:51833532:G:TP190T1.000
8:51833537:A:TV188D1.000
8:51833546:C:AG185V1.000
8:51833546:C:TG185D1.000
8:51833547:C:GG185R1.000
8:51833558:A:GL181P1.000
8:51833600:G:TA167D1.000
8:51833603:C:TG166E1.000
8:51833604:C:GG166R1.000
8:51833604:C:TG166R1.000
8:51833605:A:CC165W1.000
8:51833606:C:TC165Y1.000
8:51833607:A:GC165R1.000

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):

StudyTraitp-value
GCST003467_14Glaucoma (primary angle closure)5.000000e-16
GCST003467_15Glaucoma (primary angle closure)2.000000e-13
GCST006041_23Major depressive disorder2.000000e-07
GCST007559_22Sleep duration (short sleep)2.000000e-08
GCST009391_1021Metabolite levels9.000000e-06
GCST009391_1973Metabolite levels9.000000e-06
GCST009600_72Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)3.000000e-08
GCST011011_64Youthful appearance (self-reported)4.000000e-08

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0010360lysophosphatidylcholine 18:1 measurement
EFO:0010541trimethylamine-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.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, affects expression, affects cotreatment8
trichostatin Aaffects cotreatment, decreases expression, affects expression4
sodium arsenitedecreases expression, affects cotreatment, increases abundance, increases expression4
bisphenol Adecreases methylation, increases expression2
entinostatdecreases expression, affects cotreatment2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
Cyclosporinedecreases expression, increases expression2
aristolochic acid Idecreases expression, increases expression1
FR900359increases phosphorylation1
dicrotophosdecreases expression1
beta-lapachonedecreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, decreases expression1
phenethyl isothiocyanateincreases expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
ICG 001increases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
(+)-JQ1 compoundincreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Dasatinibincreases expression1
Vorinostatdecreases expression1
Panobinostataffects cotreatment, decreases expression1
Air Pollutantsdecreases expression1
Arsenicincreases abundance, affects cotreatment, decreases expression1
Atrazinedecreases expression1
Benzo(a)pyrenedecreases methylation1
Clorgylineincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • 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