PTMS
gene geneOn this page
Also known as ParaT
Summary
PTMS (parathymosin, HGNC:9629) is a protein-coding gene on chromosome 12p13.31, encoding Parathymosin (P20962). Parathymosin may mediate immune function by blocking the effect of prothymosin alpha which confers resistance to certain opportunistic infections.
Predicted to enable histone binding activity. Predicted to be involved in negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 5763 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- Clinical variants (ClinVar): 18 total
- GTEx eGene: eQTL in 9 tissues, sQTL in 17 (q < 0.05)
- Constraint (gnomAD): pLI 0.82 (intermediate), LOEUF 0.63 (unconstrained)
- MANE Select transcript:
NM_002824
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9629 |
| Approved symbol | PTMS |
| Name | parathymosin |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ParaT |
| Ensembl gene | ENSG00000159335 |
| Ensembl biotype | protein_coding |
| OMIM | 168440 |
| Entrez | 5763 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
MANE Select: ENST00000309083
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 3
ENST00000309083, ENST00000389462, ENST00000538057, ENST00000540667, ENST00000710358, ENST00001136260
RefSeq mRNA: 2 — MANE Select: NM_002824
NM_001330333, NM_002824
CCDS: CCDS81656, CCDS8560
Canonical transcript exons
ENST00000309083 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002265104 | 6770392 | 6770952 |
| ENSE00003544822 | 6769603 | 6769674 |
| ENSE00003621358 | 6769921 | 6769999 |
| ENSE00003622130 | 6770157 | 6770218 |
| ENSE00004011638 | 6766363 | 6766750 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 99.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 539.0801 / max 4883.5893, expressed in 1824 samples.
Highest expression (Bgee): tendon of biceps brachii, hemisphere of cerebellum, lobe of liver, cerebellar hemisphere, body of uterus.
Genetic regulation across tissues (GTEx eQTL / sQTL)
PTMS is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 9 tissues and its splicing (sQTL) in 17 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 26 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Artery Tibial | sqtl | 6.7e-17 | -0.39 | 12:6770036:T:C |
| Adipose Subcutaneous | sqtl | 2.6e-16 | -0.38 | 12:6770036:T:C |
| Skin Sun Exposed Lower leg | sqtl | 9.5e-13 | -0.36 | 12:6768692:A:G |
| Artery Aorta | sqtl | 6.8e-11 | -0.43 | 12:6770036:T:C |
| Nerve Tibial | sqtl | 1.2e-10 | -0.41 | 12:6767122:G:C |
| Lung | sqtl | 1.4e-10 | -0.35 | 12:6770036:T:C |
| Thyroid | sqtl | 2.3e-08 | -0.34 | 12:6770113:A:G |
| Esophagus Muscularis | sqtl | 1.3e-07 | -0.29 | 12:6770036:T:C |
| Breast Mammary Tissue | sqtl | 1.9e-06 | -0.35 | 12:6770036:T:C |
| Esophagus Mucosa | sqtl | 6.2e-06 | -0.36 | 12:6770036:T:C |
| Cells Cultured fibroblasts | sqtl | 8.7e-06 | -0.76 | 12:6769091:G:C |
| Nerve Tibial | eqtl | 2.0e-05 | -0.13 | 12:6767122:G:C |
| Esophagus Mucosa | eqtl | 1.2e-04 | +0.13 | 12:6768692:A:G |
| Testis | sqtl | 5.0e-04 | +0.38 | 12:6770113:A:G |
| Esophagus Gastroesophageal Junction | sqtl | 6.1e-04 | -0.27 | 12:6761697:G:C |
| Skin Not Sun Exposed Suprapubic | sqtl | 8.2e-04 | -0.30 | 12:6759424:C:G |
| Ovary | sqtl | 1.8e-03 | -0.59 | 12:6762933:G:A |
| Whole Blood | eqtl | 4.8e-03 | -0.11 | 12:7694712:C:T |
| Muscle Skeletal | eqtl | 1.1e-02 | +0.21 | 12:5998878:G:A |
| Adipose Visceral Omentum | eqtl | 1.2e-02 | +0.52 | 12:6431511:T:C |
FANTOM5 promoters
showing 10 of 21 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123721 | 413.9223 | 1820 |
| 123725 | 53.1120 | 1803 |
| 123736 | 13.0866 | 1640 |
| 123719 | 11.5472 | 1652 |
| 123723 | 11.0011 | 1663 |
| 123735 | 8.7057 | 1601 |
| 123720 | 6.5985 | 1708 |
| 123737 | 3.1657 | 1150 |
| 123724 | 3.1014 | 1422 |
| 123722 | 3.0520 | 1290 |
Top tissues by expression
showing 100 of 285 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.96 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.71 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.67 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.65 | gold quality |
| body of uterus | UBERON:0009853 | 99.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.59 | gold quality |
| lower esophagus | UBERON:0013473 | 99.59 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 99.59 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.58 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.57 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.54 | gold quality |
| right ovary | UBERON:0002118 | 99.53 | gold quality |
| popliteal artery | UBERON:0002250 | 99.53 | gold quality |
| tibial artery | UBERON:0007610 | 99.53 | gold quality |
| left ovary | UBERON:0002119 | 99.52 | gold quality |
| left uterine tube | UBERON:0001303 | 99.51 | gold quality |
| left coronary artery | UBERON:0001626 | 99.50 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.50 | gold quality |
| cortical plate | UBERON:0005343 | 99.50 | gold quality |
| ascending aorta | UBERON:0001496 | 99.48 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.48 | gold quality |
| right coronary artery | UBERON:0001625 | 99.47 | gold quality |
| ventricular zone | UBERON:0003053 | 99.47 | gold quality |
| aorta | UBERON:0000947 | 99.43 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.43 | gold quality |
| right lung | UBERON:0002167 | 99.43 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.42 | gold quality |
| endocervix | UBERON:0000458 | 99.41 | gold quality |
| nerve | UBERON:0001021 | 99.37 | gold quality |
| tibial nerve | UBERON:0001323 | 99.37 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.31 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 99.30 | gold quality |
| ectocervix | UBERON:0012249 | 99.28 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.26 | gold quality |
| apex of heart | UBERON:0002098 | 99.22 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.18 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.18 | gold quality |
| sural nerve | UBERON:0015488 | 99.14 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.12 | gold quality |
| skin of leg | UBERON:0001511 | 99.12 | gold quality |
| omental fat pad | UBERON:0010414 | 99.12 | gold quality |
| peritoneum | UBERON:0002358 | 99.08 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.06 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.03 | gold quality |
| minor salivary gland | UBERON:0001830 | 99.01 | gold quality |
| coronary artery | UBERON:0001621 | 98.96 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.90 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.83 | gold quality |
| body of stomach | UBERON:0001161 | 98.79 | gold quality |
| transverse colon | UBERON:0001157 | 98.76 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.73 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.72 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.69 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.68 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.66 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.63 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.58 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.49 | gold quality |
| amygdala | UBERON:0001876 | 98.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.33 | gold quality |
| esophagus | UBERON:0001043 | 98.29 | gold quality |
| right uterine tube | UBERON:0001302 | 98.25 | gold quality |
| cerebellum | UBERON:0002037 | 98.24 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.11 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.02 | gold quality |
| thyroid gland | UBERON:0002046 | 98.01 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.82 | gold quality |
| body of pancreas | UBERON:0001150 | 97.73 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.67 | gold quality |
| tendon | UBERON:0000043 | 97.66 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.58 | gold quality |
| gall bladder | UBERON:0002110 | 97.58 | gold quality |
| stomach | UBERON:0000945 | 97.51 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.37 | gold quality |
| cardiac atrium | UBERON:0002081 | 97.32 | gold quality |
| pituitary gland | UBERON:0000007 | 97.23 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.23 | gold quality |
| rectum | UBERON:0001052 | 97.06 | gold quality |
| putamen | UBERON:0001874 | 97.00 | gold quality |
| adrenal gland | UBERON:0002369 | 96.92 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.81 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.61 | gold quality |
| left testis | UBERON:0004533 | 96.47 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.41 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.37 | gold quality |
| small intestine | UBERON:0002108 | 96.23 | gold quality |
| fundus of stomach | UBERON:0001160 | 96.18 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.14 | gold quality |
| heart | UBERON:0000948 | 96.10 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.06 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.04 | gold quality |
| embryo | UBERON:0000922 | 96.02 | gold quality |
| vagina | UBERON:0000996 | 95.98 | gold quality |
| ovary | UBERON:0000992 | 95.91 | gold quality |
| spleen | UBERON:0002106 | 95.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.87 | gold quality |
| right testis | UBERON:0004534 | 95.86 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.70 | gold quality |
| neocortex | UBERON:0001950 | 95.70 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8495 | yes | 524.30 |
| E-MTAB-5061 | yes | 265.05 |
| E-HCAD-1 | yes | 77.98 |
| E-MTAB-6701 | yes | 45.54 |
| E-GEOD-134144 | yes | 36.33 |
| E-MTAB-10553 | yes | 29.19 |
| E-CURD-122 | yes | 21.21 |
| E-CURD-88 | yes | 12.00 |
| E-ANND-3 | yes | 11.21 |
| E-GEOD-125970 | yes | 10.31 |
| E-CURD-46 | yes | 9.98 |
| E-MTAB-10662 | no | 2316.75 |
| E-MTAB-10485 | no | 1839.86 |
| E-MTAB-10018 | no | 1508.24 |
| E-MTAB-10283 | no | 673.49 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 80 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Basal ganglia | tissue | 386.0 | low |
| Putamen | tissue | 351.5 | |
| Cerebral cortex | tissue | 343.5 | medium |
| Temporal cortex | tissue | 343.5 | |
| Somatosensory cortex | tissue | 338.8 | |
| Cerebellum | tissue | 338.2 | high |
| Prefrontal cortex | tissue | 335.3 | |
| Hippocampal formation | tissue | 326.0 | |
| Entorhinal cortex | tissue | 326.0 | |
| Motor cortex | tissue | 320.2 | |
| Occipital cortex | tissue | 317.3 | |
| Retrosplenial and cingulate cortex | tissue | 297.3 | |
| Ventral forebrain | tissue | 280.9 | |
| Liver | tissue | 277.2 | medium |
| Retrosplenial cortex | tissue | 276.3 | |
| Hippocampus | tissue | 276.2 | low |
| Insular cortex | tissue | 273.7 | |
| Postcentral gyrus | tissue | 271.8 | |
| Septum | tissue | 252.1 | |
| Amygdala | tissue | 239.3 | |
| Nucleus accumbens | tissue | 236.6 | |
| Olfactory bulb | tissue | 227.7 | |
| Thalamus | tissue | 221.1 | |
| Superior colliculi | tissue | 204.8 | |
| Vagina | tissue | 187.5 | high |
| Pons | tissue | 179.3 | |
| Hypothalamus | tissue | 167.4 | |
| Midbrain | tissue | 167.3 | |
| Caudate putamen | tissue | 164.2 | |
| Choroid plexus | tissue | 163.3 | |
| Frontal cortex | tissue | 157.4 | |
| Substantia nigra | tissue | 146.3 | |
| Spinal cord | tissue | 139.8 | |
| Medulla oblongata | tissue | 124.4 | |
| Pituitary gland | tissue | 120.2 | |
| Ovary | tissue | 117.9 | medium |
| Periaqueductal gray | tissue | 108.8 | |
| Prostate | tissue | 102.7 | medium |
| Adipose tissue | tissue | 93.5 | high |
| Smooth muscle | tissue | 92.2 | medium |
| Endometrium 1 | tissue | 89.7 | high |
| Locus coeruleus | tissue | 88.6 | |
| Seminal vesicle | tissue | 81.9 | medium |
| Parathyroid gland | tissue | 77.5 | medium |
| Corpus callosum | tissue | 76.6 | |
| Lung | tissue | 64.6 | medium |
| Retina | tissue | 60.0 | |
| Cervix | tissue | 56.7 | medium |
| Kidney | tissue | 56.2 | medium |
| Skin 1 | tissue | 55.1 | medium |
| Skeletal muscle | tissue | 52.8 | medium |
| Fallopian tube | tissue | 52.2 | not detected |
| Adrenal gland | tissue | 49.6 | low |
| Small intestine | tissue | 48.9 | not detected |
| Placenta | tissue | 46.5 | high |
| Colon | tissue | 45.0 | medium |
| Salivary gland | tissue | 42.2 | medium |
| Spleen | tissue | 41.7 | low |
| Urinary bladder | tissue | 41.2 | low |
| Breast | tissue | 39.2 | high |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Blood vessel (369.1), Dorsal hippocampus (319.8), Ventral hippocampus (310.0), Hippocampus, CA1 (306.5), Corticomedial amygdala (300.2).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets:
| Target | Regulation |
|---|---|
| NR3C1 | Activation |
Functional genomics
gnomAD constraint: pLI 0.821, LOEUF 0.627, missense Z 1 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000309083 — one region, missense o/e 0.75.
Cross-species orthologs
0 orthologs
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1916452) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 12 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal behavior | 2 |
| hyperactivity | 1 |
| decreased exploration in new environment | 1 |
| increased circulating phosphate level | 1 |
| premature death | 1 |
| neurodegeneration | 1 |
| decreased grip strength | 1 |
| preweaning lethality, incomplete penetrance | 1 |
| decreased urine magnesium level | 1 |
| impaired spatial learning | 1 |
| brain atrophy | 1 |
| decreased thigmotaxis | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Rattus norvegicus | P04550 | 99.0% | Diamond |
| Mus musculus | Q9D0J8 | 99.0% | Diamond |
| Bos taurus | P08814 | 92.2% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| GPR162 | protein-coding | 27239 |
| LAG3 | protein-coding | 3902 |
| CD4 | protein-coding | 920 |
| MLF2 | protein-coding | 8079 |
| PIANP | protein-coding | 196500 |
| COPS7A | protein-coding | 50813 |
Protein
Protein identifiers
Parathymosin — P20962 (reviewed: P20962)
All UniProt accessions (4): P20962, A0A158RFU3, A0AA34QVV1, F5GXR3
UniProt curated annotations — full annotation on UniProt →
Function. Parathymosin may mediate immune function by blocking the effect of prothymosin alpha which confers resistance to certain opportunistic infections.
Similarity. Belongs to the pro/parathymosin family.
RefSeq proteins (2): NP_001317262, NP_002815* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004931 | Pro/parathymosin | Family |
Pfam: PF03247
UniProt features (13 total): modified residue 8, compositionally biased region 2, initiator methionine 1, chain 1, region of interest 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P20962-F1 | 62.03 | 0.00 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Essential proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoli; nucleoli rim; nucleoplasm
Antibody reliability (HPA): IH approved · IF approved
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 (8)
| Type | Positions |
|---|---|
| N6-acetyllysine | 15, 92, 4 |
| Phosphothreonine | 52 |
| N-acetylserine | 2 |
| Phosphoserine | 2, 5, 13 |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 225 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GGGTGGRR_PAX4_03, COUP_01, NFKB_C, IRF7_01, MODULE_75, HNF4_DR1_Q3, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, HNF4_01, TGANTCA_AP1_C, GATA1_03, PU1_Q6, MYB_Q3, LXR_Q3
GO Biological Process (4): immune system process (GO:0002376), DNA replication (GO:0006260), negative regulation of apoptotic process (GO:0043066), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (1): histone binding (GO:0042393)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
11 GO namespaces:
| Category | Terms |
|---|---|
| biological_process | 1 |
| DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
IntAct
Human interaction partners of PTMS in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
8 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| PARP2 | adp ribosylation reaction | 0.440 | 1 |
| SDCBP2 | physical association | 0.370 | 1 |
| GET4 | physical association | 0.000 | 1 |
| MYB | physical association | 0.000 | 1 |
| RXRB | physical association | 0.000 | 1 |
| SCHIP1 | physical association | 0.000 | 1 |
| SMAD2 | physical association | 0.000 | 1 |
| ZNF24 | physical association | 0.000 | 1 |
BioGRID (98 interactions; top human partners by supporting records): NR3C1 (Proximity Label-MS; 3 records), CREBBP (Affinity Capture-Western; 2 records), EP300 (Affinity Capture-Western; 2 records), HSPE1 (Affinity Capture-MS; 2 records), PTMA (Affinity Capture-MS; 2 records), SOD1 (Affinity Capture-MS; 2 records), ACTC1 (Affinity Capture-MS), ADSS (Co-fractionation), AGRN (Affinity Capture-MS), AKT3 (Affinity Capture-MS), ANP32A (Affinity Capture-MS), ANP32B (Affinity Capture-MS), ANXA5 (Affinity Capture-MS), APP (Reconstituted Complex), ATPIF1 (Affinity Capture-MS)
SIGNOR signaling
3 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| PTMS | “up-regulates quantity by expression” | NR3C1 | “transcriptional regulation” |
| PTMS | “up-regulates activity” | EP300 | binding |
| PTMS | “up-regulates activity” | NCOA1 | binding |
Disease & clinical
Genetic variants
Variant evidence for PTMS: 18 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 1 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 400):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 12:6769601–6769602 | acceptor_loss | 1.0000 | 3 |
| 12:6769648 | donor_gain | 1.0000 | |
| 12:6769660 | donor_gain | 1.0000 | |
| 12:6769675–6769676 | donor_loss | 1.0000 | 2 |
| 12:6769920 | acceptor_loss | 1.0000 | 2 |
| 12:6769989–6769990 | donor_gain | 1.0000 | 2 |
| 12:6770000–6770001 | donor_loss | 1.0000 | 5 |
| 12:6770216 | donor_gain | 1.0000 | |
| 12:6770390–6770391 | acceptor_loss | 1.0000 | 4 |
| 12:6766751–6766752 | donor_loss | 0.9900 | 5 |
AlphaMissense
224 missense substitutions predicted likely pathogenic (of 676 scored), across 65 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| N98 | 8 | 0.828 | 0.954 |
| N43 | 8 | 0.812 | 0.962 |
| D16 | 8 | 0.787 | 0.923 |
| K95 | 6 | 0.960 | 0.979 |
| G99 | 6 | 0.924 | 0.987 |
| K92 | 6 | 0.922 | 0.977 |
| K20 | 6 | 0.890 | 0.949 |
| K18 | 6 | 0.872 | 0.965 |
| K80 | 6 | 0.861 | 0.953 |
| K21 | 6 | 0.858 | 0.948 |
| T96 | 6 | 0.848 | 0.975 |
| G44 | 6 | 0.843 | 0.950 |
| K34 | 6 | 0.814 | 0.930 |
| K31 | 6 | 0.806 | 0.926 |
| D90 | 6 | 0.747 | 0.888 |
| R93 | 5 | 0.873 | 0.951 |
| R81 | 5 | 0.855 | 0.932 |
| K35 | 5 | 0.809 | 0.878 |
| K15 | 5 | 0.756 | 0.893 |
| K27 | 5 | 0.745 | 0.826 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Disease associations
OMIM: gene MIM:168440 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066490 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.41 | Kd | 39.4 | nM | CHEMBL3752910 |
| 7.41 | ED50 | 39.4 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149920: Binding affinity to human PTMS incubated for 45 mins by Kinobead based pull down assay | kd | 0.0394 | uM |
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| Particulate Matter | increases expression, affects cotreatment, decreases expression, increases abundance | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | affects methylation, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| UF010 compound | increases acetylation | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases 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 | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652962 | Binding | Binding affinity to human PTMS incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for PTMS across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.