PTPRCAP
gene geneOn this page
Also known as LPAPCD45-AP
Summary
PTPRCAP (protein tyrosine phosphatase receptor type C associated protein, HGNC:9667) is a protein-coding gene on chromosome 11q13.2, encoding Protein tyrosine phosphatase receptor type C-associated protein (Q14761).
The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein.
Source: NCBI Gene 5790 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 1 total
- Constraint (gnomAD): pLI 0.50 (intermediate), LOEUF 1.49 (unconstrained)
- MANE Select transcript:
NM_005608
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9667 |
| Approved symbol | PTPRCAP |
| Name | protein tyrosine phosphatase receptor type C associated protein |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LPAP, CD45-AP |
| Ensembl gene | ENSG00000213402 |
| Ensembl biotype | protein_coding |
| OMIM | 601577 |
| Entrez | 5790 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
MANE Select: ENST00000326294
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1
ENST00000326294
RefSeq mRNA: 1 — MANE Select: NM_005608
NM_005608
CCDS: CCDS8163
Canonical transcript exons
ENST00000326294 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001288436 | 67435510 | 67436350 |
| ENSE00001422363 | 67437617 | 67437682 |
Expression profiles
Bgee: expression breadth ubiquitous, 128 present calls, max score 99.43.
FANTOM5 (CAGE): breadth broad, TPM avg 74.5959 / max 3229.1796, expressed in 367 samples.
Highest expression (Bgee): granulocyte, spleen, blood, lymph node, vermiform appendix.
FANTOM5 promoters
4 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120925 | 73.2190 | 365 |
| 120924 | 1.3004 | 132 |
| 120922 | 0.0647 | 48 |
| 120923 | 0.0118 | 3 |
Top tissues by expression
showing 100 of 130 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.43 | gold quality |
| spleen | UBERON:0002106 | 98.64 | gold quality |
| blood | UBERON:0000178 | 97.34 | gold quality |
| lymph node | UBERON:0000029 | 97.06 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.09 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.66 | gold quality |
| bone marrow cell | CL:0002092 | 90.13 | gold quality |
| small intestine | UBERON:0002108 | 88.35 | gold quality |
| bone marrow | UBERON:0002371 | 87.13 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.59 | gold quality |
| right uterine tube | UBERON:0001302 | 83.73 | gold quality |
| leukocyte | CL:0000738 | 83.63 | gold quality |
| duodenum | UBERON:0002114 | 82.88 | gold quality |
| fundus of stomach | UBERON:0001160 | 82.12 | gold quality |
| monocyte | CL:0000576 | 82.10 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.81 | gold quality |
| transverse colon | UBERON:0001157 | 81.30 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.03 | gold quality |
| body of stomach | UBERON:0001161 | 80.02 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 79.93 | gold quality |
| left uterine tube | UBERON:0001303 | 79.15 | gold quality |
| right coronary artery | UBERON:0001625 | 78.67 | gold quality |
| right lung | UBERON:0002167 | 78.30 | gold quality |
| intestine | UBERON:0000160 | 78.29 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 77.71 | gold quality |
| minor salivary gland | UBERON:0001830 | 77.51 | gold quality |
| apex of heart | UBERON:0002098 | 77.51 | gold quality |
| omental fat pad | UBERON:0010414 | 77.20 | gold quality |
| tonsil | UBERON:0002372 | 77.10 | gold quality |
| esophagus mucosa | UBERON:0002469 | 76.97 | gold quality |
| stomach | UBERON:0000945 | 76.86 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 76.50 | gold quality |
| prostate gland | UBERON:0002367 | 76.21 | gold quality |
| colon | UBERON:0001155 | 76.07 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 75.91 | gold quality |
| endocervix | UBERON:0000458 | 75.52 | gold quality |
| lung | UBERON:0002048 | 75.48 | gold quality |
| vagina | UBERON:0000996 | 75.25 | gold quality |
| thyroid gland | UBERON:0002046 | 74.94 | gold quality |
| cortex of kidney | UBERON:0001225 | 74.86 | gold quality |
| adipose tissue | UBERON:0001013 | 74.76 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 74.64 | gold quality |
| ectocervix | UBERON:0012249 | 74.42 | gold quality |
| liver | UBERON:0002107 | 74.35 | gold quality |
| esophagus | UBERON:0001043 | 73.20 | gold quality |
| ascending aorta | UBERON:0001496 | 72.95 | gold quality |
| thoracic aorta | UBERON:0001515 | 72.93 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 72.87 | gold quality |
| myometrium | UBERON:0001296 | 72.66 | gold quality |
| right ovary | UBERON:0002118 | 72.53 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 72.38 | gold quality |
| left coronary artery | UBERON:0001626 | 72.34 | gold quality |
| mucosa of stomach | UBERON:0001199 | 72.26 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 72.26 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 72.01 | gold quality |
| body of uterus | UBERON:0009853 | 71.94 | gold quality |
| metanephros cortex | UBERON:0010533 | 71.85 | gold quality |
| multicellular organism | UBERON:0000468 | 71.07 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 70.92 | gold quality |
| tibial nerve | UBERON:0001323 | 70.86 | gold quality |
| skin of abdomen | UBERON:0001416 | 70.80 | gold quality |
| left ovary | UBERON:0002119 | 70.70 | gold quality |
| lower esophagus | UBERON:0013473 | 70.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 70.35 | gold quality |
| adenohypophysis | UBERON:0002196 | 70.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 69.52 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 69.50 | gold quality |
| substantia nigra | UBERON:0002038 | 69.49 | gold quality |
| zone of skin | UBERON:0000014 | 69.46 | gold quality |
| skin of leg | UBERON:0001511 | 69.40 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 69.23 | gold quality |
| right adrenal gland | UBERON:0001233 | 69.20 | gold quality |
| ovary | UBERON:0000992 | 69.16 | gold quality |
| right atrium auricular region | UBERON:0006631 | 68.75 | gold quality |
| putamen | UBERON:0001874 | 68.61 | gold quality |
| colonic epithelium | UBERON:0000397 | 68.40 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 68.40 | gold quality |
| urinary bladder | UBERON:0001255 | 68.30 | gold quality |
| pituitary gland | UBERON:0000007 | 68.27 | gold quality |
| amygdala | UBERON:0001876 | 68.25 | gold quality |
| temporal lobe | UBERON:0001871 | 68.21 | gold quality |
| left adrenal gland | UBERON:0001234 | 67.98 | gold quality |
| uterine cervix | UBERON:0000002 | 67.72 | gold quality |
| hypothalamus | UBERON:0001898 | 67.64 | gold quality |
| gall bladder | UBERON:0002110 | 67.50 | gold quality |
| kidney | UBERON:0002113 | 67.34 | gold quality |
| fallopian tube | UBERON:0003889 | 67.16 | gold quality |
| tibial artery | UBERON:0007610 | 66.99 | gold quality |
| placenta | UBERON:0001987 | 66.93 | gold quality |
| popliteal artery | UBERON:0002250 | 66.91 | gold quality |
| Ammon’s horn | UBERON:0001954 | 66.58 | gold quality |
| heart left ventricle | UBERON:0002084 | 66.03 | gold quality |
| heart | UBERON:0000948 | 65.99 | gold quality |
| rectum | UBERON:0001052 | 65.21 | gold quality |
| body of pancreas | UBERON:0001150 | 64.98 | gold quality |
| cerebellar cortex | UBERON:0002129 | 64.62 | gold quality |
| cerebellum | UBERON:0002037 | 64.61 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 64.53 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 64.50 | gold quality |
Single-cell (SCXA)
Detected in 29 experiment(s), a significant marker in 22.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-15 | yes | 1113.17 |
| E-MTAB-9801 | yes | 194.35 |
| E-HCAD-4 | yes | 139.00 |
| E-HCAD-1 | yes | 135.41 |
| E-MTAB-6701 | yes | 112.30 |
| E-MTAB-10553 | yes | 67.05 |
| E-CURD-122 | yes | 62.36 |
| E-MTAB-8410 | yes | 46.10 |
| E-CURD-88 | yes | 40.82 |
| E-MTAB-6678 | yes | 38.93 |
| E-HCAD-10 | yes | 37.61 |
| E-MTAB-10287 | yes | 35.81 |
| E-GEOD-135922 | yes | 32.57 |
| E-HCAD-9 | yes | 28.89 |
| E-MTAB-9067 | yes | 25.42 |
HPA expression
RNA tissue specificity: Group enriched
showing 60 of 73 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Lymph node | tissue | 118.4 | high |
| Thymus | tissue | 101.7 | |
| Spleen | tissue | 89.2 | high |
| Appendix | tissue | 68.9 | high |
| Tonsil | tissue | 48.1 | high |
| Bone marrow | tissue | 25.5 | medium |
| Stomach 1 | tissue | 23.2 | not detected |
| Small intestine | tissue | 18.2 | high |
| Hypothalamus | tissue | 14.9 | |
| Duodenum | tissue | 13.2 | high |
| Periaqueductal gray | tissue | 13.0 | |
| Spinal cord | tissue | 12.6 | |
| Substantia nigra | tissue | 11.3 | |
| Medulla oblongata | tissue | 11.1 | |
| Lung | tissue | 10.1 | not detected |
| Pons | tissue | 9.7 | |
| Vagina | tissue | 9.7 | not detected |
| Salivary gland | tissue | 9.6 | not detected |
| Midbrain | tissue | 9.4 | |
| Septum | tissue | 9.0 | |
| Colon | tissue | 8.7 | low |
| Corpus callosum | tissue | 8.6 | |
| Superior colliculi | tissue | 8.1 | |
| Thalamus | tissue | 7.2 | |
| Pituitary gland | tissue | 6.2 | |
| Ventral forebrain | tissue | 6.0 | |
| Urinary bladder | tissue | 5.9 | not detected |
| Putamen | tissue | 5.8 | |
| Amygdala | tissue | 5.8 | |
| Basal ganglia | tissue | 4.9 | not detected |
| Hippocampal formation | tissue | 4.9 | |
| Cerebral cortex | tissue | 3.7 | not detected |
| Temporal cortex | tissue | 3.7 | |
| Entorhinal cortex | tissue | 3.6 | |
| Motor cortex | tissue | 3.4 | |
| Adipose tissue | tissue | 3.3 | not detected |
| Olfactory bulb | tissue | 3.3 | |
| Insular cortex | tissue | 3.3 | |
| Skin 1 | tissue | 3.0 | not detected |
| Prefrontal cortex | tissue | 3.0 | |
| Retrosplenial cortex | tissue | 2.9 | |
| Gallbladder | tissue | 2.8 | not detected |
| Choroid plexus | tissue | 2.7 | |
| Liver | tissue | 2.7 | not detected |
| Prostate | tissue | 2.7 | not detected |
| Occipital cortex | tissue | 2.7 | |
| Adrenal gland | tissue | 2.5 | not detected |
| Retrosplenial and cingulate cortex | tissue | 2.5 | |
| Rectum | tissue | 2.2 | low |
| Somatosensory cortex | tissue | 2.2 | |
| Skeletal muscle | tissue | 2.1 | not detected |
| Endometrium 1 | tissue | 1.7 | not detected |
| Breast | tissue | 1.5 | not detected |
| Hippocampus | tissue | 1.5 | not detected |
| Locus coeruleus | tissue | 1.2 | |
| Nucleus accumbens | tissue | 1.0 | |
| Ovary | tissue | 0.9 | not detected |
| Cerebellum | tissue | 0.9 | not detected |
| Kidney | tissue | 0.9 | not detected |
| Testis | tissue | 0.8 | low |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Dorsal spinal cord (12.6), Ventral spinal cord (11.2), Blood vessel (9.9), White matter (8.6), Dorsal hippocampus (4.9).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting PTPRCAP by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
9 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-4642 | 97.52 | 67.60 | 916 |
| HSA-MIR-656-5P | 96.82 | 67.67 | 372 |
Functional genomics
gnomAD constraint: pLI 0.498, LOEUF 1.49, missense Z -1.12 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000326294 — one region, missense o/e 1.03.
Literature-anchored findings (GeneRIF, showing 4)
- We analysed the C77G polymorphism in multiple sclerosis (MS) patients from the genetically homogeneous population of Sardinia. CD45 did not contribute to development of the disease in Sardinian MS. (PMID:15372250)
- Data show that the minor allele of rs869736 in the PTPRCAP promoter is associated with increased susceptibility to diffuse-type gastric cancer by increasing PTPRCAP expression. (PMID:20019842)
- results support the model: following phorbol 12-myristate 13-acetate (PMA) or TCR/CD3 activation of T cells, LPAP is rapidly dephosphorylated at Ser-99 and Ser-172 and slowly phosphorylated at Ser-163. Ser-153 exhibited a high basal level of phosphorylation in both resting and activated cells (PMID:28827793)
- LPAP is a substrate for protein kinase CK2 that phosphorylates it at Ser153, presumably ensuring LPAP resistance to degradation. (PMID:30482149)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ptprcap | ENSMUSG00000045826 |
| rattus_norvegicus | Ptprcap | ENSRNOG00000021724 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:97811) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 5 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| lymphoid hyperplasia | 1 |
| enlarged lymph nodes | 1 |
| abnormal cytotoxic T cell physiology | 1 |
| decreased B cell proliferation | 1 |
| decreased T cell proliferation | 1 |
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 |
|---|---|---|
| TBC1D10C | protein-coding | 374403 |
| PPP1CA | protein-coding | 5499 |
| CORO1B | protein-coding | 57175 |
| CARNS1 | protein-coding | 57571 |
| RAD9A | protein-coding | 5883 |
| RPS6KB2 | protein-coding | 6199 |
| GPR152 | protein-coding | 390212 |
| CABP4 | protein-coding | 57010 |
| TMEM134 | protein-coding | 80194 |
| MIR6752 | ncRNA | 102465450 |
| AIP | protein-coding | 9049 |
| PITPNM1 | protein-coding | 9600 |
Protein
Protein identifiers
Protein tyrosine phosphatase receptor type C-associated protein — Q14761 (reviewed: Q14761)
Alternative names: CD45-associated protein, Lymphocyte phosphatase-associated phosphoprotein
All UniProt accessions (1): Q14761
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with CD45/PTPRC.
Subcellular location. Membrane.
Post-translational modifications. Phosphorylated on tyrosine residues.
RefSeq proteins (1): NP_005599* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016553 | PTPRCAP | Family |
Pfam: PF15713
UniProt features (7 total): modified residue 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, sequence variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14761-F1 | 58.14 | 0.08 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): plasma membrane
Antibody reliability (HPA): IH enhanced · 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 (2)
| Type | Positions |
|---|---|
| Phosphoserine | 99, 153 |
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: 220 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_45, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, MODULE_16, chr11q13, GGAANCGGAANY_UNKNOWN, BRN2_01, MODULE_171, ZHAN_MULTIPLE_MYELOMA_LB_DN, MODULE_88, WANG_IMMORTALIZED_BY_HOXA9_AND_MEIS1_DN
GO Biological Process (1): defense response (GO:0006952)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
5 GO namespaces:
| Category | Terms |
|---|---|
| response to stress | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 4 annotations. The rest are phylogenetic / computational / electronic (IEA).
1 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| plasma membrane | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 752 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTPRCAP | PTPRC | P08575 | 696 |
| PTPRCAP | CCND1 | P24385 | 487 |
| PTPRCAP | IRAG2 | Q12912 | 398 |
| PTPRCAP | Q92681 | Q92681 | 390 |
| PTPRCAP | N0E472 | N0E472 | 358 |
| PTPRCAP | CSNK2B | P07312 | 358 |
| PTPRCAP | LY6G5B | Q8NDX9 | 358 |
| PTPRCAP | SUPV3L1 | Q8IYB8 | 356 |
| PTPRCAP | LCK | P06239 | 343 |
| PTPRCAP | CNPY4 | Q8N129 | 327 |
| PTPRCAP | GOT1L1 | Q8NHS2 | 327 |
| PTPRCAP | FRMD5 | Q7Z6J6 | 327 |
| PTPRCAP | HS3ST5 | Q8IZT8 | 327 |
| PTPRCAP | LTB | P78370 | 325 |
| PTPRCAP | ACOT11 | Q8WXI4 | 325 |
IntAct
Human interaction partners of PTPRCAP in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
4 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| DCDC2 | physical association | 0.560 | 3 |
| MYO1C | association | 0.350 | 1 |
| PGRMC1 | association | 0.350 | 1 |
| EEF1A1 | physical association | 0.000 | 1 |
BioGRID (16 interactions; top human partners by supporting records): PTPRC (Affinity Capture-Western; 2 records), C1orf27 (Affinity Capture-MS), CMTM6 (Affinity Capture-MS), DCDC2 (Two-hybrid), EEF1A1 (Two-hybrid), FN1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), LCK (Affinity Capture-Western), MYO1C (Affinity Capture-MS), OSBPL8 (Affinity Capture-MS), PGRMC1 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX5 (Affinity Capture-MS), TPM4 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS)
SIGNOR signaling
1 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| CSNK2A1 | “up-regulates quantity by stabilization” | PTPRCAP | phosphorylation |
Protein complexes (CORUM) (1)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
1 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| ★ CD4 receptor complex | 9 | PTPRCAP, TFRC, TUBA1C, TUBB, VIM, CD4, LCK, MYH9, PTPRC |
Disease & clinical
Genetic variants
Variant evidence for PTPRCAP: 1 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 20 predictions of 116):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 11:67436351–67436352 | acceptor_loss | 0.8800 | 6 |
| 11:67436353 | acceptor_loss | 0.8700 | |
| 11:67437615–67437616 | donor_loss | 0.8600 | 6 |
| 11:67436362 | acceptor_loss | 0.7600 | |
| 11:67437614 | donor_loss | 0.7300 | |
| 11:67437614 | donor_loss | 0.6400 | |
| 11:67437066 | donor_gain | 0.6300 | |
| 11:67436350 | acceptor_gain | 0.6200 | |
| 11:67437384 | donor_gain | 0.6000 | |
| 11:67436356 | acceptor_gain | 0.5600 |
AlphaMissense
248 missense substitutions predicted likely pathogenic (of 1,293 scored), across 77 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 |
|---|---|---|---|
| F183 | 8 | 0.940 | 0.991 |
| H181 | 8 | 0.712 | 0.850 |
| W189 | 7 | 0.936 | 0.990 |
| W54 | 7 | 0.886 | 0.980 |
| H66 | 7 | 0.799 | 0.898 |
| S186 | 6 | 0.887 | 0.978 |
| G185 | 6 | 0.851 | 0.943 |
| P67 | 6 | 0.828 | 0.934 |
| D191 | 6 | 0.770 | 0.869 |
| T204 | 6 | 0.712 | 0.929 |
| Y65 | 5 | 0.892 | 0.929 |
| S85 | 5 | 0.879 | 0.952 |
| V203 | 5 | 0.774 | 0.907 |
| W90 | 5 | 0.764 | 0.853 |
| G63 | 5 | 0.761 | 0.849 |
| A187 | 5 | 0.748 | 0.905 |
| L177 | 5 | 0.747 | 0.844 |
| S58 | 4 | 0.915 | 0.953 |
| S178 | 4 | 0.851 | 0.859 |
| A205 | 4 | 0.832 | 0.923 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Head and Neck Squamous Cell Carcinoma (TCGA) | favorable | 4.9e-06 |
| Skin Cutaneous Melanoma (TCGA) | favorable | 0.000982 |
Disease associations
OMIM: gene MIM:601577 | disease phenotypes:
GWAS associations
2 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010002_193 | Refractive error | 3e-13 |
| GCST009194_1 | Ventral diencephalon volume | 6e-6 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4806 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
Binding affinities (BindingDB)
11 measured of 11 human assays (13 total across all organisms); most potent 11 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| glaucine fumarate | KI | 171 nM |
| 5-[3’-(1-adamantyl)-2-chloro-4’-hydroxy-4-biphenyl]-1H-tetrazole | IC50 | 1200 nM |
| 5-[1-(3’-adamantan-1-yl-2-chloro-4’-hydroxy-biphenyl-4-yl)-meth-(Z)-ylidene]-thiazolidine-2,4-dione | IC50 | 2300 nM |
| (S)-1,2-Dimethoxy-5,6,6a,7-tetrahydro-4H-dibenzo[de,g]quinoline | IC50 | 5300 nM |
| 7-Methyl-6,7,7a,8-tetrahydro-5H-benzo[g][1,3]dioxolo[4’,5’:4,5]benzo[1,2,3-de]quinoline | IC50 | 15000 nM |
| Phenylsulfanylmethyl-phosphonothioic acid | KI | 460000 nM |
| 7-Thiophosphonomethyl-naphthalene-1-carboxylic acid | KI | 1.5e+06 nM |
| 6-Thiophosphono-hexanoic acid | KI | 1.5e+06 nM |
| 6-Phosphono-hexanoic acid | KI | 7e+06 nM |
| methylphosphonic acid | KI | 1.1e+07 nM |
| Methyl-phosphonothioic acid | KI | 1.9e+07 nM |
ChEMBL bioactivities
3 potent at pChembl≥5 of 5 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.92 | IC50 | 1200 | nM | CHEMBL227622 |
| 5.64 | IC50 | 2300 | nM | CHEMBL376571 |
| 5.28 | IC50 | 5300 | nM | NORNUCIFERINE |
PubChem BioAssay actives
2 with measured affinity, of 26 total; 2 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 |
|---|---|---|---|---|
| 2-(1-adamantyl)-4-[2-chloro-4-(2H-tetrazol-5-yl)phenyl]phenol | 288593: Inhibition of CD45 PTP by fluorescence spectrometry | ic50 | 1.2000 | uM |
| (5Z)-5-[[4-[3-(1-adamantyl)-4-hydroxyphenyl]-3-chlorophenyl]methylidene]-1,3-thiazolidine-2,4-dione | 288593: Inhibition of CD45 PTP by fluorescence spectrometry | ic50 | 2.3000 | uM |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Aspirin | decreases expression | 1 |
| Vehicle Emissions | decreases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Choline | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Pantothenic Acid | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Gold Compounds | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL655665 | Binding | Compound was tested for inhibition of CD45 tyrosine phosphatase at a concentration of 10 uM in fluorometric assay using DiFMUP | Design and synthesis of phosphotyrosine mimetics. — *Bioorg Med Chem Lett* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for PTPRCAP 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.