PVR
gene geneOn this page
Also known as CD155HVEDNecl-5NECL5Tage4
Summary
PVR (PVR cell adhesion molecule, HGNC:9705) is a protein-coding gene on chromosome 19q13.31, encoding Poliovirus receptor (P15151). Mediates NK cell adhesion and triggers NK cell effector functions.
The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 5817 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 93 total
- GTEx eGene: eQTL in 42 tissues, sQTL in 15 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.14 (unconstrained)
- MANE Select transcript:
NM_006505 - Notable: 93 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9705 |
| Approved symbol | PVR |
| Name | PVR cell adhesion molecule |
| Location | 19q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD155, HVED, Necl-5, NECL5, Tage4 |
| Ensembl gene | ENSG00000073008 |
| Ensembl biotype | protein_coding |
| OMIM | 173850 |
| Entrez | 5817 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 17 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron
MANE Select: ENST00000425690
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 1, TSL 5: 1
ENST00000425690, ENST00000187830, ENST00000344956, ENST00000403059, ENST00000406449, ENST00000587785, ENST00000706603, ENST00000706604, ENST00000706605, ENST00000706606, ENST00000706607, ENST00000706608, ENST00000937736, ENST00000971444, ENST00000971445, ENST00001032284, ENST00001032285, ENST00001032286, ENST00001032287, ENST00001112012, ENST00001125412, ENST00001125413, ENST00001139674
RefSeq mRNA: 4 — MANE Select: NM_006505
NM_001135768, NM_001135769, NM_001135770, NM_006505
CCDS: CCDS12640, CCDS46105, CCDS46106, CCDS46107
Canonical transcript exons
ENST00000425690 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000711638 | 44647223 | 44647570 |
| ENSE00003500390 | 44657762 | 44657910 |
| ENSE00003508640 | 44649809 | 44650105 |
| ENSE00003603474 | 44653900 | 44654017 |
| ENSE00003633879 | 44661292 | 44661323 |
| ENSE00003671062 | 44658742 | 44658900 |
| ENSE00003996294 | 44643910 | 44644175 |
| ENSE00004795325 | 44661740 | 44666162 |
Expression profiles
Bgee: expression breadth ubiquitous, 213 present calls, max score 94.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.9136 / max 237.0141, expressed in 1740 samples.
Highest expression (Bgee): stromal cell of endometrium, islet of Langerhans, tendon of biceps brachii, heart left ventricle, apex of heart.
Genetic regulation across tissues (GTEx eQTL / sQTL)
PVR is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 42 tissues and its splicing (sQTL) in 15 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 57 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | eqtl | 1.3e-54 | +0.56 | 19:44643329:A:G |
| Skin Not Sun Exposed Suprapubic | eqtl | 1.9e-45 | +0.57 | 19:44644040:G:T |
| Skin Sun Exposed Lower leg | eqtl | 1.7e-39 | +0.49 | 19:44644040:G:T |
| Cells Cultured fibroblasts | eqtl | 3.9e-37 | +0.25 | 19:44644040:G:T |
| Nerve Tibial | eqtl | 2.9e-24 | +0.26 | 19:44617725:A:G |
| Heart Atrial Appendage | eqtl | 3.0e-21 | +0.38 | 19:44643329:A:G |
| Adipose Subcutaneous | eqtl | 2.1e-20 | +0.26 | 19:44644040:G:T |
| Heart Left Ventricle | eqtl | 3.5e-18 | +0.27 | 19:44644040:G:T |
| Artery Tibial | eqtl | 1.0e-14 | -0.44 | 19:44647342:G:A |
| Esophagus Mucosa | eqtl | 1.1e-14 | +0.29 | 19:44644040:G:T |
| Cells Cultured fibroblasts | sqtl | 9.7e-14 | -1.74 | 19:44623160:C:T |
| Esophagus Muscularis | eqtl | 2.4e-13 | +0.17 | 19:44643329:A:G |
| Brain Caudate basal ganglia | eqtl | 5.5e-13 | +0.39 | 19:44644419:T:G |
| Brain Nucleus accumbens basal ganglia | eqtl | 4.2e-12 | +0.36 | 19:44643102:T:C |
| Brain Cerebellum | eqtl | 1.5e-11 | +0.42 | 19:44643329:A:G |
| Brain Frontal Cortex BA9 | eqtl | 2.1e-11 | +0.33 | 19:44643329:A:G |
| Esophagus Gastroesophageal Junction | eqtl | 5.1e-10 | +0.20 | 19:44643329:A:G |
| Lung | sqtl | 1.6e-09 | -0.97 | 19:44645842:A:G |
| Brain Cerebellar Hemisphere | eqtl | 3.5e-09 | +0.32 | 19:44644419:T:G |
| Stomach | eqtl | 2.1e-08 | +0.25 | 19:44643329:A:G |
FANTOM5 promoters
3 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176264 | 26.2772 | 1734 |
| 176266 | 0.9289 | 372 |
| 176265 | 0.7075 | 401 |
Top tissues by expression
showing 100 of 271 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 94.30 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.23 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.18 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.60 | gold quality |
| apex of heart | UBERON:0002098 | 90.60 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.22 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.01 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 89.60 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.46 | gold quality |
| upper lobe of lung | UBERON:0008948 | 89.09 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.06 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.98 | gold quality |
| sural nerve | UBERON:0015488 | 88.85 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.80 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.74 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.64 | gold quality |
| heart | UBERON:0000948 | 88.43 | gold quality |
| adrenal gland | UBERON:0002369 | 88.39 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.35 | gold quality |
| pituitary gland | UBERON:0000007 | 88.22 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.83 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.74 | gold quality |
| liver | UBERON:0002107 | 87.40 | gold quality |
| ascending aorta | UBERON:0001496 | 87.38 | gold quality |
| popliteal artery | UBERON:0002250 | 87.33 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.31 | gold quality |
| tibial artery | UBERON:0007610 | 87.30 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.28 | gold quality |
| aorta | UBERON:0000947 | 87.26 | gold quality |
| right coronary artery | UBERON:0001625 | 87.23 | gold quality |
| pancreas | UBERON:0001264 | 87.07 | gold quality |
| left coronary artery | UBERON:0001626 | 87.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.06 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.48 | gold quality |
| coronary artery | UBERON:0001621 | 86.40 | gold quality |
| body of stomach | UBERON:0001161 | 86.14 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.14 | gold quality |
| lower esophagus | UBERON:0013473 | 86.10 | gold quality |
| nerve | UBERON:0001021 | 86.09 | gold quality |
| tibial nerve | UBERON:0001323 | 86.09 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.89 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.80 | gold quality |
| body of pancreas | UBERON:0001150 | 85.70 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.60 | gold quality |
| muscle of leg | UBERON:0001383 | 85.23 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 84.94 | gold quality |
| omental fat pad | UBERON:0010414 | 84.79 | gold quality |
| peritoneum | UBERON:0002358 | 84.76 | gold quality |
| right lung | UBERON:0002167 | 84.65 | gold quality |
| rectum | UBERON:0001052 | 84.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.59 | gold quality |
| left uterine tube | UBERON:0001303 | 84.48 | gold quality |
| left ovary | UBERON:0002119 | 84.36 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 84.35 | gold quality |
| stomach | UBERON:0000945 | 84.29 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 84.21 | gold quality |
| transverse colon | UBERON:0001157 | 84.03 | gold quality |
| cortical plate | UBERON:0005343 | 83.86 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 83.79 | gold quality |
| body of uterus | UBERON:0009853 | 83.58 | gold quality |
| thyroid gland | UBERON:0002046 | 83.52 | gold quality |
| right ovary | UBERON:0002118 | 83.27 | gold quality |
| esophagus | UBERON:0001043 | 83.21 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 83.16 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.97 | gold quality |
| muscle organ | UBERON:0001630 | 82.82 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 82.82 | gold quality |
| lung | UBERON:0002048 | 82.73 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.69 | gold quality |
| mucosa of stomach | UBERON:0001199 | 82.61 | gold quality |
| colon | UBERON:0001155 | 82.60 | gold quality |
| olfactory bulb | UBERON:0002264 | 82.53 | gold quality |
| myometrium | UBERON:0001296 | 82.52 | gold quality |
| ovary | UBERON:0000992 | 82.51 | gold quality |
| sigmoid colon | UBERON:0001159 | 82.42 | gold quality |
| large intestine | UBERON:0000059 | 82.33 | gold quality |
| prostate gland | UBERON:0002367 | 82.27 | gold quality |
| hypothalamus | UBERON:0001898 | 82.24 | gold quality |
| minor salivary gland | UBERON:0001830 | 82.07 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 81.91 | gold quality |
| intestine | UBERON:0000160 | 81.88 | gold quality |
| lower lobe of lung | UBERON:0008949 | 81.72 | gold quality |
| cortex of kidney | UBERON:0001225 | 81.69 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.63 | gold quality |
| gall bladder | UBERON:0002110 | 81.50 | gold quality |
| duodenum | UBERON:0002114 | 81.48 | gold quality |
| ectocervix | UBERON:0012249 | 81.46 | gold quality |
| cingulate cortex | UBERON:0003027 | 81.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 81.23 | gold quality |
| colonic mucosa | UBERON:0000317 | 81.19 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.13 | gold quality |
| right uterine tube | UBERON:0001302 | 81.11 | gold quality |
| esophagus mucosa | UBERON:0002469 | 81.02 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 80.99 | gold quality |
| placenta | UBERON:0001987 | 80.93 | gold quality |
| mouth mucosa | UBERON:0003729 | 80.91 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 80.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 80.86 | gold quality |
| heart right ventricle | UBERON:0002080 | 80.74 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 80.74 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.88 |
| E-MTAB-5061 | no | 3.37 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Locus coeruleus | tissue | 28.9 | |
| Choroid plexus | tissue | 25.4 | |
| Postcentral gyrus | tissue | 24.5 | |
| Hippocampus | tissue | 20.0 | not detected |
| Nucleus accumbens | tissue | 17.9 | |
| Pituitary gland | tissue | 15.1 | |
| Heart muscle | tissue | 12.3 | high |
| Liver | tissue | 11.7 | low |
| Hippocampal formation | tissue | 10.9 | |
| Pancreas | tissue | 10.2 | medium |
| Skeletal muscle | tissue | 9.9 | not detected |
| Cerebral cortex | tissue | 9.8 | medium |
| Olfactory bulb | tissue | 9.8 | |
| Insular cortex | tissue | 9.8 | |
| Retrosplenial cortex | tissue | 9.7 | |
| Retrosplenial and cingulate cortex | tissue | 9.6 | |
| Amygdala | tissue | 9.4 | |
| Occipital cortex | tissue | 9.2 | |
| Duodenum | tissue | 9.1 | low |
| Temporal cortex | tissue | 9.1 | |
| Placenta | tissue | 9.0 | high |
| Ventral forebrain | tissue | 8.9 | |
| Somatosensory cortex | tissue | 8.9 | |
| Cerebellum | tissue | 8.7 | low |
| Entorhinal cortex | tissue | 8.7 | |
| Adrenal gland | tissue | 8.6 | medium |
| Basal ganglia | tissue | 8.5 | medium |
| Motor cortex | tissue | 8.4 | |
| Small intestine | tissue | 8.4 | low |
| Prefrontal cortex | tissue | 8.3 | |
| Lung | tissue | 8.3 | low |
| Corpus callosum | tissue | 8.3 | |
| Smooth muscle | tissue | 8.0 | not detected |
| Septum | tissue | 7.9 | |
| Hypothalamus | tissue | 7.8 | |
| Putamen | tissue | 7.5 | |
| Periaqueductal gray | tissue | 7.4 | |
| Thalamus | tissue | 7.3 | |
| Parathyroid gland | tissue | 7.2 | medium |
| Pons | tissue | 7.1 | |
| Vagina | tissue | 7.1 | not detected |
| Substantia nigra | tissue | 7.0 | |
| Stomach 1 | tissue | 6.9 | medium |
| Colon | tissue | 6.8 | medium |
| Midbrain | tissue | 6.7 | |
| Medulla oblongata | tissue | 6.6 | |
| Superior colliculi | tissue | 6.5 | |
| Rectum | tissue | 6.2 | medium |
| Spinal cord | tissue | 5.9 | |
| Adipose tissue | tissue | 5.6 | not detected |
| Appendix | tissue | 5.5 | medium |
| Urinary bladder | tissue | 5.2 | not detected |
| Prostate | tissue | 5.2 | medium |
| Ovary | tissue | 4.8 | low |
| Gallbladder | tissue | 4.7 | medium |
| Salivary gland | tissue | 4.5 | not detected |
| Thyroid gland | tissue | 4.4 | medium |
| Bone marrow | tissue | 4.3 | not detected |
| Seminal vesicle | tissue | 4.1 | medium |
| Esophagus | tissue | 4.1 | low |
Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Arcuate nucleus (35.4), Ventromedial nucleus (32.8), Lateral hypothalamic area (29.1), Median raphe nucleus (28.7), Nucleus ambiguus (27.0).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, ATF2, ATM, DBP, E4F1, MYOD1, NFIL3, NRF1, SHH, SSRP1, TBP, TCF3, TFAP2A, TP53
miRNA regulators (miRDB)
Targeting PVR by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 120 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
Functional genomics
gnomAD constraint: pLI 5.36e-11, LOEUF 1.14, 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 ENST00000425690 — one region, missense o/e 0.87.
Literature-anchored findings (GeneRIF, showing 40)
- We propose that the cytoplasmic domain may target CD155-containing endocytic vesicles to the microtubular network (PMID:11751937)
- activation of expression of sonic hedgehog protein (PMID:11983699)
- Data show that both PVR and Nectin-2 represent specific ligands for the DNAM-1 triggering receptor. (PMID:12913096)
- CD155 may have an important role in cellular function (PMID:12943679)
- These data indicate that Tage4 represents the functional orthologue of CD155 in mouse. (PMID:14652024)
- that DNAM-1 regulates monocyte extravasation via its interaction with CD226 expressed at endothelial junctions on normal cells. (PMID:15136589)
- These results suggest that CD155alpha plays a role in the regulation of cell adhesion and cell motility. (PMID:15194502)
- cytoplasmic domain of PVR directly interacts with Tctex-1 and plays an important role in retrograde transport of poliovirus-containing vesicles along microtubules in vivo (PMID:15194795)
- Upregulation of the molecular target CD155 renders explant cultures of high-grade malignant gliomas highly susceptible to a prototype oncolytic poliovirus recombinant. (PMID:15279713)
- Analysis of the ligands for triggering NK receptors revealed the consistent expression of cd155 and cd112 in myeloid leukemias, and less frequent expression in lymphoblastic leukemias (PMID:15536144)
- Evasion of NK cell killing was mediated by human cytomegalovirus UL141 blocking surface expression of CD155 (PMID:15640804)
- Necl-5 has a critical role in integrin alphavbeta3 clustering and focal complex formation (PMID:17446174)
- Results describe the establishment of a poliovirus oral infection system in human poliovirus receptor-expressing transgenic mice that are deficient in alpha/beta interferon receptor. (PMID:17507470)
- no statistically significant association between this marker allele and non-syndromic clefting (PMID:17534374)
- CD155, at least in part, enhances the proliferation of ras-mutated cells (PMID:17893876)
- crystal structure of C155 D1D2 has been determined to 3.5-A resolution and fitted into approximately 8.5-A resolution cryoelectron microscopy reconstructions of the virus-receptor complexes for the 3 PV serotypes (PMID:19011098)
- CD96-driven adhesion to CD155 may be crucial in developmental processes (PMID:19056733)
- The Ala67Thr mutation in the poliovirus receptor is a possible risk factor for the development of vaccine-associated or paralytic poliomyelitis associated with wild-type virus. (PMID:19319949)
- evidence provided for the contribution of DNAM-1/CD155 interactions to the reduction of DNAM-1 expression, suggesting that chronic receptor-ligand interactions in the tumor environment may induce loss of DNAM-1 on tumor-associated NK cells. (PMID:19801517)
- TIGIT is expressed by all NK cells, it binds PVR and PVRL2 but not PVRL3, and it inhibits NK cytotoxicity (PMID:19815499)
- Necl-5 plays a role in mediating tumor cell invasion and that the overexpression of Necl-5 in cancer cells has clinical significance for prognostic evaluation of patients with primary pulmonary adenocarcinoma. (PMID:20331633)
- CD155 is an IFNgamma-inducible immune regulatory protein on the surface of human endothelial cells that attenuates the acquisition of effector functions in CD8 T cells. (PMID:21330602)
- Data show that a high expression of CD112 and CD155 (DNAM-1 ligands) on leukemic blasts. (PMID:21383766)
- The host TICAM-1 pathway, particularly in macrophages, serves as a source of type I interferon induction that protects poliovirus (PV) receptor-bearing transgenic mice from PV infection and paralytic death. (PMID:21998457)
- Expression of PVR in B-ALL cells is modulated by epigenetic mechanisms. (PMID:22169283)
- the PVR downmodulation by Nef and Vpu is a strategy evolved by HIV-1 to prevent NK cell-mediated lysis of infected cells. (PMID:22301152)
- This investigation has enhanced understanding of cell invasion and confirmed CD44 to play a more significant role in this biological process than CD155. (PMID:22363471)
- we demonstrated the expression of both CD155 mRNA and protein in bone and soft tissue sarcoma cell lines (PMID:22692919)
- The concordant computational and experimental data of the present study indicate that the extent of NECL-5 expression correlates with melanoma progression. (PMID:22929570)
- findings suggest Necl-5 expression in lung cancer cells is crucial for their invasiveness in the cancer-stromal interaction (PMID:23276719)
- PVR resides in the recently identified lateral border recycling compartment, similar to PECAM and CD99. (PMID:23333754)
- The CD226/CD155 interaction regulates the proinflammatory (Th1/Th17)/anti-inflammatory (Th2) balance in humans. (PMID:23980210)
- Vpr upregulates PVR during Hiv-1 infection by activating ATR kinase that triggers the DNA damage rsponse pathway and G2 arrest. (PMID:24045107)
- UL141 can inhibit cell-surface expression of both natural killer (NK) cell-activating ligand CD155 as well as TRAIL death receptors (TRAIL-R1 and TRAIL-R2). (PMID:24598754)
- TIGIT/PVR ligation signaling mediates suppression of IFN-gamma production via the NF-kappaB pathway. (PMID:24817116)
- In granulosa cells, there are significant changes in expression during follicular maturation. (PMID:24828608)
- Ala residues 10, 14 and 18 in the TM domain of Vpu are required for CD155 downregulation. (PMID:25113908)
- UPR decreases CD226 ligand CD155 expression and sensitivity to NK cell-mediated cytotoxicity in hepatoma cells. (PMID:25209846)
- Our findings suggest that loss of CD155 expression may play an important role in the immune escape of HCC cells and thus CD155 may serve as a prognostic marker as well as a potential therapeutic target for HCC. (PMID:25320021)
- The present study provides evidence that regulation of the PVR/CD155 DNAM-1 ligand expression by nitric oxide may represent an additional immune-mediated mechanism and supports the anti-myeloma activity of nitric oxide donors. (PMID:25609078)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:113337 | ENSDARG00000041998 |
| danio_rerio | si:ch211-222f23.6 | ENSDARG00000042880 |
| danio_rerio | si:ch73-22o12.1 | ENSDARG00000062831 |
| danio_rerio | pvrl2l | ENSDARG00000063390 |
| danio_rerio | sc:d189 | ENSDARG00000079191 |
| danio_rerio | si:ch211-214p13.3 | ENSDARG00000087403 |
| danio_rerio | si:ch211-141e20.2 | ENSDARG00000093349 |
| danio_rerio | sc:d189 | ENSDARG00000102858 |
| mus_musculus | Pvr | ENSMUSG00000040511 |
| rattus_norvegicus | Pvr | ENSRNOG00000019202 |
| drosophila_melanogaster | Fas3 | FBGN0000636 |
Paralogs (14): CD200 (ENSG00000091972), CADM4 (ENSG00000105767), CRTAM (ENSG00000109943), NECTIN1 (ENSG00000110400), NECTIN2 (ENSG00000130202), NECTIN4 (ENSG00000143217), CD226 (ENSG00000150637), CADM3 (ENSG00000162706), SMAGP (ENSG00000170545), CADM2 (ENSG00000175161), NECTIN3 (ENSG00000177707), TIGIT (ENSG00000181847), CADM1 (ENSG00000182985), NCR3 (ENSG00000204475)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:107741) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 10 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased IgG level | 1 |
| decreased IgA level | 1 |
| increased circulating insulin level | 1 |
| decreased incidence of tumors by chemical induction | 1 |
| abnormal response to infection | 1 |
| abnormal incisor morphology | 1 |
| decreased IgG1 level | 1 |
| decreased IgG2a level | 1 |
| decreased IgG2b level | 1 |
| decreased physiological sensitivity to xenobiotic | 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 |
|---|---|---|---|
| Sus scrofa | Q9GL76 | 92.8% | Diamond |
| Chlorocebus aethiops | P32506 | 89.9% | Diamond |
| Xenopus tropicalis | Q5FWR8 | 50.3% | 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 |
|---|---|---|
| IGSF23 | protein-coding | 147710 |
| CEACAM19 | protein-coding | 56971 |
| MIR8085 | ncRNA | 102465879 |
| CEACAM16 | protein-coding | 388551 |
| BCL3 | protein-coding | 602 |
| MIR4531 | ncRNA | 100616355 |
| CEACAM16-AS1 | ncRNA | 107985305 |
| CEACAM20 | protein-coding | 125931 |
| ZNF180 | protein-coding | 7733 |
Protein
Protein identifiers
Poliovirus receptor — P15151 (reviewed: P15151)
Alternative names: Nectin-like protein 5
All UniProt accessions (9): A0A0A0MSA9, A0A0C4DG49, P15151, A0A9L9PX39, A0A9L9PXB8, A0A9L9PXN8, A0A9L9PY64, F8W7D4, K7EMC6
UniProt curated annotations — full annotation on UniProt →
Function. Mediates NK cell adhesion and triggers NK cell effector functions. Binds two different NK cell receptors: CD96 and CD226. These interactions accumulates at the cell-cell contact site, leading to the formation of a mature immunological synapse between NK cell and target cell. This may trigger adhesion and secretion of lytic granules and IFN-gamma and activate cytotoxicity of activated NK cells. May also promote NK cell-target cell modular exchange, and PVR transfer to the NK cell. This transfer is more important in some tumor cells expressing a lot of PVR, and may trigger fratricide NK cell activation, providing tumors with a mechanism of immunoevasion. Plays a role in mediating tumor cell invasion and migration. (Microbial infection) Acts as a receptor for poliovirus. May play a role in axonal transport of poliovirus, by targeting virion-PVR-containing endocytic vesicles to the microtubular network through interaction with DYNLT1. This interaction would drive the virus-containing vesicle to the axonal retrograde transport. (Microbial infection) Acts as a receptor for Pseudorabies virus. (Microbial infection) Is prevented to reach cell surface upon infection by Human cytomegalovirus /HHV-5, presumably to escape immune recognition of infected cell by NK cells.
Subunit / interactions. Can form trans-heterodimers with NECTIN3. The extracellular domain interacts with VTN, CD226 and CD96. The cytoplasmic domain interacts with DYNLT1. Binds with high affinity to TIGIT. (Microbial infection) Interacts with poliovirus capsid proteins. (Microbial infection) Interacts with human cytomegalovirus /HHV-5 UL141 protein. (Microbial infection) Interacts with pseudorabies virus gD protein.
Subcellular location. Cell membrane Cell membrane Secreted Secreted.
Post-translational modifications. N-glycosylated. N-glycan at Asn-120: Hex5HexNAc4. Phosphorylated by Src kinases on tyrosine residues in the ITIM motif upon ligation. Interaction with TIGIT is required for Phosphorylation.
Domain organisation. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
Induction. Transcriptionally regulated by SHH.
Miscellaneous. The V-type domain is necessary and sufficient for virus binding and uptake.
Similarity. Belongs to the nectin family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P15151-1 | Alpha | yes |
| P15151-2 | Beta | |
| P15151-3 | Gamma | |
| P15151-4 | Delta |
RefSeq proteins (4): NP_001129240, NP_001129241, NP_001129242, NP_006496* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013162 | CD80_C2-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR052659 | Nectin/PVR | Family |
Pfam: PF07686, PF08205
UniProt features (63 total): strand 27, glycosylation site 10, splice variant 5, disulfide bond 3, sequence variant 3, domain 3, topological domain 2, turn 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, mutagenesis site 1, helix 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
13 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 6ISC | complex structure of mCD226-ecto and hCD155-D1 | X-RAY DIFFRACTION | 2.2 |
| 6O3O | Structure of human DNAM-1 (CD226) bound to nectin-like protein-5 (necl-5) | X-RAY DIFFRACTION | 2.8 |
| 6ARQ | Crystal structure of CD96 (D1) bound to CD155/necl-5 (D1-3) | X-RAY DIFFRACTION | 2.88 |
| 3UDW | Crystal structure of the immunoreceptor TIGIT in complex with Poliovirus receptor … | X-RAY DIFFRACTION | 2.9 |
| 3URO | Poliovirus receptor CD155 D1D2 | X-RAY DIFFRACTION | 3.5 |
| 4FQP | Crystal structure of human Nectin-like 5 full ectodomain (D1-D3) | X-RAY DIFFRACTION | 3.6 |
| 3J8F | Cryo-EM reconstruction of poliovirus-receptor complex | ELECTRON MICROSCOPY | 4 |
| 3EPC | CryoEM structure of poliovirus receptor bound to poliovirus type 1 | ELECTRON MICROSCOPY | 8 |
| 3EPD | CryoEM structure of poliovirus receptor bound to poliovirus type 3 | ELECTRON MICROSCOPY | 9 |
| 3EPF | CryoEM structure of poliovirus receptor bound to poliovirus type 2 | ELECTRON MICROSCOPY | 9 |
| 3J9F | Poliovirus complexed with soluble, deglycosylated poliovirus receptor (Pvr) at 4 degrees C | ELECTRON MICROSCOPY | 9 |
| 1NN8 | CryoEM structure of poliovirus receptor bound to poliovirus | ELECTRON MICROSCOPY | 15 |
| 1DGI | Cryo-EM structure of human poliovirus(serotype 1)complexed with three domain CD155 | ELECTRON MICROSCOPY | 22 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P15151-F1 | 85.08 | 0.67 |
Human Protein Atlas
Protein class: CD markers, Predicted membrane proteins, Predicted secreted proteins, Predicted intracellular proteins, Plasma proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm; plasma membrane; vesicles
Antibody reliability (HPA): IH approved · IF supported
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 (1)
| Type | Positions |
|---|---|
| Phosphotyrosine | 398 |
Disulfide bonds (3)
| Type | Positions |
|---|---|
| Disulfide bond | 49–123, 166–221, 266–312 |
Glycosylation sites (10)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 105, 188, 218, 237, 278, 307, 313, 360, 352 |
| N-linked (glcnac…) (complex) asparagine | 120 |
Mutagenesis-validated functional residues (1)
| Position | Phenotype |
|---|---|
| 369–372 | partial loss of dynlt1 binding. |
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 8; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
8 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | curated |
| R-HSA-420597 | Nectin/Necl trans heterodimerization | curated |
| R-HSA-1280218 | Adaptive Immune System | — |
| R-HSA-418990 | Adherens junctions interactions | — |
| R-HSA-446728 | Cell junction organization | — |
| R-HSA-1500931 | Cell-Cell communication | — |
| R-HSA-421270 | Cell-cell junction organization | — |
| R-HSA-168256 | Immune System | — |
MSigDB gene sets: 227 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_MSH3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, MORF_BRCA1, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOCC_CELL_SURFACE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY
GO Biological Process (11): positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860), homophilic cell-cell adhesion (GO:0007156), heterophilic cell-cell adhesion (GO:0007157), natural killer cell mediated cytotoxicity (GO:0042267), susceptibility to natural killer cell mediated cytotoxicity (GO:0042271), negative regulation of natural killer cell mediated cytotoxicity (GO:0045953), positive regulation of natural killer cell mediated cytotoxicity (GO:0045954), susceptibility to T cell mediated cytotoxicity (GO:0060370), cell adhesion (GO:0007155), signal transduction (GO:0007165), symbiont entry into host cell (GO:0046718)
GO Molecular Function (6): virus receptor activity (GO:0001618), signaling receptor activity (GO:0038023), receptor ligand activity (GO:0048018), cell adhesion molecule binding (GO:0050839), cell adhesion mediator activity (GO:0098631), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), plasma membrane (GO:0005886), adherens junction (GO:0005912), focal adhesion (GO:0005925), cell surface (GO:0009986), membrane (GO:0016020), extracellular region (GO:0005576)
Reactome top-level categories
6 top-level categories:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Adherens junctions interactions | 1 |
| Immune System | 1 |
| Cell-cell junction organization | 1 |
| Cell junction organization | 1 |
| Cell-Cell communication | 1 |
GO top-level categories
37 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| positive regulation of natural killer cell mediated cytotoxicity | 2 |
| cell-cell adhesion | 2 |
| natural killer cell mediated cytotoxicity | 2 |
| regulation of natural killer cell mediated cytotoxicity | 2 |
| cellular process | 2 |
| natural killer cell mediated cytotoxicity directed against tumor cell target | 1 |
| positive regulation of natural killer cell mediated immune response to tumor cell | 1 |
| regulation of natural killer cell mediated cytotoxicity directed against tumor cell target | 1 |
| leukocyte mediated cytotoxicity | 1 |
| natural killer cell mediated immunity | 1 |
| negative regulation of leukocyte mediated cytotoxicity | 1 |
| negative regulation of natural killer cell mediated immunity | 1 |
| positive regulation of leukocyte mediated cytotoxicity | 1 |
| positive regulation of natural killer cell mediated immunity | 1 |
| positive regulation of T cell mediated cytotoxicity | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| viral life cycle | 1 |
| symbiont entry into host | 1 |
| symbiont entry into host cell | 1 |
| exogenous protein binding | 1 |
| molecular transducer activity | 1 |
| signaling receptor binding | 1 |
| signal transduction | 1 |
| signaling receptor activator activity | 1 |
| protein binding | 1 |
| cell adhesion | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| cell-substrate junction | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 12 of 25 annotations. The rest are phylogenetic / computational / electronic (IEA).
12 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| natural killer cell mediated cytotoxicity | BP | direct assay |
| negative regulation of natural killer cell mediated cytotoxicity | BP | direct assay |
| positive regulation of natural killer cell mediated cytotoxicity | BP | mutant phenotype |
| positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target | BP | mutant phenotype |
| susceptibility to T cell mediated cytotoxicity | BP | direct assay |
| susceptibility to natural killer cell mediated cytotoxicity | BP | mutant phenotype |
| cell surface | CC | direct assay |
| focal adhesion | CC | high-throughput assay |
| membrane | CC | direct assay |
| plasma membrane | CC | direct assay |
| cell adhesion molecule binding | MF | physical interaction |
| receptor ligand activity | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,456 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PVR | CD226 | Q15762 | 958 |
| PVR | CD96 | P40200 | 941 |
| PVR | NCR3 | O14931 | 859 |
| PVR | TIGIT | Q495A1 | 857 |
| PVR | NCR1 | O76036 | 817 |
| PVR | AFDN | P55196 | 720 |
| PVR | KLRK1 | P26718 | 716 |
| PVR | ULBP1 | Q9BZM6 | 678 |
| PVR | CD274 | Q9NZQ7 | 671 |
| PVR | PVRIG | Q6DKI7 | 663 |
| PVR | ULBP2 | Q9BZM5 | 663 |
| PVR | HAVCR2 | Q8TDQ0 | 655 |
| PVR | LAG3 | P18627 | 650 |
| PVR | CD8A | P01732 | 648 |
| PVR | MICB | P79525 | 646 |
IntAct
Human interaction partners of PVR in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
showing 30 of 71 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| CD226 | direct interaction | 0.860 | 6 |
| TIGIT | direct interaction | 0.790 | 5 |
| SLC30A2 | physical association | 0.780 | 11 |
| KIR2DL5A | physical association | 0.750 | 7 |
| KRTAP10-8 | physical association | 0.720 | 6 |
| CD96 | association | 0.700 | 3 |
| NOTCH2NLA | physical association | 0.670 | 4 |
| SFTPC | physical association | 0.670 | 3 |
| NECTIN3 | physical association | 0.610 | 3 |
| ADIPOQ | physical association | 0.560 | 3 |
| ANKRD46 | physical association | 0.560 | 3 |
| AQP10 | physical association | 0.560 | 3 |
| BRICD5 | physical association | 0.560 | 3 |
| CD47 | physical association | 0.560 | 3 |
| CLDN19 | physical association | 0.560 | 3 |
| CTXN3 | physical association | 0.560 | 3 |
| CYB561A3 | physical association | 0.560 | 3 |
| CYSRT1 | physical association | 0.560 | 3 |
| EBP | physical association | 0.560 | 3 |
| EDDM3B | physical association | 0.560 | 3 |
| GPRC5D | physical association | 0.560 | 3 |
| HHATL | physical association | 0.560 | 3 |
| HOXA1 | physical association | 0.560 | 3 |
| INSIG2 | physical association | 0.560 | 3 |
| KRTAP1-1 | physical association | 0.560 | 3 |
| KRTAP1-3 | physical association | 0.560 | 3 |
| KRTAP10-7 | physical association | 0.560 | 3 |
| KRTAP10-9 | physical association | 0.560 | 3 |
| KRTAP3-1 | physical association | 0.560 | 3 |
| KRTAP3-3 | physical association | 0.560 | 3 |
BioGRID (214 interactions; top human partners by supporting records): RYK (Affinity Capture-MS; 3 records), ALG11 (Affinity Capture-MS; 2 records), ALG5 (Affinity Capture-MS; 2 records), ARV1 (Affinity Capture-MS; 2 records), ATR (Affinity Capture-MS; 2 records), C4A (Affinity Capture-MS; 2 records), CD96 (Affinity Capture-MS; 2 records), CDON (Affinity Capture-MS; 2 records), CISD2 (Affinity Capture-MS; 2 records), DYNLT1 (Two-hybrid; 2 records), EFNB1 (Affinity Capture-MS; 2 records), FAM134A (Affinity Capture-MS; 2 records), FAM20B (Affinity Capture-MS; 2 records), GNPAT (Affinity Capture-MS; 2 records), GPD2 (Affinity Capture-MS; 2 records)
SIGNOR signaling
4 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| ATM | “up-regulates quantity by expression” | PVR | “transcriptional regulation” |
| PVR | “up-regulates activity” | CD226 | binding |
| PVR | “up-regulates activity” | TIGIT | binding |
| MARCHF9 | “down-regulates quantity by destabilization” | PVR | ubiquitination |
Ligand–receptor pairs (CellPhoneDB) (5)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
5 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| TIGIT | ligand | Signaling by Poliovirus receptor |
| KIR2DL5A | ligand | |
| NECTIN3 | receptor | Signaling by Nectin |
| CD226 | ligand | Signaling by Poliovirus receptor |
| CD96 | ligand | Signaling by Poliovirus receptor |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Keratinization | 9 | 12.5× | 5e-06 |
Disease & clinical
Genetic variants
Variant evidence for PVR: 93 ClinVar records (0 pathogenic / likely pathogenic); 18 GWAS associations.
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 9 |
| Benign | 6 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 39 predictions of 555):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:44644177 | donor_loss | 1.0000 | |
| 19:44647543 | donor_gain | 1.0000 | |
| 19:44647571–44647572 | donor_loss | 1.0000 | 4 |
| 19:44657911–44657912 | donor_loss | 1.0000 | 5 |
| 19:44644176–44644177 | donor_loss | 0.9900 | 4 |
| 19:44647221–44647222 | acceptor_loss | 0.9900 | 6 |
| 19:44647571 | donor_loss | 0.9900 | |
| 19:44653898–44653899 | acceptor_loss | 0.9900 | 6 |
| 19:44654018–44654019 | donor_loss | 0.9900 | 5 |
| 19:44657760–44657761 | acceptor_loss | 0.9900 | 6 |
AlphaMissense
409 missense substitutions predicted likely pathogenic (of 2,679 scored), across 131 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 |
|---|---|---|---|
| D117 | 8 | 0.941 | 0.984 |
| C312 | 7 | 0.984 | 0.996 |
| C266 | 7 | 0.981 | 0.993 |
| C123 | 7 | 0.975 | 0.991 |
| C166 | 7 | 0.975 | 0.992 |
| C221 | 7 | 0.975 | 0.991 |
| C49 | 7 | 0.969 | 0.988 |
| W279 | 7 | 0.968 | 0.998 |
| F94 | 7 | 0.960 | 0.995 |
| W179 | 7 | 0.954 | 0.998 |
| W66 | 7 | 0.934 | 0.996 |
| F128 | 7 | 0.904 | 0.985 |
| N316 | 7 | 0.878 | 0.986 |
| F78 | 7 | 0.866 | 0.952 |
| S270 | 7 | 0.850 | 0.987 |
| H225 | 7 | 0.847 | 0.940 |
| W255 | 7 | 0.843 | 0.981 |
| P145 | 6 | 0.897 | 0.979 |
| S204 | 6 | 0.859 | 0.963 |
| P272 | 6 | 0.857 | 0.936 |
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 |
|---|---|---|
| Lung Adenocarcinoma (TCGA) | unfavorable | 5.78e-06 |
| Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA) | unfavorable | 0.000101 |
Disease associations
OMIM: gene MIM:173850 | disease phenotypes:
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (1 panels, 0 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
1 panels:
| Panel | Rating |
|---|---|
| COVID-19 research | amber |
GWAS associations
18 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST002422_1 | Alzheimer’s disease | 9e-116 |
| GCST007827_5 | Alzheimer’s disease or HDL levels (pleiotropy) | 7e-74 |
| GCST007827_6 | Alzheimer’s disease or HDL levels (pleiotropy) | 7e-54 |
| GCST007827_8 | Alzheimer’s disease or HDL levels (pleiotropy) | 3e-36 |
| GCST90002395_325 | Mean platelet volume | 5e-18 |
| GCST004599_94 | Mean platelet volume | 1e-17 |
| GCST007320_6 | Alzheimer’s disease or family history of Alzheimer’s disease | 4e-17 |
| GCST90002401_248 | Platelet distribution width | 6e-15 |
| GCST90002395_324 | Mean platelet volume | 9e-15 |
| GCST007827_17 | Alzheimer’s disease or HDL levels (pleiotropy) | 3e-12 |
| GCST005952_8 | Body mass index (age>50) | 9e-12 |
| GCST007827_19 | Alzheimer’s disease or HDL levels (pleiotropy) | 3e-11 |
| GCST005950_15 | Body mass index x sex x age interaction (4df test) | 2e-10 |
| GCST004599_95 | Mean platelet volume | 1e-9 |
| GCST005954_4 | Body mass index x age interaction | 2e-7 |
| GCST001198_72 | Multiple sclerosis | 1e-6 |
| GCST005951_66 | Body mass index | 1e-6 |
| GCST007124_7 | Multiple sclerosis and HDL levels (pleiotropy) | 4e-6 |
EFO canonical traits (from GWAS)
6 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0009268 | family history of Alzheimer’s disease |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Immunoglobulin like domain containing proteins
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects expression, increases expression | 4 |
| bisphenol A | affects expression, increases expression | 3 |
| Cisplatin | affects cotreatment, decreases expression, increases expression | 2 |
| Lipopolysaccharides | affects response to substance, increases expression, affects expression | 2 |
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| dicrotophos | increases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression, increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Gold | affects binding, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | decreases expression | 1 |
Cellosaurus cell lines
12 cell lines: 6 transformed cell line, 4 cancer cell line, 2 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2PN | Abcam A-549 PVR KO | Cancer cell line | Male |
| CVCL_B3FF | Abcam HEK293T PVR KO | Transformed cell line | Female |
| CVCL_D9Q6 | Ubigene HEK293 PVR KO | Transformed cell line | Female |
| CVCL_E1K7 | HyCyte HEK293 KO-hPVR | Transformed cell line | Female |
| CVCL_E5IP | CHO-K1/CD155 | Spontaneously immortalized cell line | Female |
| CVCL_E6RJ | Genomeditech CHO-K1 H_PVR(CD155) | Spontaneously immortalized cell line | Female |
| CVCL_E6WN | Genomeditech Raji H_PVR(CD155) | Cancer cell line | Male |
| CVCL_TH76 | HAP1 PVR (-) 1 | Cancer cell line | Male |
| CVCL_TH77 | HAP1 PVR (-) 2 | Cancer cell line | Male |
| CVCL_U966 | TgSVA | Transformed cell line | Sex unspecified |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.